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List of works by Tim Frayling

35th Annual Meeting of the European Association for the Study of Diabetes

article

35th Annual Meeting of the European Association for the Study of Diabetes : Brussels, Belgium, 28 September-2 October 1999

article

A Common Allele in FGF21 Associated with Sugar Intake Is Associated with Body Shape, Lower Total Body-Fat Percentage, and Higher Blood Pressure

scientific article published in April 2018

A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants

scientific article published on 10 May 2017

A Genome-Wide Scan in Families With Maturity-Onset Diabetes of the Young: Evidence for Further Genetic Heterogeneity

article

A Large-Scale Association Analysis of Common Variation of the HNF1 Gene With Type 2 Diabetes in the U.K. Caucasian Population

article

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

scientific article published on 24 March 2017

A Mendelian Randomization Study Provides Evidence That Adiposity and Dyslipidemia Lead to Lower Urinary Albumin-to-Creatinine Ratio, a Marker of Microvascular Function

scientific article published on 08 January 2020

A central role for GRB10 in regulation of islet function in man.

scientific article published on 3 April 2014

A common allele in FGF21 associated with preference for sugar consumption lowers body fat in the lower body and increases blood pressure

scholarly article published 6 November 2017

A common genetic variant in the 15q24 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) is associated with a reduced ability of women to quit smoking in pregnancy

scientific article published on 09 May 2009

A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity

scientific article

A common variant of HMGA2 is associated with adult and childhood height in the general population

scientific article

A common variant of the interleukin 6 receptor (IL-6r) gene increases IL-6r and IL-6 levels, without other inflammatory effects.

scientific article published on 02 August 2007

A common variant of the p16(INK4a) genetic region is associated with physical function in older people

scientific article

A common variation in deiodinase 1 gene DIO1 is associated with the relative levels of free thyroxine and triiodothyronine

scientific article published on 20 May 2008

A genetic link between type 2 diabetes and prostate cancer

scientific article published on 12 August 2008

A genetic variant in the seed region of miR-4513 shows pleiotropic effects on lipid and glucose homeostasis, blood pressure, and coronary artery disease

scientific article published in December 2014

A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance

scientific article published on 13 May 2012

A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation

scientific article

A genome-wide association search for type 2 diabetes genes in African Americans

scientific article published on 4 January 2012

A genome-wide association study identifies protein quantitative trait loci (pQTLs)

scientific article

A genome-wide association study implicates multiple mechanisms influencing raised urinary albumin-creatinine ratio

scientific article published on 01 December 2019

A genome-wide association study reveals variants in ARL15 that influence adiponectin levels

scientific article

A genomewide scan for loci predisposing to type 2 diabetes in a U.K. population (the Diabetes UK Warren 2 Repository): analysis of 573 pedigrees provides independent replication of a susceptibility locus on chromosome 1q

scientific article

A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease

scientific article published on June 2016

A meta-analysis of the associations between common variation in the PDE8B gene and thyroid hormone parameters, including assessment of longitudinal stability of associations over time and effect of thyroid hormone replacement

scientific article

A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function

scientific article

A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young

scientific article (publication date: July 1997)

A novel common variant in DCST2 is associated with length in early life and height in adulthood

scientific article published on 3 October 2014

A powerful approach to sub-phenotype analysis in population-based genetic association studies

scientific article

A principal component meta-analysis on multiple anthropometric traits identifies novel loci for body shape

scientific article published on 23 November 2016

A putative functional polymorphism in the IGF-I gene: association studies with type 2 diabetes, adult height, glucose tolerance, and fetal growth in U.K. populations

scientific article published in July 2002

A reference panel of 64,976 haplotypes for genotype imputation

scientific article

A study of association between common variation in the growth hormone-chorionic somatomammotropin hormone gene cluster and adult fasting insulin in a UK Caucasian population

scientific article

Across-cohort QC analyses of GWAS summary statistics from complex traits

scientific article

Across-cohort QC analyses of genome-wide association study summary statistics from complex traits

article published in 2015

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

scientific article

Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data

scientific article

Adult height variants affect birth length and growth rate in children

scientific article

Allelic drop-out may occur with a primer binding site polymorphism for the commonly used RFLP assay for the -1131T>C polymorphism of the Apolipoprotein AV gene

scientific article published on 02 May 2006

Allelic heterogeneity and more detailed analyses of known loci explain additional phenotypic variation and reveal complex patterns of association

scientific article

An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans

scientific article published on 31 May 2017

An FTO variant is associated with Type 2 diabetes in South Asian populations after accounting for body mass index and waist circumference

scientific article

An interleukin-18 polymorphism is associated with reduced serum concentrations and better physical functioning in older people

scientific article published on January 2007

Analysis with the exome array identifies multiple new independent variants in lipid loci

scientific article published on 27 July 2016

Another explanation for apparent epistasis

scientific article published in Nature

Ant colony optimisation of decision tree and contingency table models for the discovery of gene-gene interactions

scientific article published on December 2015

Ant colony optimisation to identify genetic variant association with type 2 diabetes

article by Jacqueline Christmas et al published May 2011 in Information Sciences

Are the causes of obesity primarily environmental? No

scientific article published on 11 September 2012

Assessing the Causal Role of Sleep Traits on Glycated Hemoglobin: A Mendelian Randomization Study

scientific article published in 2022

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting

scientific article published on 18 January 2019

Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk

scientific article published on 30 June 2008

Assessing the pathogenicity, penetrance and expressivity of putative disease-causing variants in a population setting

Assessment of the role of common genetic variation in the transient neonatal diabetes mellitus (TNDM) region in type 2 diabetes: a comparative genomic and tagging single nucleotide polymorphism approach

scientific article

Association Analysis of 6,736 U.K. Subjects Provides Replication and ConfirmsTCF7L2as a Type 2 Diabetes Susceptibility Gene With a Substantial Effect on Individual Risk

article

Association Studies of Genetic Variation in the WFS1 Gene and Type 2 Diabetes in U.K. Populations

article

Association Studies of Insulin Receptor Substrate 1 Gene (IRS1) Variants in Type 2 Diabetes Samples Enriched for Family History and Early Age of Onset

article

Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index

scientific article (publication date: November 2010)

Association analysis of 29,956 individuals confirms that a low-frequency variant at CCND2 halves the risk of type 2 diabetes by enhancing insulin secretion

scientific article published on 20 January 2015

Association and haplotype analysis of the insulin-degrading enzyme (IDE) gene, a strong positional and biological candidate for type 2 diabetes susceptibility

scientific article published in May 2003

Association of the calpain-10 gene with type 2 diabetes in Europeans: Results of pooled and meta-analyses

article

Association of vitamin D status with arterial blood pressure and hypertension risk: a mendelian randomisation study

scientific article

Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants

scientific article

Associations Between Glycemic Traits and Colorectal Cancer: A Mendelian Randomization Analysis

scientific article published in 2022

Authors' reply to Toth

scientific article published on 5 April 2016

Beta cell glucose sensitivity is decreased by 39% in non-diabetic individuals carrying multiple diabetes-risk alleles compared with those with no risk alleles.

scientific article

Biological and clinical insights from genetics of insomnia symptoms

article

Biological and clinical insights from genetics of insomnia symptoms

scientific article published on 25 February 2019

Biological interpretation of genome-wide association studies using predicted gene functions

scientific article published on 19 January 2015

Biomarkers for type 2 diabetes and impaired fasting glucose using a nontargeted metabolomics approach

scientific article (publication date: December 2013)

C-reactive protein levels and body mass index: elucidating direction of causation through reciprocal Mendelian randomization

scientific article published on 17 August 2010

C282Y mutation in HFE (haemochromatosis) gene and type 2 diabetes

scientific article published in The Lancet

CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits

scientific article published on 29 September 2017

Causal relationship between obesity and vitamin D status: bi-directional Mendelian randomization analysis of multiple cohorts

scientific article (publication date: 2013)

Chapter 1 Transcription factor genes in type 2 diabetes

article

Chronotype Genetic Variant in PER2 is Associated with Intrinsic Circadian Period in Humans

scientific article published on 29 March 2019

Clear detection of ADIPOQ locus as the major gene for plasma adiponectin: results of genome-wide association analyses including 4659 European individuals

scientific article

Combining genome and mouse knockout expression data to highlight binding sites for the transcription factor HNF1alpha

scientific article

Combining information from common type 2 diabetes risk polymorphisms improves disease prediction

scientific article published in October 2006

Commentary: A new dawn for genetic epidemiology?

scientific article published on 07 July 2009

Commentary: Genetic association studies see light at the end of the tunnel

scientific article published on 05 October 2007

Common Variants of the Hepatocyte Nuclear Factor-4 P2 Promoter Are Associated With Type 2 Diabetes in the U.K. Population

scientific article published on 01 November 2004

Common genetic variation in the gene encoding interleukin-1-receptor antagonist (IL-1RA) is associated with altered circulating IL-1RA levels

article

Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people

scientific article published on 12 May 2009

Common variants in WFS1 confer risk of type 2 diabetes

scientific article published on July 2007

Common variants in the TCF7L2 gene are strongly associated with type 2 diabetes mellitus in the Indian population.

scientific article published on 9 November 2006

Common variants near MC4R are associated with fat mass, weight and risk of obesity

scientific article

Common variants of the novel type 2 diabetes genes CDKAL1 and HHEX/IDE are associated with decreased pancreatic beta-cell function

scientific article

Common variants show predicted polygenic effects on height in the tails of the distribution, except in extremely short individuals

scientific article

Common variation in the DIO2 gene predicts baseline psychological well-being and response to combination thyroxine plus triiodothyronine therapy in hypothyroid patients

scientific article

Common variation in the FTO gene alters diabetes-related metabolic traits to the extent expected given its effect on BMI

scientific article

Common variation in the LMNA gene (encoding lamin A/C) and type 2 diabetes: association analyses in 9,518 subjects

scientific article (publication date: March 2007)

Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study

scientific article published on 29 January 2009

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

scientific article published on 18 March 2012

Conflicting results on variation in the IGFI gene highlight methodological considerations in the design of genetic association studies

article

Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals

scientific article

Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution.

scientific article published on 27 July 2009

Correction: Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

scientific article published on 23 August 2017

Correction: The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits.

scientific article published on 25 April 2013

Corrigendum: Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance

scientific article

Corrigendum: Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scholarly article published in Nature Genetics

Deep resequencing unveils genetic architecture of ADIPOQ and identifies a novel low-frequency variant strongly associated with adiponectin variation

scientific article published on 8 March 2012

Defining the role of common variation in the genomic and biological architecture of adult human height

scientific article

Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome

scientific article published in 2021

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

Discovery and fine mapping of serum protein loci through transethnic meta-analysis

scientific article

Effects of body mass index on relationship status, social contact and socio-economic position: Mendelian randomization and within-sibling study in UK Biobank

scientific article published on 04 December 2019

Effects of body mass index on relationship status, social contact, and socioeconomic position: Mendelian Randomization study in UK Biobank

Effects of the diabetes linked TCF7L2 polymorphism in a representative older population

scientific article

Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms

scientific article

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article published in November 2011

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article published in May 2010

Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 23 January 2018

Estimating sleep parameters using an accelerometer without sleep diary

article

Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

scientific article

Evaluation of Common Variants in the Six Known Maturity-Onset Diabetes of the Young (MODY) Genes for Association With Type 2 Diabetes

article

Evaluation of common type 2 diabetes risk variants in a South Asian population of Sri Lankan descent

scientific article

Evidence From a Large U.K. Family Collection That Genes Influencing Age of Onset of Type 2 Diabetes Map to Chromosome 12p and to the MODY3/NIDDM2 Locus on 12q24

article

Evidence for linkage of stature to chromosome 3p26 in a large U.K. Family data set ascertained for type 2 diabetes

scientific article

Evidence of a causal relationship between body mass index and psoriasis: A mendelian randomization study

scientific article published on 31 January 2019

Evidence of a common causal relationship between body mass index and inflammatory skin disease: a Mendelian Randomization study

scientific article published on 15 February 2018

Evidence that low socioeconomic position accentuates genetic susceptibility to obesity

article published in 2016

Exome sequencing-driven discovery of coding polymorphisms associated with common metabolic phenotypes.

scientific article published on 19 November 2012

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

scientific article published on 06 June 2019

Exome-Derived Adiponectin-Associated Variants Implicate Obesity and Lipid Biology

scientific article published on 01 September 2019

Exome-wide association study of plasma lipids in >300,000 individuals

scientific article published on 30 October 2017

Exploring the developmental overnutrition hypothesis using parental-offspring associations and FTO as an instrumental variable

scientific article

FTO gene variants are strongly associated with type 2 diabetes in South Asian Indians.

scientific article

FTO gene variation and measures of body mass in an African population

scientific article

FTO genotype is associated with phenotypic variability of body mass index

scientific article published on 16 September 2012

Filaggrin gene mutations are associated with asthma and eczema in later life

scientific article published on 29 August 2008

Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps

scientific article published on 08 October 2018

Functional characterisation of ADIPOQ variants using individuals recruited by genotype

scientific article published on 17 March 2016

Functional variation in VEGF is not associated with type 2 diabetes in a United Kingdom Caucasian population

scientific article published on 09 May 2006

GWAS in 446,118 European adults identifies 78 genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates

article

GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI

scientific article published on 04 September 2019

Gene-obesogenic environment interactions in the UK Biobank study

scientific article published on 10 January 2017

Genetic Evidence for Causal Relationships Between Maternal Obesity-Related Traits and Birth Weight

scientific article published on March 2016

Genetic Evidence for a Link Between Favorable Adiposity and Lower Risk of Type 2 Diabetes, Hypertension, and Heart Disease

scientific article published on 26 April 2016

Genetic Studies of Leptin Concentrations Implicate Leptin in the Regulation of Early Adiposity

scientific article published on 11 September 2020

Genetic Variation in the Small Heterodimer Partner Gene and Young-Onset Type 2 Diabetes, Obesity, and Birth Weight in U.K. Subjects

article

Genetic architecture of early childhood growth phenotypes gives insights into their link with later obesity

Genetic association analysis of LARS2 with type 2 diabetes

scientific article (publication date: 2010)

Genetic correlates of social stratification in Great Britain

scientific article published on 21 October 2019

Genetic evidence for a normal-weight "metabolically obese" phenotype linking insulin resistance, hypertension, coronary artery disease, and type 2 diabetes

scientific article

Genetic evidence of assortative mating in humans

article

Genetic evidence that higher central adiposity causes gastro-oesophageal reflux disease: a Mendelian-randomization study

scientific article published on 26 June 2020

Genetic evidence that lower circulating FSH levels lengthen menstrual cycle, increase age at menopause and impact female reproductive health

scientific article

Genetic evidence that lower circulating FSH levels lengthen menstrual cycle, increase age at menopause, and impact reproductive health: a UK Biobank study

article

Genetic evidence that raised sex hormone binding globulin (SHBG) levels reduce the risk of type 2 diabetes

scientific article published on 18 November 2009

Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci

scientific article

Genetic regulation of birth weight and fasting glucose by a common polymorphism in the islet cell promoter of the glucokinase gene

scientific article published in February 2005

Genetic studies of accelerometer-based sleep measures in 85,670 individuals yield new insights into human sleep behaviour

article published in 2018

Genetic studies of accelerometer-based sleep measures yield new insights into human sleep behaviour

scientific article published on 05 April 2019

Genetic studies of body mass index yield new insights for obesity biology

scientific article

Genetic studies of diabetes following the advent of the genome-wide association study: where do we go from here?

scientific article published on 01 November 2007

Genetic variants associated with glycine metabolism and their role in insulin sensitivity and type 2 diabetes

scientific article published on February 2013

Genetic variants in Apolipoprotein AV alter triglyceride concentrations in pregnancy

scientific article

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk

scientific article published on 6 October 2011

Genetic variation and human aging: progress and prospects

scientific article published on March 2007

Genetic variation associated with circulating monocyte count in the eMERGE Network

scientific article published on 12 January 2013

Genetic variation at CHRNA5-CHRNA3-CHRNB4 interacts with smoking status to influence body mass index

scientific article published on 18 May 2011

Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge

scientific journal article

Genetic variation in the 15q25 nicotinic acetylcholine receptor gene cluster (CHRNA5-CHRNA3-CHRNB4) interacts with maternal self-reported smoking status during pregnancy to influence birth weight

scientific article

Genome-Wide Association Analyses in 128,266 Individuals Identifies New Morningness and Sleep Duration Loci.

scientific article

Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci

scientific article published on 14 July 2016

Genome-Wide and Abdominal MRI-Imaging Data Provides Evidence that a Genetically Determined Favourable Adiposity Phenotype is Characterized by Lower Ectopic Liver Fat and Lower Risk of Type 2 Diabetes, Heart Disease and Hypertension

scientific article published on 23 October 2018

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development

scientific article published on 27 December 2017

Genome-wide association analyses in >119,000 individuals identifies thirteen morningness and two sleep duration loci

Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms

scientific article published in Nature Communications

Genome-wide association analyses of chronotype in 697,828 individuals provides new insights into circadian rhythms in humans and links to disease

Genome-wide association analysis of excessive daytime sleepiness identifies 42 loci that suggest phenotypic subgroups

Genome-wide association analysis of self-reported daytime sleepiness identifies 42 loci that suggest biological subtypes

scientific article published on 13 August 2019

Genome-wide association identifies nine common variants associated with fasting proinsulin levels and provides new insights into the pathophysiology of type 2 diabetes

scientific article

Genome-wide association scan allowing for epistasis in type 2 diabetes

scientific article published on 6 December 2010

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

scientific article published in June 2009

Genome-wide association studies provide new insights into type 2 diabetes aetiology

scientific article published on September 2007

Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates

article

Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci

scientific article

Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls

scientific article

Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics

article

Genome-wide association study of offspring birth weight in 86,577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics

scientific article published on 3 January 2018

Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts

scientific article (publication date: 2012)

Genome-wide associations for birth weight and correlations with adult disease

scientific article

Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture

scientific journal article

Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

scientific article

Genome-wide meta-analysis of common variant differences between men and women

scientific article published on 27 July 2012

Genome-wide meta-analysis uncovers novel loci influencing circulating leptin levels

scientific article published on February 2016

Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults

scientific article published on 27 April 2017

Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

scientific article

Genomic inflation factors under polygenic inheritance

scientific article

HUMAN LONGEVITY IS INFLUENCED BY MANY GENETIC VARIANTS: EVIDENCE FROM 75,000 UK BIOBANK PARTICIPANTS

Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank

scientific article

Human aging is characterized by focused changes in gene expression and deregulation of alternative splicing

scientific article

Human longevity is influenced by many genetic variants: evidence from 75,000 UK Biobank participants

scientific article published on 23 March 2016

Hundreds of variants clustered in genomic loci and biological pathways affect human height

scientific article

Hyperglycemia and Adverse Pregnancy Outcome (HAPO) study: common genetic variants in GCK and TCF7L2 are associated with fasting and postchallenge glucose levels in pregnancy and with the new consensus definition of gestational diabetes mellitus from

scientific article

Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene

scientific article published on 23 March 2015

Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene

scientific article published on 4 January 2016

Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease

scientific article

Identifying likely causal connections between gene expression levels using a Mendelian randomization approach

article

Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation

scientific article

In silico searching of human and mouse genome data identifies known and unknown HNF1 binding sites upstream of beta-cell genes

scientific article

Independent test assessment using the extreme value distribution theory

scientific article published on 18 October 2016

Influence of cell distribution and diabetes status on the association between mitochondrial DNA copy number and aging phenotypes in the InCHIANTI study ⬇️

scientific article published on 19 October 2017

Insights on pathogenesis of type 2 diabetes from MODY genetics

scientific article published on April 2007

Integrated genetic and epigenetic analysis identifies haplotype-specific methylation in the FTO type 2 diabetes and obesity susceptibility locus

scientific article

Integrative genomic analysis implicates limited peripheral adipose storage capacity in the pathogenesis of human insulin resistance.

scientific article

Interleukin-18 polymorphism and physical functioning in older people: a replication study and meta-analysis

scientific article

Interrogating type 2 diabetes genome-wide association data using a biological pathway-based approach

scientific article

Intrauterine hyperglycemia is associated with an earlier diagnosis of diabetes in HNF-1alpha gene mutation carriers

scientific article published on 01 December 2002

Investigating causal relations between sleep traits and risk of breast cancer in women: mendelian randomisation study

scientific article published on 26 June 2019

Investigating causal relationships between sleep traits and risk of breast cancer: a Mendelian randomization study

Is disrupted sleep a risk factor for Alzheimer's disease? Evidence from a two-sample Mendelian randomization analysis

scientific article published on 05 November 2020

Lack of support for a role of the insulin gene variable number of tandem repeats minisatellite (INS-VNTR) locus in fetal growth or type 2 diabetes-related intermediate traits in United Kingdom populations.

scientific article

Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates

scientific article published on 17 June 2020

Large-scale association analysis of TNF/LTA gene region polymorphisms in type 2 diabetes

scientific article

Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes

scientific article

Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes

scientific article published in February 2003

Linkage disequilibrium mapping of the replicated type 2 diabetes linkage signal on chromosome 1q

scientific article (publication date: July 2009)

Low frequency variants in the exons only encoding isoform A of HNF1A do not contribute to susceptibility to type 2 diabetes

scientific article published on 12 August 2009

Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility

scientific article

Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits

scientific article published on 14 August 2020

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

scientific article published on 01 May 2019

Mendelian randomisation in type 2 diabetes and coronary artery disease

scholarly article by Tim Frayling & Charli Stoneman published June 2018 in Current Opinion in Genetics & Development

Mendelian randomization studies do not support a role for raised circulating triglyceride levels influencing type 2 diabetes, glucose levels, or insulin resistance

scientific article

Meta-analysis and a large association study confirm a role for calpain-10 variation in type 2 diabetes susceptibility

scientific article published on November 2003

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

scientific article

Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes

scientific article

Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry

article by Sara Pulit et al published 1 January 2019 in Human Molecular Genetics

Meta-analysis of genome-wide association studies for height and body mass index in ~700,000 individuals of European ancestry

scholarly article published 2 March 2018

Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry

article

Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes

article

Mosaic Turner syndrome shows reduced penetrance in an adult population study

scientific article published on 05 September 2018

Mosaic Turner syndrome shows reduced phenotypic penetrance in an adult population study compared to clinically ascertained cases

Multiple loci are associated with white blood cell phenotypes

scientific article

Mutations in hepatocyte nuclear factor 1beta are not a common cause of maturity-onset diabetes of the young in the U.K.

scientific article published in July 1998

Mutations in the Hepatocyte Nuclear Factor-1 Gene Are a Common Cause of Maturity-Onset Diabetes of the Young in the U.K

article

New gene variants alter type 2 diabetes risk predominantly through reduced beta-cell function

scientific article published on July 2008

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

scientific article

New genetic loci link adipose and insulin biology to body fat distribution

scientific article

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

scientific article published on 2 December 2012

No Evidence for Linkage at Candidate Type 2 Diabetes Susceptibility Loci on Chromosomes 12 and 20 in United Kingdom Caucasians

scientific article published on 01 February 2000

No Evidence of Association of ENPP1 Variants With Type 2 Diabetes or Obesity in a Study of 8,089 U.K. Caucasians

scientific article published on 01 November 2006

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index

scientific article

Novel biological insights emerging from genetic studies of type 2 diabetes and related metabolic traits

scientific article published on February 2010

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

scientific article

P128 Identification de nouveaux polymorphismes génétiques associés au risque de diabète de type 2 chez les obèses et non obèses européens

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

article

Paradoxical lower serum triglyceride levels and higher type 2 diabetes mellitus susceptibility in obese individuals with the PNPLA3 148M variant

scientific article

Parent-offspring trios: a resource to facilitate the identification of type 2 diabetes genes.

scientific article published in December 1999

Parental diabetes and birthweight in 236 030 individuals in the UK biobank study

scientific article published on 11 December 2013

People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population

scientific article published on 10 August 2011

Phosphodiesterase 8B Gene Polymorphism Is Associated with Subclinical Hypothyroidism in Pregnancy

article

Physiology Helps GWAS Take a Step Closer to Mechanism

scientific article published on 01 June 2014

Piecing together the FTO jigsaw ⬇️

scientific article published on February 24, 2011

Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes

scientific article

Polymorphisms in LMNA and near a SERPINA gene cluster are associated with cognitive function in older people.

scientific article

Population genetic differentiation of height and body mass index across Europe

scientific article

Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes

scientific article

Population-specific risk of type 2 diabetes conferred by HNF4A P2 promoter variants: a lesson for replication studies

scientific article published on 26 August 2008

Proposed mechanism for a novel insertion/deletion frameshift mutation (I414G415ATCG?CCA) in the hepatocyte nuclear factor 1 alpha (HNF-1?) gene which causes maturity-onset diabetes of the young (MODY)

article

Prosaposin is a regulator of progranulin levels and oligomerization

scientific article published on 30 June 2016

Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 22 December 2017

Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution

article

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 16 March 2018

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article

Publisher Correction: Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity

scientific article published on 01 July 2019

Quantification of the overall contribution of gene-environment interaction for obesity-related traits

scientific article published on 13 March 2020

Quantifying the extent to which index event biases influence large genetic association studies

scientific article published on 30 December 2016

Quantifying the extent to which index event biases influence large genetic association studies

article

Quantitative traits associated with the Type 2 diabetes susceptibility allele in Kir6.2

scientific article published on 18 June 2003

Rare and low-frequency coding variants alter human adult height

scientific article (publication date: February 2017)

Rare variants identified in the HNF-4α β-cell-specific promoter and alternative exon 1 lack biological significance in maturity onset diabetes of the young and young onset Type II diabetes

article by S. Mitchell et al published 19 July 2002 in Diabetologia

Reaching new heights: insights into the genetics of human stature

scientific article published on 22 October 2008

Recent Progress in Identifying Genes Contributing to Type 2 Diabetes and Metabolic Syndrome

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Recent Progress in the Identification of Genes Predisposing to the Metabolic Syndrome

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Recent progress in the use of genetics to understand links between type 2 diabetes and related metabolic traits

scientific article published on 28 March 2013

Red Blood Cell Distribution Width: genetic evidence for aging pathways in 116,666 volunteers

Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers.

scientific article published on 28 September 2017

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

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Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

scientific article published on 9 April 2018

Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes

scientific article (publication date: June 2007)

Response to Prakash et al

scientific article published on 21 December 2018

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

scientific article published on 19 December 2017

Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits

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Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

scientific article

Statins and type 2 diabetes: genetic studies on target

scientific article published in The Lancet

Stratification by smoking status reveals an association of CHRNA5-A3-B4 genotype with body mass index in never smokers

scientific article published on 4 December 2014

Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases

scientific article

Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity

scientific article

Systematic identification of trans eQTLs as putative drivers of known disease associations

scientific article (publication date: October 2013)

Tall stories: the fundamental difficulties of genetic association studies

scientific article published on 01 January 2004

Testing the role of predicted gene knockouts in human anthropometric trait variation

scientific article

The 9p21 myocardial infarction risk allele increases risk of peripheral artery disease in older people

scientific article published on 23 June 2009

The Hunt for Low-Frequency Alleles Predisposing to Type 2 Diabetes and Related Cardiovascular Risk Factors

The fat mass- and obesity-associated locus and dietary intake in children

scientific article

The functional "KL-VS" variant of KLOTHO is not associated with type 2 diabetes in 5028 UK Caucasians

scientific article published on 5 June 2006

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The impact of the angiotensin-converting enzyme insertion/deletion polymorphism on severe hypoglycemia in Type 2 diabetes

scientific article published on 10 August 2006

The longitudinal association of common susceptibility variants for type 2 diabetes and obesity with fasting glucose level and BMI.

scientific article

The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits

scientific article

The role of the HNF4α enhancer in type 2 diabetes

scientific article published on 01 June 2002

The role of transcription factors in maturity-onset diabetes of the young

scientific article

The splice site variant rs11078928 may be associated with a genotype-dependent alteration in expression of GSDMB transcripts

scientific article published on 17 September 2013

The transcription factor 7-like 2 (TCF7L2) gene is associated with Type 2 diabetes in UK community-based cases, but the risk allele frequency is reduced compared with UK cases selected for genetic studies.

scientific article published on 24 August 2007

Triglyceride associated polymorphisms of the APOA5 gene have very different allele frequencies in Pune, India compared to Europeans

scientific article

Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis

scientific article

Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals

scientific article published on 23 April 2007

Type 2 diabetes risk alleles are associated with reduced size at birth

scientific article published on 19 February 2009

Underlying genetic models of inheritance in established type 2 diabetes associations

scientific article published on 14 July 2009

Unraveling the polygenic architecture of complex traits using blood eQTL meta-analysis

scholarly article published 19 October 2018

Using Genetic Variants to Assess the Relationship Between Circulating Lipids and Type 2 Diabetes

scientific article published on 6 May 2015

Using genetics to understand the causal influence of higher BMI on depression

article

Using human genetics to understand the disease impacts of testosterone in men and women

scientific article published on 10 February 2020

Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight

scientific article

Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes respectively

Variants in the FTO and CDKAL1 loci have recessive effects on risk of obesity and type 2 diabetes, respectively

scientific article published on 10 March 2016

Variants in the aromatase gene and on the Y-chromosome are not associated with adult height or insulin resistance in a UK population

scientific article published in August 2003

Variation in the calpain-10 gene affects blood glucose levels in the British population

scientific article published in January 2002

Variation within the type 2 diabetes susceptibility gene calpain-10 and polycystic ovary syndrome

scientific article

Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes

scientific article

Young-onset type 2 diabetes families are the major contributors to genetic loci in the Diabetes UK Warren 2 genome scan and identify putative novel loci on chromosomes 8q21, 21q22, and 22q11.

scientific article

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