2013
DOI: 10.1186/1471-2474-14-85
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Allelic expression analysis of the osteoarthritis susceptibility gene COL11A1 in human joint tissues

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 r… Show more

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Cited by 35 publications
(27 citation statements)
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“…The first was the abovementioned SNP rs9659030 with meta‐ φ AI of 0.65 ( P = 1.2 × 10 −25 ) and the second was SNP rs2229783 with meta‐ φ AI of 0.53 ( P = 3.7 × 10 −8 ). Notably, and in contrast to the results obtained by Raine et al , the extent and consistency of AI for rs9659030 were considerably higher than those for rs2229783 and rs1676486. The suggestive evidence of AI of the lumbar disc herniation risk allele of SNP rs1676486 as well as the AI of its proxy SNP rs2229783 (D′ = 1, r 2 = 0.3) confirm that the lumbar disc herniation risk allele is likely associated with lower COL11A1 expression.…”
Section: Discussioncontrasting
confidence: 93%
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“…The first was the abovementioned SNP rs9659030 with meta‐ φ AI of 0.65 ( P = 1.2 × 10 −25 ) and the second was SNP rs2229783 with meta‐ φ AI of 0.53 ( P = 3.7 × 10 −8 ). Notably, and in contrast to the results obtained by Raine et al , the extent and consistency of AI for rs9659030 were considerably higher than those for rs2229783 and rs1676486. The suggestive evidence of AI of the lumbar disc herniation risk allele of SNP rs1676486 as well as the AI of its proxy SNP rs2229783 (D′ = 1, r 2 = 0.3) confirm that the lumbar disc herniation risk allele is likely associated with lower COL11A1 expression.…”
Section: Discussioncontrasting
confidence: 93%
“…Herein, we highlight notable examples. Among our (highly) significant AI SNPs we confirmed well‐known genes that have previously been reported by others to confer robust risk of OA (e.g., MGP , ALDH1A2 , IGFBP3 , and FRZB ) . We hypothesize that among our (highly) significant AI SNPs and particularly those that show additional, differential expression between preserved and lesioned OA cartilage (e.g., CRLF1 [Figure ; also see Supplementary Table 6, http://onlinelibrary.wiley.com/doi/10.1002/art.40748/abstract]) or genetic association with OA phenotypes (e.g., WWP2 and RPS3 [Figure and Table ; also see Supplementary Tables 7 and 8, http://onlinelibrary.wiley.com/doi/10.1002/art.40748/abstract]) are putative novel compelling OA risk genes.…”
Section: Discussionsupporting
confidence: 83%
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“…Such as COL11A1, VEGF, GDF5 and IL8 gene polymorphisms in different population studies are described as risk factors. However OA linked genetic polymorphism studies don't make a consensus, researchers concentrate on different gene studies [18][19][20][21][22] . One of these genes is FOXP3.…”
Section: Resultsmentioning
confidence: 99%