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遗传和非遗传因素对中国女性骨密度和骨质疏松性骨折的影响。

The influence of the genetic and non-genetic factors on bone mineral density and osteoporotic fractures in Chinese women.

机构信息

Department of Endocrine and Metabolic Diseases, Rui-jin Hospital, Shanghai Jiao-tong University School of Medicine, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai, 200025, People's Republic of China.

出版信息

Endocrine. 2013 Feb;43(1):127-35. doi: 10.1007/s12020-012-9726-8. Epub 2012 Jul 14.

DOI:10.1007/s12020-012-9726-8
PMID:22798246
Abstract

To investigate the effects of genetic and non-genetic factors on bone mineral densities (BMDs) and osteoporotic fractures. This was a cross-sectional study to investigate the relationships between 18 SNPs and non-genetic factors with BMDs and osteoporotic fractures in 1012 Chinese Han women. Five SNPs in genes GPR177, CTNNB1, MEF2C, SOX6, and TNFRSF11B were associated with L1-4 or total hip BMDs. rs11898505 in SPTBN1 gene was associated with osteoporotic fractures. Subjects carrying the largest number of risk alleles (highest 10 %) not only had lower BMD values as compared to those carrying the least number of risk alleles (lowest 10 %), they also had a higher risk of fracture [P = 0.002, OR = 2.252, 95 %CI (1.136, 4.463)]. Results from multivariate stepwise regression analysis revealed that age [P < 0.001, OR = 1.038, 95 % CI (1.018, 1.058)], number of falls in a year [P < 0.001, OR = 2.347, 95 % CI (1.459, 3.774)], the G risk allele in rs11898505 [P = 0.023, OR = 1.559, 95 % CI (1.062, 2.290)], and the L1-4 BMD [P = 0.017, OR = 0.286, 95 % CI (0.102, 0.798)] were associated with the occurrence of osteoporotic fractures. Genetic (rs11898505) and non-genetic factors (age, number of falls in a year and L1-4 BMD) could work in concert to contribute to the risk of osteoporotic fractures.

摘要

为了研究遗传和非遗传因素对骨密度(BMD)和骨质疏松性骨折的影响。这是一项横断面研究,旨在调查 1012 名汉族女性中 18 个 SNP 与非遗传因素与 L1-4 或全髋 BMD 以及骨质疏松性骨折之间的关系。基因 GPR177、CTNNB1、MEF2C、SOX6 和 TNFRSF11B 中的 5 个 SNP 与 L1-4 或全髋 BMD 相关。SPTBN1 基因中的 rs11898505 与骨质疏松性骨折相关。携带最多风险等位基因(最高 10%)的受试者不仅 BMD 值低于携带最少风险等位基因(最低 10%)的受试者,而且骨折风险更高[P = 0.002,OR = 2.252,95%CI(1.136,4.463)]。多元逐步回归分析结果显示,年龄[P < 0.001,OR = 1.038,95%CI(1.018,1.058)]、每年跌倒次数[P < 0.001,OR = 2.347,95%CI(1.459,3.774)]、rs11898505 中的 G 风险等位基因[P = 0.023,OR = 1.559,95%CI(1.062,2.290)]和 L1-4 BMD[P = 0.017,OR = 0.286,95%CI(0.102,0.798)]与骨质疏松性骨折的发生相关。遗传(rs11898505)和非遗传因素(年龄、每年跌倒次数和 L1-4 BMD)可能协同作用,导致骨质疏松性骨折的风险增加。

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