ArticleBMC medical genetics2014
Allelic expression analysis of the osteoarthritis susceptibility locus that maps to chromosome 3p21 reveals cis-acting eQTLs at GNL3 and SPCS1.
Article in BMC medical genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 43 citations in OpenAlex.
- Integrative genomics establishes GNL3 as a pleiotropic hub and causal gene for osteoarthritis.Human genomics · 2026Article
- Response splicing quantitative trait loci in primary human chondrocytes identify putative osteoarthritis risk genes.Nature communications · 2025Article
- Genetic risk of osteoarthritis operates during human skeletogenesis.Human molecular genetics · 2023Article
- Intergenic Interactions ofLife (Basel, Switzerland) · 2023Article
- Article
- Genetics of osteoarthritis.Osteoarthritis and cartilage · 2022Review
- Lymphocyte DNA methylation mediates genetic risk at shared immune-mediated disease loci.The Journal of allergy and clinical immunology · 2020Article
- DNA hypomethylation during MSC chondrogenesis occurs predominantly at enhancer regions.Scientific reports · 2020Article
- Annotating Transcriptional Effects of Genetic Variants in Disease-Relevant Tissue: Transcriptome-Wide Allelic Imbalance in Osteoarthritic Cartilage.Arthritis & rheumatology (Hoboken, N.J.) · 2019Article
- Common variants in the GNL3 contribute to the increasing risk of knee osteoarthritis in Han Chinese population.Scientific reports · 2018Article
- Genetic association of the polymorphisms in apoptosis-related genes with osteoarthritis susceptibility in Chinese Han population.International journal of clinical and experimental pathology · 2018Article
- Genome-wide association and functional studies identify a role for matrix Gla protein in osteoarthritis of the hand.Annals of the rheumatic diseases · 2017Article
- Functional Characterization of the Osteoarthritis Susceptibility Mapping to CHST11-A Bioinformatics and Molecular Study.PloS one · 2016Article
- Methylation quantitative trait locus analysis of osteoarthritis links epigenetics with genetic risk.Human molecular genetics · 2015Article
- Allelome.PRO, a pipeline to define allele-specific genomic features from high-throughput sequencing data.Nucleic acids research · 2015Article
- Expression analysis of the osteoarthritis genetic susceptibility locus mapping to an intron of the MCF2L gene and marked by the polymorphism rs11842874.BMC medical genetics · 2015Article
- 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.Arthritis & rheumatology (Hoboken, N.J.) · 2015Article
- Functional characterisation of the osteoarthritis susceptibility locus at chromosome 6q14.1 marked by the polymorphism rs9350591.BMC medical genetics · 2015Article
- Implementation of Functional Genomics for Bench-to-Bedside Transition in Osteoarthritis.Current rheumatology reports · 2015Review
- The influence of human GSTZ1 gene haplotype variations on GSTZ1 expression.Pharmacogenetics and genomics · 2015Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
backgroundAn osteoarthritis (OA) susceptibility locus has been mapped to chromosome 3p21, to a region of high linkage disequilibrium encompassing twelve genes. Six of these genes are expressed in joint tissues and we therefore assessed whether any of the six were subject to cis-acting regulatory polymorphisms active in these tissues and which could therefore account for the association signal.
methodsWe measured allelic expression using pyrosequencing assays that can distinguish mRNA output from each allele of a transcript single nucleotide polymorphism. We assessed RNA extracted from the cartilage and other joint tissues of OA patients who had undergone elective joint replacement surgery. A two-tailed Mann-Whitney exact test was used to test the significance of any allelic differences.
resultsGNL3 and SPCS1 demonstrated significant allelic expression imbalance (AEI) in OA cartilage (GNL3, mean AEI = 1.04, p = 0.0002; SPCS1, mean AEI = 1.07, p < 0.0001). Similar results were observed in other tissues. Expression of the OA-associated allele was lower than that of the non-associated allele for both genes.
conclusionscis-acting regulatory polymorphisms acting on GNL3 and SPCS1 contribute to the OA association signal at chromosome 3p21, and these genes therefore merit further investigation.
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