Association of COL9A2 gene polymorphism with degenerative disc disease of lumbar in Chinese Han population

Abstract

Objective To investigate the association between COL9A2 gene polymorphism with lumbar degenerative disc disease (DDD) in Chinese Han population. Methods A total of 125 DDD patients (58 males and 67 femals, aged 51.8 + 10. 6), and 126 controls matched in sex and age (64 males,62 femals, aged 45.7 + 8. 2) were recruited in the case-control study. Peripheral blood was collected for DNA isolation. Results Based on NCBI Genebank, corresponding single nucleotide polymorphisms-SNP1 ( rs12722877), SNP2 ( rs3737820), SNP3 (rs209914) and SNP4 (rs6676013) were identified. Hardy-Weinberg equilibrium was analyzed in both case and control groups. Genotying of all selected SNPs was done by SNPstream technology. The association analysis between phenotyepes and SNPs was conducted.Reslults NPI (rs12722877), SNP2 (rs3737820), SNP3 (rs209914) and SNP4 (rs6676013) were genttyped, and the polymorphisms distributed in line with Hardy-Weinberg equilibrium in case and contral groups. There was no significant difference in allele frequency of SNP1C, SNPIG, SNP2A, SNP2T,SNP3A, SNP3C, SNP4C and SNP4T between case group (91%, 93%, 86%, 89%, 95%, 94%, 12%,and 10%, respectively) and control group (9%, 7%, 14%, 11%, 5%, 6%, 88%, and 90% respectively). No significant difference in genotype frequencies of SNP was found between case group and control group, too (all P＞0.05). Conclusion COL9A2 gene may not be associated with lumbar DDD in ChineseHan population. Key words: Lumbar; Degenerative disc disease; Gene polymorphism