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骨质疏松性骨折是老年人群残疾和间接死亡的最主要原因。以前的研究显示,同型半胱氨酸水平和编码亚甲基四氢叶酸还原酶(MTHFR)的基因C677T多态性可能涉及欧洲人群骨质疏松的形成及其相关骨折。本研究的目的是确证1899名中国绝经后女性的多态性与骨矿物质密度(BMD)和骨折间的关联。该人群C677T基因的T等位基因是39.2%。MTHFR的基因型分布遵循Hardy-Weinberg平衡定律。T等位基因携带者倾向于患骨质疏松症或骨质减少症的风险较高,但统计学差异不明显。然而,Poisson回归分析揭示,T等位基因携带者绝经前后的骨折风险增加(RR=1.7,95%CI=1.1～2.7,p=0.01)。就绝经后骨折发生率而言,CT或TT基因型是CC基因型风险的2倍以上(RR=2.5,95%CI=1.2～4.9,p=0.009)。该关联独立于年龄、体力活动、职业、被动吸烟、身高、体重、绝经后年限和整个髋部的BMD。我们的资料显示,MTHFRC677T基因多态性是骨折风险的独立预测因子,尽管其对BMD仅有微弱的作用。进一步对该基因多态性在骨折形成中所起作用的机制研究可以使我们更好地了解骨质疏松性骨折的病因学。
Osteoporotic fractures are the leading cause of disability and indirect death in the elderly population. Previous studies have shown that homocysteine levels and the C677T polymorphism of the gene encoding methylenetetrahydrofolate reductase (MTHFR) may be involved in the formation of osteoporosis and its associated fractures in European populations. The purpose of this study was to confirm the association of 1899 postmenopausal women with bone mineral density (BMD) and fractures in China. The population of C677T gene T allele was 39.2%. The genotype distribution of MTHFR follows the Hardy-Weinberg equilibrium law. T allele carriers tended to have a higher risk of osteoporosis or osteopenia, but the difference was not statistically significant. However, Poisson regression analysis revealed an increased risk of fracture in pre-menopausal and post-menopausal T allele carriers (RR = 1.7, 95% CI = 1.1-2.7, p = 0.01). In terms of the incidence of postmenopausal fractures, the CT or TT genotype is more than twice as likely as the CC genotype (RR = 2.5, 95% CI = 1.2 to 4.9, p = 0.009). The association is independent of age, physical activity, occupational, passive smoking, height, weight, postmenopausal age, and overall hip BMD. Our data show that the MTHFRC677T gene polymorphism is an independent predictor of fracture risk despite its weak effect on BMD. Further study of the mechanism of the role of this gene polymorphism in fracture formation can give us a better understanding of the etiology of osteoporotic fractures.