绝经后妇女MTHFR基因单核苷酸多态性及其单倍型与骨质疏松易感性的关系  

Association of MTHFR gene single nucleotide polymorphisms and haplotype with osteoporosis risk in postmenopausal women

作　　者：陆莹[1] 吴洁[2] 宁魏青[1] 

机构地区：[1]南京医科大学附属第一医院群体保健科,江苏省210036 [2]南京医科大学附属第一医院妇女保健科,江苏省210036

出　　处：《江苏医药》2015年第4期402-405,共4页Jiangsu Medical Journal

基　　金：江苏省卫生厅面上项目(H200910)

摘　　要：目的研究亚甲基四氢叶酸还原酶(MTHFR)基因单核苷酸多态性及其单倍型与苏州地区绝经后妇女骨质疏松遗传易感性的相关性。方法随机抽取苏州城区261例45-70岁绝经后妇女,进行流行病学调查、基础资料测量及骨密度测定,利用荧光定量PCR技术进行基因分型。结果经调整年龄、体重指数(BMI)、腰臀比(WHR)及产次后,MTHFR基因rs1801133(C→T)的位点变异与骨质疏松成正相关。与rs1801133CC基因型相比,rs1801133TT及CT/TT型可以增加骨质疏松的发生风险[调整OR(95%CI)=2.63(1.20-5.77),2.37(1.16-4.87)]。单倍型分析结果显示,与最常见的单倍型CC相比,含突变等位基因rs1801131A的单倍型AC可以显著降低骨质疏松的患病风险[调整OR(95%CI)=0.60(0.39-0.90)]。结论 MTHFR基因单核苷酸多态性及其单倍型与苏州城区绝经后妇女骨质疏松的发病风险存在明显关联。Objective To investigate the relationship between methylenetetrahydrofolate reductase（MTHFR）gene（rs1801131 A1298 Cand rs1801133C677T）polymorphisms and haplotype and osteoporosis risk in the postmenopausal women of Suzhou urban area.Methods A populationbased case-control study was conducted,which included 261 postmenopausal women aged from 45to70 years enrolled through randomized cluster sampling in the community of Suzhou city.Epidemiology questionnaire regarding to healthy status was performed.Bone mineral density and basic information were measured.The polymorphisms of MTHFR genes were detected using the polymerase chain reaction-restriction fragment length polymorphism（PCR-RFLP）by TaqMan real-time PCR.Results After adjustment for age,BMI,WHR and parity times,the variants of rs1801133（C→ T）were positively correlated with the risk for osteoporosis.Compared with the wild-type homozygote,the variants genotypes of rs1801133 TT and CT/TT were correlated with higher osteoporotic risk,respectively[adjusted OR（95% CI）=2.63（1.20,5.77）and 2.37（1.16-4.87）].All the significances remained after the 1000 permutation test.Haplotype analysis of two SNPs showed that haplotype AC,with variant allele A of rs1801131,could reduce the risk for osteoporosis compared with the most common haplotype CC[OR（95% CI）=0.60（0.39-0.90）].Conclusion The MTHFR polymorphisms and haplotype may contribute to the susceptibility of osteoporosis in postmenopausal women.

关 键 词：骨质疏松 亚甲基四氢叶酸还原酶 单核苷酸多态性 

分 类 号：R580[医药卫生—内分泌]