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A genetic variant in COL11A1 is functionally related to lumbar disc herniation in Chinese language inhabitants.

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A genetic variant in COL11A1 is functionally related to lumbar disc herniation in Chinese language inhabitants.

J Genet. 2017 Dec;96(6):867-872

Authors: Liu W, Solar G, Guo L, Wang L, Fan W, Lang M, Chen D, Yi X

Summary
This research aimed to discover whether or not the genetic variant of COL11A1 is functionally related to the event of lumbar disc herniation (LDH) in Chinese language inhabitants. SNP rs1676486 of COL11A1 was genotyped in 647 sufferers and 532 wholesome controls. The variations of genotype and allele distributions between LDH sufferers and wholesome controls had been evaluated utilizing the ?² check. One-way ANOVA check was used to match the connection between genotypes and medical options together with tissue expression of COL11A1 and the diploma of disc degeneration. Sufferers had been discovered to have a considerably larger frequency of TT than the controls (10.2% versus 7.three%, P = zero.004). Moreover, the frequency of allele T was discovered to be remarkably larger within the sufferers than the controls (34.eight% versus 28.1%, P < zero.001) with an odds ratio of 1.36 (95% confidential interval=1.14-1.63). Sufferers with genotype TT had been discovered to have remarkably extra extreme disc degeneration (P = zero.02). Moreover, the expression of COL11A1 within the lumbar disc was considerably decrease within the sufferers with genotype TT than in these with genotype CT or CC (P < zero.001). Furthermore, the expression degree was inversely correlated with the severity of disc degeneration (P < zero.001). We confirmed that the rs1676486 of COL11A could also be functionally related to LDH within the Chinese language inhabitants. Extracellular matrix associated proteins might play an essential position within the pathogenesis of LDH. Our findings make clear a greater understanding of the pathogenesis of LDH, which could possibly be a promising goal for a novel therapy modality of LDH.

PMID: 29321344 [PubMed – in process]

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