List of works - John Loughlin

A consistent and potentially exploitable response during chondrogenesis of mesenchymal stem cells from osteoarthritis patients to the protein encoded by the susceptibility gene GDF5

scientific article

A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22

scientific journal article

A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility

article

A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip

scientific article

A proteomic analysis of chondrogenic, osteogenic and tenogenic constructs from ageing mesenchymal stem cells

scientific article published on 14 September 2016

A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression.

scientific article published on 29 August 2012

A variant in MCF2L is associated with osteoarthritis

scientific article

Age-related changes in mesenchymal stem cells identified using a multi-omics approach

scientific article published on 8 February 2016

Allelic expression analysis of the osteoarthritis susceptibility gene COL11A1 in human joint tissues.

scientific article published on 8 March 2013

Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3 ⬇️

scientific article published on March 2, 2012

Allelic expression analysis of the osteoarthritis susceptibility locus that maps to chromosome 3p21 reveals cis-acting eQTLs at GNL3 and SPCS1

scientific article

Allelic expression analysis suggests that cis-acting polymorphism of FRZB expression does not contribute to osteoarthritis susceptibility

scientific article published on 02 August 2006

An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage

scientific article published on 06 July 2007

Analysis of the association of the matrillin-1 gene (CRTM) with osteoarthritis: comment on the article by Meulenbelt et al

scientific article published on 01 June 2000

Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies

scientific article

Association analysis of the vitamin D receptor gene, the type I collagen gene COL1A1, and the estrogen receptor gene in idiopathic osteoarthritis

scientific article published on 01 March 2000

Association of a BMP5 microsatellite with knee osteoarthritis: case-control study

scientific article published on 27 November 2012

Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis.

scientific article

Association of a nsSNP in ADAMTS14 to some osteoarthritis phenotypes

scientific article published on 14 September 2008

Association of the interleukin-1 gene cluster on chromosome 2q13 with knee osteoarthritis

scientific article published on 01 June 2002

Association of the interleukin-1 gene cluster with osteoarthritis of the hip: comment on the article by Meulenbelt et al and the letter by Smith et al

scientific article published on 01 November 2006

BMP5 activates multiple signaling pathways and promotes chondrogenic differentiation in the ATDC5 growth plate model.

scientific article published on August 2010

Big is beautiful

scientific article published on 13 November 2007

Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity

scientific article

Characterization of the cartilage DNA methylome in knee and hip osteoarthritis

scientific article

Cohort profile: The Applied Public-Private Research enabling OsteoArthritis Clinical Headway (IMI-APPROACH) study: a 2-year, European, cohort study to describe, validate and predict phenotypes of osteoarthritis using clinical, imaging and biochemica

scientific article published on 28 July 2020

Common genetic variation in the Estrogen Receptor Beta (ESR2) gene and osteoarthritis: results of a meta-analysis

scientific article

Common variants within the interleukin 4 receptor alpha gene (IL4R) are associated with susceptibility to osteoarthritis.

scientific article published on 24 January 2004

Common variations in estrogen-related genes are associated with severe large-joint osteoarthritis: a multicenter genetic and functional study

article

Correlation of the osteoarthritis susceptibility variants that map to chromosome 20q13 with an expression quantitative trait locus operating on NCOA3 and with functional variation at the polymorphism rs116855380.

scientific article published on 20 July 2015

CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs143383.

scientific article

Crystals in hand.

scientific article

Decoding the Regulatory Landscape of Ageing in Musculoskeletal Engineered Tissues Using Genome-Wide DNA Methylation and RNASeq.

scientific article

Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus

scientific article published on 31 January 2011

Differential DNA methylation and expression of inflammatory and zinc transporter genes defines subgroups of osteoarthritic hip patients

scientific article

Differential allelic expression of the type II collagen gene (COL2A1) in osteoarthritic cartilage

scientific article published on May 1995

Discovery and analysis of methylation quantitative trait loci (mQTLs) mapping to novel osteoarthritis genetic risk signals

scientific article published on 05 June 2019

European Y-chromosomal lineages in Polynesians: a contrast to the population structure revealed by mtDNA.

scientific article

Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data

scientific article

Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs11842874.

scientific article published on 19 November 2015

Expression analysis of the osteoarthritis genetic susceptibility mapping to the matrix Gla protein gene MGP.

scientific article

Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation.

scientific article published on 3 June 2011

Extreme context specificity in differential allelic expression

scientific article

Familial inheritance of osteoarthritis: documented family subsets.

scientific article

Finer linkage mapping of a primary hip osteoarthritis susceptibility locus on chromosome 6

scientific article published on 01 September 2002

Finer linkage mapping of primary hip osteoarthritis susceptibility on chromosome 11q in a cohort of affected female sibling pairs

scientific article published on 01 July 2002

Finer linkage mapping of primary osteoarthritis susceptibility loci on chromosomes 4 and 16 in families with affected women

scientific article published on 01 January 2004

Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism

scientific article published on 01 July 2009

Functional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs9350591.

scientific article published on 7 September 2015

Functional testing of thousands of osteoarthritis-associated variants for regulatory activity.

scientific article

Functional variants within the secreted frizzled-related protein 3 gene are associated with hip osteoarthritis in females.

scholarly article

GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

scientific article published on 03 May 2019

Gene expression analysis reveals HBP1 as a key target for the osteoarthritis susceptibility locus that maps to chromosome 7q22

scientific article published on 14 May 2012

Gene hunting in primary osteoarthritis.

scientific article published on 12 September 2003

Genetic association analysis of BMP5 as a potential osteoarthritis susceptibility gene

scientific article published on 01 July 2003

Genetic association analysis of LRCH1 as an osteoarthritis susceptibility locus

scientific article published on 05 August 2006

Genetic association analysis of RHOB and TXNDC3 in osteoarthritis

scientific article

Genetic association analysis of the IGFBP7, ADAMTS3, and IL8 genes as the potential osteoarthritis susceptibility that maps to chromosome 4q.

scientific article published on March 2005

Genetic background increases the risk of hip osteoarthritis

scientific article published on 01 February 2005

Genetic contribution to osteoarthritis development: current state of evidence

scientific article

Genetic indicators and susceptibility to osteoarthritis: Figure 1 ⬇️

scientific article published on 01 April 2011

Genetic influences in end-stage osteoarthritis. Sibling risks of hip and knee replacement for idiopathic osteoarthritis

scientific article published on 01 July 1997

Genetic influences on osteoarthritis in women: a twin study

scientific article published on April 1996

Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene

scientific article

Genetic variation including nonsynonymous polymorphisms of a major aggrecanase, ADAMTS-5, in susceptibility to osteoarthritis.

scientific article

Genetics and epigenetics of osteoarthritis.

scientific article published on 29 December 2011

Genetics of osteoarthritis and potential for drug development.

scientific article

Genetics of osteoarthritis.

scientific article published in September 2011

Genetics of osteoarthritis.

scientific article published on 13 September 2004

Genome editing for human osteoarthritis - a perspective

scientific article published on 18 May 2017

Genome-wide association scan identifies a prostaglandin-endoperoxide synthase 2 variant involved in risk of knee osteoarthritis

scientific journal article

Genome-wide association study of developmental dysplasia of the hip identifies an association with

scientific article published on 31 May 2018

Germline and somatic mosaicism in achondroplasia.

scientific article published in December 2000

Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome

scientific article

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

scientific article

Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis risk

scientific article published on 01 October 2018

Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia

scientific article published on 01 January 1998

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

scientific article published on July 3, 2012

Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

scientific article

Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA

scientific article published on 31 May 2012

Increased type II deiodinase protein in OA-affected cartilage and allelic imbalance of OA risk polymorphism rs225014 at DIO2 in human OA joint tissues

scientific article published on 04 April 2012

Insights from human genetic studies into the pathways involved in osteoarthritis ⬇️

scientific article published on August 20, 2013

Insights into the genetic architecture of osteoarthritis from stage 1 of the arcOGEN study

scientific article

Interplay between genetics and epigenetics in osteoarthritis

scientific article published on 09 April 2020

Large replication study and meta-analyses of DVWA as an osteoarthritis susceptibility locus in European and Asian populations

scientific article published on 30 January 2009

Large-scale analysis of association between GDF5 and FRZB variants and osteoarthritis of the hip, knee, and hand

scientific article published on June 2009

Linkage analysis of candidate genes as susceptibility loci for osteoarthritis-suggestive linkage of COL9A1 to female hip osteoarthritis

scientific article published on 01 March 2000

Linkage analysis of chromosome 2q in osteoarthritis

scientific article published on 01 April 2000

Linkage of the gene that encodes the alpha 1 chain of type V collagen (COL5A1) to type II Ehlers-Danlos syndrome (EDS II)

scientific article published on 01 September 1995

Meta-analyses of genes modulating intracellular T3 bio-availability reveal a possible role for the DIO3 gene in osteoarthritis susceptibility

scientific article published on 19 August 2010

Meta-analysis of association between the ASPN D-repeat and osteoarthritis

scientific article (publication date: 15 July 2007)

Meta-analysis of genome-wide association studies confirms a susceptibility locus for knee osteoarthritis on chromosome 7q22

scientific article

Methylation quantitative trait locus analysis of osteoarthritis links epigenetics with genetic risk

scientific article

Microsatellite association mapping of a primary osteoarthritis susceptibility locus on chromosome 6p12.3-q13

scientific article published on 01 December 2004

Mutation screening by a combination of biotin-SSCP and direct sequencing

scientific article published on 01 March 1994

Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome ⬇️

scientific article published on September 1, 1998

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.

scientific article

No evidence of an association between mitochondrial DNA variants and osteoarthritis in 7393 cases and 5122 controls

scientific article

Novel mutations in exon 2 of MATN3 affect residues within the alpha-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3

scientific article published on 01 February 2008

Osteoarthritis linkage scan: more loci for the geneticists to investigate.

scientific article published on October 2006

Osteoarthritis year 2010 in review: genetics.

scientific article published on 12 February 2011

Osteoarthritis-susceptibility locus on chromosome 11q, detected by linkage.

scientific article

Osteoarthritis: All types of trouble--defining OA in the genomic era

scientific article published on 08 March 2011

Osteoarthritis: Epigenetics of articular cartilage in knee and hip OA

scientific article published on 04 November 2014

Polymorphism in signal transduction is a major route through which osteoarthritis susceptibility is acting.

scientific article

Presence of a primary hip osteoarthritis susceptibility locus on chromosome 6: comment on the article by Meenagh et al

scientific article published on 01 March 2006

Prioritization of PLEC and GRINA as Osteoarthritis Risk Genes Through the Identification and Characterization of Novel Methylation Quantitative Trait Loci

scientific article published on 27 June 2019

Refined linkage mapping of a hip osteoarthritis susceptibility locus on chromosome 2q

scientific article published on 01 August 2002

Reproducible genetic associations between candidate genes and clinical knee osteoarthritis in men and women.

scientific article

Sex and ethnic differences in the association ofASPN,CALM1,COL2A1,COMP, andFRZB with genetic susceptibility to osteoarthritis of the knee

article

Sibling pair analysis shows no linkage of generalized osteoarthritis to the loci encoding type II collagen, cartilage link protein or cartilage matrix protein

scientific article published on 01 December 1994

Stratification analysis of an osteoarthritis genome screen-suggestive linkage to chromosomes 4, 6, and 16.

scientific article published on December 1999

Summary of the OA biomarkers workshop 2010 - genetics and genomics: new targets in OA.

scientific article published on 16 June 2011

The CALM1 core promoter polymorphism is not associated with hip osteoarthritis in a United Kingdom Caucasian population

scientific article published on 13 December 2005

The common HFE variants C282Y and H63D are not associated with primary OA of the hip or knee

scientific article published on 01 February 2005

The effect of genome-wide association scan quality control on imputation outcome for common variants ⬇️

scientific article published on 26 January 2011

The first international workshop on the epigenetics of osteoarthritis

scientific article

The genetic epidemiology of human primary osteoarthritis: current status.

scientific article

The genetics and functional analysis of primary osteoarthritis susceptibility.

scientific article published on 18 February 2013

The identification of trans-acting factors that regulate the expression of GDF5 via the osteoarthritis susceptibility SNP rs143383.

scientific article

The role of inflammation-related genes in osteoarthritis

scientific article

Translation of clinical problems in osteoarthritis into pathophysiological research goals

scientific article published on 26 May 2016

Variation in the secreted frizzled-related protein-3 gene and risk of osteolysis and heterotopic ossification after total hip arthroplasty

scientific article published on 01 December 2007

Whole-genome sequencing identifies rare genotypes in COMP and CHADL associated with high risk of hip osteoarthritis

scientific article published on 20 March 2017

List of works by John Loughlin

A consistent and potentially exploitable response during chondrogenesis of mesenchymal stem cells from osteoarthritis patients to the protein encoded by the susceptibility gene GDF5

A genome-wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22

A meta-analysis of European and Asian cohorts reveals a global role of a functional SNP in the 5' UTR of GDF5 with osteoarthritis susceptibility

A meta-analysis of genome-wide association studies identifies novel variants associated with osteoarthritis of the hip

A proteomic analysis of chondrogenic, osteogenic and tenogenic constructs from ageing mesenchymal stem cells

A rare variant in the osteoarthritis-associated locus GDF5 is functional and reveals a site that can be manipulated to modulate GDF5 expression.

A variant in MCF2L is associated with osteoarthritis

Age-related changes in mesenchymal stem cells identified using a multi-omics approach

Allelic expression analysis of the osteoarthritis susceptibility gene COL11A1 in human joint tissues.

Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL3 ⬇️

Allelic expression analysis of the osteoarthritis susceptibility locus that maps to chromosome 3p21 reveals cis-acting eQTLs at GNL3 and SPCS1

Allelic expression analysis suggests that cis-acting polymorphism of FRZB expression does not contribute to osteoarthritis susceptibility

An SNP in the 5'-UTR of GDF5 is associated with osteoarthritis susceptibility in Europeans and with in vivo differences in allelic expression in articular cartilage

Analysis of the association of the matrillin-1 gene (CRTM) with osteoarthritis: comment on the article by Meulenbelt et al

Assessment of osteoarthritis candidate genes in a meta-analysis of nine genome-wide association studies

Association analysis of the vitamin D receptor gene, the type I collagen gene COL1A1, and the estrogen receptor gene in idiopathic osteoarthritis

Association of a BMP5 microsatellite with knee osteoarthritis: case-control study

Association of a functional microsatellite within intron 1 of the BMP5 gene with susceptibility to osteoarthritis.

Association of a nsSNP in ADAMTS14 to some osteoarthritis phenotypes

Association of the interleukin-1 gene cluster on chromosome 2q13 with knee osteoarthritis

Association of the interleukin-1 gene cluster with osteoarthritis of the hip: comment on the article by Meulenbelt et al and the letter by Smith et al

BMP5 activates multiple signaling pathways and promotes chondrogenic differentiation in the ATDC5 growth plate model.

Big is beautiful

Brachydactyly type B: linkage to chromosome 9q22 and evidence for genetic heterogeneity

Characterization of the cartilage DNA methylome in knee and hip osteoarthritis

Cohort profile: The Applied Public-Private Research enabling OsteoArthritis Clinical Headway (IMI-APPROACH) study: a 2-year, European, cohort study to describe, validate and predict phenotypes of osteoarthritis using clinical, imaging and biochemica

Common genetic variation in the Estrogen Receptor Beta (ESR2) gene and osteoarthritis: results of a meta-analysis

Common variants within the interleukin 4 receptor alpha gene (IL4R) are associated with susceptibility to osteoarthritis.

Common variations in estrogen-related genes are associated with severe large-joint osteoarthritis: a multicenter genetic and functional study

Correlation of the osteoarthritis susceptibility variants that map to chromosome 20q13 with an expression quantitative trait locus operating on NCOA3 and with functional variation at the polymorphism rs116855380.

CpG methylation regulates allelic expression of GDF5 by modulating binding of SP1 and SP3 repressor proteins to the osteoarthritis susceptibility SNP rs143383.

Crystals in hand.

Decoding the Regulatory Landscape of Ageing in Musculoskeletal Engineered Tissues Using Genome-Wide DNA Methylation and RNASeq.

Deep sequencing of GDF5 reveals the absence of rare variants at this important osteoarthritis susceptibility locus

Differential DNA methylation and expression of inflammatory and zinc transporter genes defines subgroups of osteoarthritic hip patients

Differential allelic expression of the type II collagen gene (COL2A1) in osteoarthritic cartilage

Discovery and analysis of methylation quantitative trait loci (mQTLs) mapping to novel osteoarthritis genetic risk signals

European Y-chromosomal lineages in Polynesians: a contrast to the population structure revealed by mtDNA.

Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data

Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs11842874.

Expression analysis of the osteoarthritis genetic susceptibility mapping to the matrix Gla protein gene MGP.

Expression of the osteoarthritis-associated gene GDF5 is modulated epigenetically by DNA methylation.

Extreme context specificity in differential allelic expression

Familial inheritance of osteoarthritis: documented family subsets.

Finer linkage mapping of a primary hip osteoarthritis susceptibility locus on chromosome 6

Finer linkage mapping of primary hip osteoarthritis susceptibility on chromosome 11q in a cohort of affected female sibling pairs

Finer linkage mapping of primary osteoarthritis susceptibility loci on chromosomes 4 and 16 in families with affected women

Functional analysis of the osteoarthritis susceptibility-associated GDF5 regulatory polymorphism

Functional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs9350591.

Functional testing of thousands of osteoarthritis-associated variants for regulatory activity.

Functional variants within the secreted frizzled-related protein 3 gene are associated with hip osteoarthritis in females.

GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

Gene expression analysis reveals HBP1 as a key target for the osteoarthritis susceptibility locus that maps to chromosome 7q22

Gene hunting in primary osteoarthritis.

Genetic association analysis of BMP5 as a potential osteoarthritis susceptibility gene

Genetic association analysis of LRCH1 as an osteoarthritis susceptibility locus

Genetic association analysis of RHOB and TXNDC3 in osteoarthritis

Genetic association analysis of the IGFBP7, ADAMTS3, and IL8 genes as the potential osteoarthritis susceptibility that maps to chromosome 4q.

Genetic background increases the risk of hip osteoarthritis

Genetic contribution to osteoarthritis development: current state of evidence

Genetic indicators and susceptibility to osteoarthritis: Figure 1 ⬇️

Genetic influences in end-stage osteoarthritis. Sibling risks of hip and knee replacement for idiopathic osteoarthritis

Genetic influences on osteoarthritis in women: a twin study

Genetic mapping of a locus for multiple epiphyseal dysplasia (EDM2) to a region of chromosome 1 containing a type IX collagen gene

Genetic variation including nonsynonymous polymorphisms of a major aggrecanase, ADAMTS-5, in susceptibility to osteoarthritis.

Genetics and epigenetics of osteoarthritis.

Genetics of osteoarthritis and potential for drug development.

Genetics of osteoarthritis.

Genetics of osteoarthritis.

Genome editing for human osteoarthritis - a perspective

Genome-wide association scan identifies a prostaglandin-endoperoxide synthase 2 variant involved in risk of knee osteoarthritis

Genome-wide association study of developmental dysplasia of the hip identifies an association with

Germline and somatic mosaicism in achondroplasia.

Identification and analysis of a SMAD3 cis-acting eQTL operating in primary osteoarthritis and in the aneurysms and osteoarthritis syndrome

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis risk

Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia

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

Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.