COLIA1Sp1基因多态性与中国汉族老年性椎间盘退化的相关性研究

目的研究Ⅰ型胶原蛋白α1 （COLIA1）基因 Sp1位点基因多态性与中国汉族老年性椎间盘退化的相关性。方法以65岁以上汉族老年人为研究对象，375例中国汉族椎间盘退变疾病患者 (病例组)与118例中国汉族非椎间盘退变疾病受访者 (对照组)，PCR检测COLIA1基因第一个内含子Sp1位点G→T多态性。检测病例组和对照组间等位基因频率／基因型分布频率的差异。结果对照组和病例组一般人口学特征差异无统计学意义，两组COLIA1基因 Sp1位点的基因型分布均符合Hardy-Weinberg平衡；对照组和病例组中基因型分布频率分别为GG：264 （70.4%）/82 （69.5%）、GT：102 （27.2%）/26 （22.0%）、TT：9 （2.4%）/10 （8.5%），两组差异具有统计学意义（χ2=9.527,P=0.009）；等位基因频率分别为G：630 （84.0%）/190 （80.5%）、T：120 （16.0%）/46 （19.5%）,差异无统计学意义 (χ2=1.563,P=0.211)。结论 COLIA1 Sp1基因多态性可能是中国汉族老年椎间盘退化的遗传危险因素。

英文摘要:

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.

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