重庆老年汉族人群klotho G-395A、F352V与C370S基因多态性与原发性骨质疏松症的相关性研究  

Association of single nucleotide polymorphisms of klotho G-395A,F352V and C370S with primary osteoporosis in elderly people of Chinese Han nationality population in Chongqing

作　　者：田小春[1] 马厚勋[1] 刘晓林[1] 周平[1] 吴平[1] 金炯娜[1] 

机构地区：[1]重庆医科大学附属第一医院老年病科,重庆400016

出　　处：《重庆医科大学学报》2010年第12期1769-1773,共5页Journal of Chongqing Medical University

基　　金：国家自然科学基金资助项目(编号:30672212);重庆医科大学创新基金资助项目(编号:CX0507)

摘　　要：目的:探讨重庆地区汉族老年人群klotho G-395A、F352V与C370S3个位点的单核苷酸多态性(Single nucleotide polymorphism,SNP)与原发性骨质疏松症的相关性。方法:应用嵌套式等位基因特异性引物PCR技术测定重庆地区汉族老年人群300例原发性骨质疏松症患者和93例对照者klotho G-395A、F352V、C370S SNP,比较两组基因型和等位基因分布频率。结果:在klotho G-395A SNP中,原发性骨质疏松症组患者AA等位基因型频率较对照组高,有显著性差异(P<0.01),按性别分层研究则仅男性原发性骨质疏松症患者AA等位基因型频率较对照组高,有显著性差异(P<0.01);在klotho F352V SNP中,无论男性还是女性原发性骨质疏松症患者FF、FV与VV各等位基因型频率与对照组均无显著性差异(P>0.05);在klotho C370SSNP中,无论男性还是女性原发性骨质疏松症患者其CC、CS与SS各等位基因型频率与对照组比较均无显著性差异(P>0.05)。结论:klotho G-395A SNP与原发性骨质疏松症有相关性,并存在着性别差异性;而尚未发现klotho F352V与C370S SNP与原发性骨质疏松症有相关性。Objective：To study the association between primary osteoporosis and single nucleotide polymorphisms（SNP） at three sites of klotho gene of G-395A,F352V and C370S in elderly people of Han nationality in Chongqing.Methods：The G-395A,F352V and C370S single nucleotide polymorphism of klotho gene were tested by nested allele-specific primer（NASP） PCR in 300 patients with primary osteoporosis and 93 healthy elderly people of Han nationality in Chongqing.The distribution frequency of genotypes and alleles was compared between the two groups as well as between the gender and age groups.Results：The frequency of AA allelic genotypes of klotho G-395A in the osteoporosis group was significantly higher than that of the control group（P0.01）.According to gender stratification analysis,only the distribution frequency of AA allelic genotypes of klotho G-395A in male osteoporosis group was significantly higher than that of the male control group（P0.01）.There was no significant difference in the frequency of FF,FV or VV allelic genotypes of klotho F352V either in the male or female group between the osteoporosis group and the control group（P0.05）.There was no significant difference in the frequency of CC,CS or SS allelic genotypes of klotho C370S either in male or female group between the osteoporosis group and the control group（P0.05）.Conclusion：The G-395A SNP of klotho gene is associated with primary osteoporosis,which has sex difference between the two groups.No association of SNPs of the F352V and C370S of klotho gene with primary osteoporosis has been found.

关 键 词：KLOTHO基因 单核苷酸多态性 原发性骨质疏松症 老年人 

分 类 号：R681.5[医药卫生—骨科学]