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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 study the association of single nucleotide polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene and its haplotype with the genetic susceptibility to osteoporosis in postmenopausal women in Suzhou area. Methods Totally 261 postmenopausal women aged 45-70 years in Suzhou urban area were randomly selected for epidemiological investigation, basic data measurement and bone mineral density measurement. Genotyping was performed by real-time quantitative PCR. Results After adjusting for age, body mass index (BMI), waist-hip ratio (WHR) and parity, the site variation of MTHFR gene rs1801133 (C → T) was positively correlated with osteoporosis. Compared with rs1801133CC genotype, rs1801133TT and CT / TT genotypes may increase the risk of osteoporosis [adjusted OR (95% CI) = 2.63 (1.20-5.77), 2.37 (1.16-4.87)]. Haplotype analysis showed that haplotype AC with mutant allele rs1801131A significantly reduced the prevalence of osteoporosis compared with the most common haplotype CC [adjusted OR (95% CI) = 0.60 ( 0.39-0.90)]. Conclusion Single nucleotide polymorphisms of MTHFR gene and its haplotype are significantly associated with the risk of osteoporosis in postmenopausal women in Suzhou urban area.