MTHFR基因多态性与苏州地区绝经后妇女骨质疏松易感性的相关性分析

Association of methylenetetrahydrofolate reductase(MTHFR) polymorphism with osteoporosis in Suzhou postmenopausal women

目的:研究苏州地区绝经后妇女骨质疏松症(osteoporosis,OP)发生情况,探讨亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)的两个多态性位点677C>T和1298A>C与苏州地区绝经后妇女骨质疏松遗传易感性的关系。方法:从苏州市城区随机抽取45～70岁的绝经后妇女261例,收集所有研究对象的身高、体重、腰围、臀围等一般资料,用骨定量超声分析仪测定桡骨远端骨密度,利用荧光定量PCR技术(TaqMan)进行基因分型,对骨质疏松组和对照组(骨量减少和骨量正常)的MTHFR 677C>T和和1298A>C两个多态性位点与绝经后骨质疏松易感性的关系进行研究。应用STATA11.0统计软件进行数据的统计分析。结果:261例中,骨质疏松92例(35.25%),骨量减少117例(44.83%),骨量正常52例(19.92%)。骨质疏松组MTHFR 677位点的T等位基因频率(43.48%)比对照组(34.02%)明显增高(P=0.039),MTHFR 677位点的T/T纯合突变型可显著增加绝经后骨质疏松的发病风险(调整OR=2.37;95%CI=1.15～4.87),该作用在年龄≤60岁和中心性肥胖(腰臀比≥0.80)的女性中更为明显。MTHFR 1298A>C的多态性位点对绝经后骨质疏松的发生没有显著影响(P=0.787)。结论:MTHFR 677C>T基因变异与苏州地区绝经后妇女骨质疏松易感性明显相关。

Objective：To investigate the prevalence of the postmenopausal women with osteoporosis in Suzhou urban area and evaluate the relationship between MTHFR gene（677C〉T and 1298A〉C） polymorphisms and the susceptibility to osteoporosis in postmenopausal Suzhou women.Methods：A population-based case-control study was conducted,including 261 postmenopausal women aged from 45 to 70 years enrolled through randomized cluster sampling in the community of Suzhou city.The research subject registered their basic information such as height,weight,waist circumference,hip circumference.Bone mineral density was measured by radius quantitative ultrasound.The polymorphisms of MTHFR genes were detected using the TaqMan real-time polymerase chain reaction（PCR） method.Results：Compared with the control group（34.02%）,the frequency of the MTHFR 677T allele was significantly increased in osteoporosis group（43.48%）,P = 0.039.Concerning the incidence of postmenopausal osteoporosis,the TT genotype had more than twice of the risk of the CC and CT genotype（OR=2.37,95%CI=1.15～4.87）,especially in women aged≤60 years and central obesity（waist to hip ratio≥0.80）.No association was observed between the MTHFR 1298A〉C polymorphism and postmenopausal osteoporosis（P = 0.787）.Conclusion：The MTHFR 677C〉T polymorphism may contribute to the susceptibility of osteoporosis in postmenopausal women in Suzhou city.