Abstract:
Objective?To examine the association of collagen type I α1 (COLIA1) Sp1 polymorphism with intervertebral disc degeneration in Han elderly people. Methods?The objects in this case-control study were the Han elderly people over 65-years-old. There were totally 375 intervertebral disc degeneration patients and 118 healthy controls matched in demographic characteristics recruited.The guanine (G) to thymidine (T) polymorphism in the first intron of COLIA1 gene was detected by PCR. Detected the difference of genotype frequency distribution and allele frequency between case group and the control group. Results?Hardy-Weinberg equilibrium was analyzed in both case and control group.Sp1 site was genotyped,and the polymorphisms distributed in line with Hardy-Weinberg equilibrium either in case or control groups.There was significant difference in genotype frequency of Sp1 between control group and case group. GG: 264(70.4%)/82(69.5%), GT: 102(27.2%)/26(22.0%) and TT: 9(2.4%)/10(8.5%), respectively; (χ2 =9.527,P=0.009). No significant difference in allele frequencies of SNP was found between case group and control group. G: 630(84.0%)/190(80.5%) and T: 120(16.0%)/46(19.5%), respectively. (χ2=1.563,P=0.211). Conclusion?COLIA1 Sp1 polymorphism may be a genetic risk factor related to intervertebral disc degeneration in Han elderly people.