List of works by Massimo Mangino

2SNP heritability and effects of genetic variants for neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio

scientific article published on 3 August 2017

A Novel Mutation (R271X) in the Myotubularin Gene Causes a Severe Miotubular Myopathy

article

A common variant in the telomerase RNA component is associated with short telomere length

scientific article

A comprehensive evaluation of potential lung function associated genes in the SpiroMeta general population sample

scientific article

A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12–q12.1

article

A genetic IFN/STAT1/FAS axis determines CD4 T stem cell memory levels and apoptosis in healthy controls and Adult T-cell Leukemia patients.

scientific article published on 13 February 2018

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 a novel locus on chromosome 18q12.2 influencing white cell telomere length.

scientific article published on 08 April 2009

A genome-wide association study of early menopause and the combined impact of identified variants

scientific article published on 9 January 2013

A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium

scientific article

A genome-wide screen for interactions reveals a new locus on 4p15 modifying the effect of waist-to-hip ratio on total cholesterol

scientific article

A genomewide linkage study of 1,933 families affected by premature coronary artery disease: The British Heart Foundation (BHF) Family Heart Study

scientific article

A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration

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 rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

scientific article

A regulatory SNP of the BICD1 gene contributes to telomere length variation in humans

article

A single-nucleotide polymorphism in the human bone morphogenetic protein-4 ( BMP 4 ) gene

article

Acne and Telomere Length: A New Spectrum Between Senescence and Apoptosis Pathways

scientific article (publication date: September 2016)

Adiposity as a cause of cardiovascular disease: a Mendelian randomization study

scientific article

Age- and sex-specific causal effects of adiposity on cardiovascular risk factors

scientific article published on 23 February 2015

Alcohol-induced metabolomic differences in humans

scientific article published on 02 July 2013

An investigation of rheumatoid arthritis loci in patients with early-onset psoriasis validates association of the REL gene.

scientific article published on 27 February 2013

An obesogenic postnatal environment is more important than the fetal environment for the development of adult adiposity: a study of female twins.

scientific article published on 24 June 2009

Arachidonate 5-lipoxygenase (5-LO) promoter genotype and risk of myocardial infarction: a case-control study

scientific article published on 7 January 2008

Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11

scientific article (publication date: October 2002)

Association Between Telomere Length and Risk of Cancer and Non-Neoplastic Diseases: A Mendelian Randomization Study ⬇️

scientific article published on 23 February 2017

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

scientific article (publication date: November 2010)

Association analysis of IL-12B and IL-23R polymorphisms in myocardial infarction

scientific article published on 28 September 2007

Association of Cross-Sectional and Longitudinal Change in Arterial Stiffness With Gene Expression in the Twins UK Cohort

scientific article published on 16 November 2015

Association of adiponectin and leptin with relative telomere length in seven independent cohorts including 11,448 participants

scientific article

Association of adiposity genetic variants with menarche timing in 92,105 women of European descent

scientific article published on 04 April 2013

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

Better governance, better access: practising responsible data sharing in the METADAC governance infrastructure.

scientific article published on 26 April 2018

Biological, clinical and population relevance of 95 loci for blood lipids

scientific article

Bivariate genetic modelling of the response to an oral glucose tolerance challenge: a gene x environment interaction approach

scientific article published on 14 March 2009

Body mass index is negatively associated with telomere length: a collaborative cross-sectional meta-analysis of 87 observational studies

scientific article published in September 2018

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

scientific article published on 29 September 2017

Characterizing Blood Metabolomics Profiles Associated with Self-Reported Food Intakes in Female Twins.

scientific article

Circulating Proteomic Signatures of Chronological Age.

scientific article published on 14 August 2014

Common Genetic Determinants of Vitamin D Insufficiency: A Genome-Wide Association Study

Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families

article by Padhraig Gormley et al published September 2018 in Neuron

Common and Rare Coding Genetic Variation Underlying the Electrocardiographic PR Interval

Common genetic determinants of vitamin D insufficiency: a genome-wide association study

scientific article

Common variants associated with plasma triglycerides and risk for coronary artery disease

scientific article

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

scientific article

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

scientific article

Common variants near TERC are associated with mean telomere length

scientific article published on 7 February 2010

Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study

scientific article

Consumption of Stilbenes and Flavonoids is Linked to Reduced Risk of Obesity Independently of Fiber Intake

scientific article published on 23 June 2020

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: Lifelong Reduction of LDL-Cholesterol Related to a Common Variant in the LDL-Receptor Gene Decreases the Risk of Coronary Artery Disease—A Mendelian Randomisation Study.

scientific article

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

DCAF4, a novel gene associated with leucocyte telomere length

scientific article

DNA methylation-based estimator of telomere length

scientific article published on 18 August 2019

Decreasing initial telomere length in humans intergenerationally understates age-associated telomere shortening

scientific article

Defining the genetic control of human blood plasma N-glycome using genome-wide association study

Defining the genetic control of human blood plasma N-glycome using genome-wide association study

scientific article published on 01 June 2019

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

scientific article

Definitive Zygosity Scores in the Peas in the Pod Questionnaire is a Sensitive and Accurate Assessment of the Zygosity of Adult Twins

Dietary Influence on Systolic and Diastolic Blood Pressure in the TwinsUK Cohort

scientific article published on 17 July 2020

Differences in genetic and environmental variation in adult BMI by sex, age, time period, and region: an individual-based pooled analysis of 40 twin cohorts

scientific article

Differential associations between a priori diet quality scores and markers of cardiovascular health in women: cross sectional analyses from Twins UK

scientific article published on 10 December 2020

Differential profile analysis of urinary cytokines in patients with overactive bladder: comment

article published in 2012

Directional dominance on stature and cognition in diverse human populations

scientific article published in July 2015

Discovery and refinement of loci associated with lipid levels

scientific article

Discovery of novel heart rate-associated loci using the Exome Chip

scientific article

Dysregulated Antibody, Natural Killer Cell and Immune Mediator Profiles in Autoimmune Thyroid Diseases

scientific article published on 09 March 2020

Effects of Calcium, Magnesium, and Potassium Concentrations on Ventricular Repolarization in Unselected Individuals

scientific article published on 01 June 2019

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

scientific article

Enhanced linkage of a locus on chromosome 2 to premature coronary artery disease in the absence of hypercholesterolemia.

scientific article published on 6 December 2006

Epigenome-wide scans identify differentially methylated regions for age and age-related phenotypes in a healthy ageing population

scientific article

Erratum to: Influence of acquired obesity on coronary vessel wall late gadolinium enhancement in discordant monozygote twins.

scientific article published on 4 July 2017

Erratum: A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans

scientific article published on 12 May 2015

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 telomere length from whole genome sequence data

scientific article

Exome chip meta-analysis fine maps causal variants and elucidates the genetic architecture of rare coding variants in smoking and alcohol use

scientific article published on 06 December 2018

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

ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals

FTO genotype is associated with phenotypic variability of body mass index

scientific article published on 16 September 2012

Familial chronic nail candidiasis with ICAM-1 deficiency: a new form of chronic mucocutaneous candidiasis

scientific article published in September 2002

First-trimester prenatal diagnosis of Ellis-van Creveld syndrome using linked microsatellite markers

scientific article published on 01 May 1998

First‐trimester prenatal diagnosis of Ellis–van Creveld syndrome using linked microsatellite markers

scholarly article by I. Torrente et al published May 1998 in Prenatal Diagnosis

GWAS analysis of handgrip and lower body strength in older adults in the CHARGE consortium

scientific article

GWAS of epigenetic aging rates in blood reveals a critical role for TERT.

scientific article published on 26 January 2018

Gender and telomere length: systematic review and meta-analysis

scientific article published on 21 December 2013

Genetic Influences on Metabolite Levels: A Comparison across Metabolomic Platforms

scientific article

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

scientific article published on 11 September 2020

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scientific article published on 17 September 2018

Genetic analysis of over one million people identifies 535 novel loci for blood pressure

Genetic and environmental effects on body mass index from infancy to the onset of adulthood: an individual-based pooled analysis of 45 twin cohorts participating in the COllaborative project of Development of Anthropometrical measures in Twins (CODA

scientific article published on 13 July 2016

Genetic and environmental influences on adult human height across birth cohorts from 1886 to 1994.

scientific article published on 14 December 2016

Genetic and environmental influences on height from infancy to early adulthood: An individual-based pooled analysis of 45 twin cohorts

scientific article published on 23 June 2016

Genetic architecture of circulating lipid levels

scientific article

Genetic evidence of assortative mating in humans

article

Genetic insights into biological mechanisms governing human ovarian ageing

scientific article

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

scientific article

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

scientific article published on 6 October 2011

Genetic variation in the SMAD3 gene is associated with hip and knee osteoarthritis

scientific article published in August 2010

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile

scientific article published on 26 June 2011

Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up

scientific article published on 12 May 2015

Genome Analyses of >200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

scientific article published in November 2018

Genome wide association analysis of a founder population identified TAF3 as a gene for MCHC in humans

scientific article

Genome-Wide Meta-Analysis of Cotinine Levels in Cigarette Smokers Identifies Locus at 4q13.2.

scientific article published on February 2016

Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length

scientific article published on 27 February 2020

Genome-wide association analyses identify 18 new loci associated with serum urate concentrations

scientific article published in February 2013

Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention ⬇️

scientific article published on 7 September 2022

Genome-wide association analysis identifies 20 loci that influence adult height

scientific article (publication date: May 2008)

Genome-wide association analysis of coffee drinking suggests association with CYP1A1/CYP1A2 and NRCAM

scientific article

Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis

scientific journal article

Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

scientific journal article

Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

scientific article

Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology

scientific article

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

scientific article published in June 2009

Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging

scientific article

Genome-wide association study identifies 48 common genetic variants associated with handedness

scientific article published on 28 September 2020

Genome-wide association study identifies 74 loci associated with educational attainment

scientific article published on 11 May 2016

Genome-wide association study identifies five loci associated with lung function

scientific article

Genome-wide association study identifies nine novel loci for 2D:4D finger ratio, a putative retrospective biomarker of testosterone exposure in utero.

scientific article published on 12 April 2018

Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels

scientific article

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure

scientific article

Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A.

scientific article

Genome-wide association study identifies variants in casein kinase II (CSNK2A2) to be associated with leukocyte telomere length in a Punjabi Sikh diabetic cohort

scientific article

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

scientific article

Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior

scientific article published on 3 October 2016

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 points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans

scientific article

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 scan identifies novel genetic loci regulating salivary metabolite levels

scientific article published on 01 March 2020

Genomewide association analysis of coronary artery disease

scientific article

Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

scientific article published on 23 September 2016

Genomic inflation factors under polygenic inheritance

scientific article

Genomics of ageing in twins

scientific article published on July 2014

Glycans are a novel biomarker of chronological and biological ages

scientific article

Glycosylation Profile of IgG in Moderate Kidney Dysfunction

scientific article published on 16 July 2015

Glycosylation Profile of Immunoglobulin G Is Cross-Sectionally Associated With Cardiovascular Disease Risk Score and Subclinical Atherosclerosis in Two Independent Cohorts.

scientific article

Glycosylation of immunoglobulin G is regulated by a large network of genes pleiotropic with inflammatory diseases

scientific article published on 19 February 2020

Glycosylation of immunoglobulin g: role of genetic and epigenetic influences

scientific article

Gut microbial diversity is associated with lower arterial stiffness in women.

scientific article published in July 2018

Hereditary gingival fibromatosis (HGF) with hypertrichosis is unlinked to the HGF1 and HGF2 loci

Heritability analyses show visit-to-visit blood pressure variability reflects different pathological phenotypes in younger and older adults: evidence from UK twins

scientific article published in December 2013

Heritability of insulin sensitivity and lipid profile depend on BMI: evidence for gene-obesity interaction

scientific article published on 11 October 2009

Heritable components of the human fecal microbiome are associated with visceral fat.

scientific article published on 26 September 2016

Human metabolic individuality in biomedical and pharmaceutical research

scientific article (publication date: 31 August 2011)

Human postprandial responses to food and potential for precision nutrition

scientific article published on 11 June 2020

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

scientific article

ID: 239

IRF4 variants have age-specific effects on nevus count and predispose to melanoma

scientific article

Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus

scientific article

Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangism

article

Identification of new susceptibility loci for osteoarthritis (arcOGEN): a genome-wide association study

scientific article

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains

scientific article (publication date: August 2001)

Identification of seven loci affecting mean telomere length and their association with disease

scientific article published on April 2013

Inference of the genetic architecture underlying BMI and height with the use of 20,240 sibling pairs

scientific article published on 31 October 2013

Influence of acquired obesity on coronary vessel wall late gadolinium enhancement in discordant monozygote twins.

scientific article published on 14 October 2016

Innate and adaptive immune traits are differentially affected by genetic and environmental factors

scientific article published on 05 January 2017

Integrated multiomics approach identifies calcium and integrin-binding protein-2 as a novel gene for pulse wave velocity

scientific article published on 16 September 2015

Interaction between allelic variations in vitamin D receptor and retinoid X receptor genes on metabolic traits

scientific article

KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference

scientific article

LGALS2 functional variant rs7291467 is not associated with susceptibility to myocardial infarction in Caucasians

scientific article

Lack of association of genetic variants in the LRP8 gene with familial and sporadic myocardial infarction

article

Large scale replication study of the association between HLA class II/BTNL2 variants and osteoarthritis of the knee in European-descent populations

scientific article (publication date: 2011)

Large-Scale Genomic Analyses Link Reproductive Aging to Hypothalamic Signaling, Breast Cancer Susceptibility, and BRCA1-Mediated DNA Repair

scientific article published in December 2015

Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness.

scientific article published on 12 July 2017

Large-scale GWAS of food liking reveals genetic determinants and genetic correlations with distinct neurophysiological traits

scientific article published on 18 May 2022

Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways

scientific article

Large-scale genome-wide association meta-analysis of endometriosis reveals 13 novel loci and genetically-associated comorbidity with other pain conditions

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

scientific article published in November 2015

Leukocyte telomere length and marital status among middle-aged adults

scientific article

Leukotriene B4production in healthy subjects carrying variants of the arachidonate 5-lipoxygenase-activating protein gene associated with a risk of myocardial infarction

article

Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study

scientific article published in 2008

Lipidomics profiling and risk of cardiovascular disease in the prospective population-based Bruneck study

scientific article published on 12 March 2014

Localization of a gene for familial patella aplasia-hypoplasia (PTLAH) to chromosome 17q21-22

scientific article

Loss of smell and taste in combination with other symptoms is a strong predictor of COVID-19 infection

scientific article published on 07 April 2020

Low copy number of the salivary amylase gene predisposes to obesity.

scientific article published on 30 March 2014

Lower urinary tract symptoms in men with Parkinson disease

scientific article published in December 2013

Mapping of a major locus that determines telomere length in humans

scientific article

Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12.

scientific article

Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26.

scientific article published in September 2001

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

scientific article

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 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations

scientific article published in June 2009

Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations

scientific article

Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis

scientific article

Meta-analysis of telomere length in 19,713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect

scientific article published on 16 January 2013

Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci

scientific article published on 07 January 2019

Metabolomic identification of a novel pathway of blood pressure regulation involving hexadecanedioate

scientific article published in June 2015

Metabolomic profiling identifies novel associations with Electrolyte and Acid-Base Homeostatic patterns

scientific article published on 21 October 2019

Metabolomic study of carotid-femoral pulse-wave velocity in women

scientific article

Metabolomics profiling reveals novel markers for leukocyte telomere length.

scientific article published on 20 January 2016

Metabolomics reveals a link between homocysteine and lipid metabolism and leukocyte telomere length: the ENGAGE consortium

scientific article published on 12 August 2019

Modulation of genetic associations with serum urate levels by body-mass-index in humans

scientific article

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

scientific article published on 21 May 2020

Multiple loci are associated with white blood cell phenotypes

scientific article

Multivariate discovery and replication of five novel loci associated with Immunoglobulin G N-glycosylation

scientific article published on 6 September 2017

Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations

scientific article published in 2022

Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa

scientific article (publication date: September 1999)

NF1 gene analysis based on DHPLC

scientific article published on 01 February 2003

New alcohol-related genes suggest shared genetic mechanisms with neuropsychiatric disorders

scientific article published on 29 July 2019

New gene functions in megakaryopoiesis and platelet formation

scientific article published on 30 November 2011

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 for body fat percentage reveal link between adiposity and cardiometabolic disease risk ⬇️

scientific article published on February 2016

Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney

scientific article

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

scientific article

Novel loci associated with usual sleep duration: the CHARGE Consortium Genome-Wide Association Study

scientific article published on 2 December 2014

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

Novel regional age-associated DNA methylation changes within human common disease-associated loci

scientific article published on 23 September 2016

Obligatory and facilitative allelic variation in the DNA methylome within common disease-associated loci

scientific article published on 2 January 2018

Omega-6 oxylipins generated by soluble epoxide hydrolase are associated with knee osteoarthritis

scientific article published on 09 July 2018

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

scientific article

Paternal age and telomere length in twins: the germ stem cell selection paradigm

scientific article

Physical activity attenuates the influence of FTO variants on obesity risk: a meta-analysis of 218,166 adults and 19,268 children

scientific article

Plasma N-glycome composition associates with chronic low back pain

article

PopPAnTe: population and pedigree association testing for quantitative data

scientific article

PopPAnTe: population and pedigree association testing for quantitative data

Positive Association Between Vitamin D Serum Levels and Naevus Counts

scientific article published on 21 November 2016

Probable delirium is a presenting symptom of COVID-19 in frail, older adults: a cohort study of 322 hospitalised and 535 community-based older adults

scientific article published on 28 September 2020

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

scholarly article published in Nature Genetics

Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits

erratum

Publisher Correction: Human postprandial responses to food and potential for precision nutrition

scientific article published on 20 October 2020

Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control

scientific article

Real-time tracking of self-reported symptoms to predict potential COVID-19

scientific article published on 11 May 2020

Reduced telomere length is associated with fibrotic joint disease suggesting that impaired telomere repair contributes to joint fibrosis.

scientific article published on 2 January 2018

Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease

scientific article published on 24 March 2008

Salt-inducible kinase 3, SIK3, is a new gene associated with hearing

scientific article

Self-Reported Symptoms of COVID-19, Including Symptoms Most Predictive of SARS-CoV-2 Infection, Are Heritable

scientific article

Self-reported symptoms of covid-19 including symptoms most predictive of SARS-CoV-2 infection, are heritable

scientific article published on 24 April 2020

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

scientific article published on 19 December 2017

Sequence variants at CHRNB3-CHRNA6 and CYP2A6 affect smoking behavior

scientific article

Serum metabolites reflecting gut microbiome alpha diversity predict type 2 diabetes

scientific article published on 24 June 2020

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

scientific article

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

scientific article

Six novel susceptibility Loci for early-onset androgenetic alopecia and their unexpected association with common diseases

scientific article

Skin phenotypes can offer some insight about the association between telomere length and cancer susceptibility.

scientific article published on 19 October 2016

Smoking induces coordinated DNA methylation and gene expression changes in adipose tissue with consequences for metabolic health

scientific article published on 20 October 2018

Smoking induces coordinated DNA methylation and gene expression changes in adipose tissue with consequences for metabolic health

Telomere length in circulating leukocytes is associated with lung function and disease.

scientific article published on 5 December 2013

Telomeres and the natural lifespan limit in humans

scientific article

The CODATwins Project: The Cohort Description of Collaborative Project of Development of Anthropometrical Measures in Twins to Study Macro-Environmental Variation in Genetic and Environmental Effects on Anthropometric Traits

scientific article

The Consortium of Metabolomics Studies (COMETS): Metabolomics in 47 Prospective Cohort Studies

scientific article published on 01 June 2019

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

scientific article

The Pharmacogenetic Footprint of ACE Inhibition: A Population-Based Metabolomics Study

scientific article

The fecal metabolome as a functional readout of the gut microbiome

article

The genetic architecture of the human immune system: a bioresource for autoimmunity and disease pathogenesis

scientific article

The genetic architecture of type 2 diabetes

scientific article (publication date: 11 July 2016)

The novel genetic variant predisposing to coronary artery disease in the region of the PSRC1 and CELSR2 genes on chromosome 1 associates with serum cholesterol

scientific article published on 23 July 2008

The power of genetic diversity in genome-wide association studies of lipids

The rate of nonallelic homologous recombination in males is highly variable, correlated between monozygotic twins and independent of age

scientific article published on 06 March 2014

The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis

scientific article (publication date: 2013)

Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies

scientific article

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa

article

Trans-ethnic association study of blood pressure determinants in over 750,000 individuals

scientific article published on 21 December 2018

TwinsUK: The UK Adult Twin Registry Update

scientific article published on 17 September 2019

Two new missense mutations (A105T and C110G) in the Norrin gene in two Italian families with Norrie disease and familial exudative vitreoretinopathy

article

Understanding coronary artery disease using twin studies

scientific article

Vaccine side-effects and SARS-CoV-2 infection after vaccination in users of the COVID Symptom Study app in the UK: a prospective observational study

scientific article

Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease

scientific article

Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites

scientific article published on 6 March 2017

Zygosity Differences in Height and Body Mass Index of Twins From Infancy to Old Age: A Study of the CODATwins Project

scientific article

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