{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T18:08:00Z","timestamp":1779386880624,"version":"3.53.1"},"reference-count":18,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2013,3,8]],"date-time":"2013-03-08T00:00:00Z","timestamp":1362700800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Musculoskelet Disord"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The single nucleotide polymorphism (SNP) rs2615977 is associated with osteoarthritis (OA) and is located in intron 31 of<jats:italic>COL11A1<\/jats:italic>, a strong candidate gene for this degenerative musculoskeletal disease. Furthermore, the common non-synonymous<jats:italic>COL11A1<\/jats:italic>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<jats:italic>COL11A1<\/jats:italic>expression. The risk T-allele of rs1676486 leads to reduced expression of the<jats:italic>COL11A1<\/jats:italic>transcript, a phenomenon known as allelic expression imbalance (AEI). We were keen therefore to assess whether the effect that rs1676486 has on<jats:italic>COL11A1<\/jats:italic>expression in LDH is also observed in OA and whether the rs2615977 association to OA also marked AEI.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Using RNA from OA cartilage, we assessed whether either SNP correlated with<jats:italic>COL11A1<\/jats:italic>AEI by 1) measuring<jats:italic>COL11A1<\/jats:italic>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\u2013control cohort of over 18,000 individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We observed significant AEI at rs1676486 (p\u2009&lt;\u20090.0001) with the T-allele correlating with reduced<jats:italic>COL11A1<\/jats:italic>expression. This corresponded with observations in LDH but the SNP was not associated with OA. We did not observe AEI at rs2615977.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p><jats:italic>COL11A1<\/jats:italic>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<jats:italic>COL11A1<\/jats:italic>, but this appears to be a disease risk only in LDH. Other functional effects on<jats:italic>COL11A1<\/jats:italic>presumably account for the OA susceptibility that maps to this gene.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1471-2474-14-85","type":"journal-article","created":{"date-parts":[[2013,3,8]],"date-time":"2013-03-08T05:47:55Z","timestamp":1362721675000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":37,"title":["Allelic expression analysis of the osteoarthritis susceptibility gene COL11A1 in human joint tissues"],"prefix":"10.1186","volume":"14","author":[{"given":"Emma V A","family":"Raine","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew W","family":"Dodd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Louise N","family":"Reynard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Loughlin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2013,3,8]]},"reference":[{"key":"1664_CR1","doi-asserted-by":"publisher","first-page":"531","DOI":"10.1016\/j.rdc.2008.05.011","volume":"34","author":"KD Brandt","year":"2008","unstructured":"Brandt KD, Dieppe P, Radin E: Etiopathogenesis of osteoarthritis. 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