ArticleBMC musculoskeletal disorders2013
Allelic expression analysis of the osteoarthritis susceptibility gene COL11A1 in human joint tissues.
Article in BMC musculoskeletal disorders, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 2 of them syntheses that pooled it.
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Who cites it
19 citing papers in PubMed, 2 syntheses or guidelines pooled it, 43 citations in OpenAlex.
- Pooled it
- Severe osteoarthritis of the hand associates with common variants within the ALDH1A2 gene and with rare variants at 1p31.Nature genetics · 2014Pooled it
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- The role of the infrapatellar fat pad in osteoporotic knee osteoarthritis: bone-fat crosstalk: cross-sectional studies.Journal of orthopaedic surgery and research · 2025Article
- A cross-sectional study on the assessment of COLL11A1, VEGF, and GDF5 gene polymorphisms in Turkish patients with primary knee osteoarthritis.BMC musculoskeletal disorders · 2025Article
- The Role of Collagen Genetic Variability in Degenerative Disc Disease and Related Conditions.Current genomics · 2025Review
- Article
- Genetically inspired organoids prevent joint degeneration and alleviate chondrocyte senescence via Col11a1-HIF1α-mediated glycolysis-OXPHOS metabolism shift.Clinical and translational medicine · 2024Article
- Tissue-Specific Methylation Biosignatures for Monitoring Diseases: An In Silico Approach.International journal of molecular sciences · 2022Article
- Association between miRNA Target Sites and Incidence of Primary Osteoarthritis in Women from Volga-Ural Region of Russia: A Case-Control Study.Diagnostics (Basel, Switzerland) · 2021Article
- Multifactor dimensionality reduction reveals a strong gene-gene interaction between STC1 and COL11A1 genes as a possible risk factor of knee osteoarthritis.Molecular biology 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
- Gene-gene interactions of the Wnt/β-catenin signaling pathway in knee osteoarthritis.Molecular biology reports · 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
- Screening of gene signatures for rheumatoid arthritis and osteoarthritis based on bioinformatics analysis.Molecular medicine reports · 2016Article
- Implementation of Functional Genomics for Bench-to-Bedside Transition in Osteoarthritis.Current rheumatology reports · 2015Review
- Can We Identify Patients with High Risk of Osteoarthritis Progression Who Will Respond to Treatment? A Focus on Biomarkers and Frailty.Drugs & aging · 2015Review
- A common genetic variant as an effect modifier for primary angle closure glaucoma.International journal of clinical and experimental medicine · 2015Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
backgroundThe single nucleotide polymorphism (SNP) rs2615977 is associated with osteoarthritis (OA) and is located in intron 31 of COL11A1, a strong candidate gene for this degenerative musculoskeletal disease. Furthermore, the common non-synonymous COL11A1 SNP rs1676486 is associated with another degenerative musculoskeletal disease, lumbar disc herniation (LDH). rs1676486 is a C-T transition mediating its affect on LDH susceptibility by modulating COL11A1 expression. The risk T-allele of rs1676486 leads to reduced expression of the COL11A1 transcript, a phenomenon known as allelic expression imbalance (AEI). We were keen therefore to assess whether the effect that rs1676486 has on COL11A1 expression in LDH is also observed in OA and whether the rs2615977 association to OA also marked AEI.
methodsUsing RNA from OA cartilage, we assessed whether either SNP correlated with COL11A1 AEI by 1) measuring COL11A1 expression and stratifying the data by genotype at each SNP; and 2) quantifying the mRNA transcribed from each allele of the two SNPs. We also assessed whether rs1676486 was associated with OA susceptibility using a case-control cohort of over 18,000 individuals.
resultsWe observed significant AEI at rs1676486 (p < 0.0001) with the T-allele correlating with reduced COL11A1 expression. This corresponded with observations in LDH but the SNP was not associated with OA. We did not observe AEI at rs2615977.
conclusionsCOL11A1 is subject to AEI in OA cartilage. AEI at rs1676486 is a risk factor for LDH, but not for OA. These two diseases therefore share a common functional phenotype, namely AEI of COL11A1, but this appears to be a disease risk only in LDH. Other functional effects on COL11A1 presumably account for the OA susceptibility that maps to this gene.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.