A missense single nucleotide polymorphism in the ALDH2 gene, rs671, is associated with hip fracture.
A missense single nucleotide polymorphism in the ALDH2 gene, rs671, is associated with hip fracture.
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DOI：
10.1038/s41598-017-00503-2
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发表时间：
2017-03-27
影响因子：
4.6
通讯作者：
Miyamoto T
中科院分区：
文献类型：
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作者：
Takeshima K;Nishiwaki Y;Suda Y;Niki Y;Sato Y;Kobayashi T;Miyamoto K;Uchida H;Inokuchi W;Tsuji T;Funayama A;Nakamura M;Matsumoto M;Toyama Y;Miyamoto T
髋部骨折是骨科损伤中最严重的脆性骨折。家族史是骨折的已知危险因素，现在已被纳入骨质疏松症诊断和治疗的标准;然而，家族史中有利于骨折的遗传因素仍有待阐明。在这里，我们证明了ALDH 2基因rs671（ALDH 2 *2）中的错义SNP与髋部骨折显著相关（比值比= 2.48，95%置信区间：1.20-5.10，p = 0.021）。rs671 SNP也与骨质疏松症的发生显著相关（比值比= 2.04，95%置信区间：1.07-3.88，p = 0.040）。为了进行分析，我们招募了92名髋部骨折患者和48名对照受试者，这些受试者没有骨脆性骨折，骨矿物质密度高于-2.5 SD。我们还招募了156名骨质疏松症患者，他们的骨密度低于-2.5 SD，但没有髋部骨折。rs671与髋部骨折和骨质疏松症的相关性即使在调整了年龄和体重指数后也是显著的。我们的研究结果提供了新的见解髋部骨折的发病机制。
Hip fracture is the most severe bone fragility fracture among osteoporotic injuries. Family history is a known risk factor for fracture and now included among criteria for osteoporosis diagnosis and treatment; however, genetic factors underlying family history favoring fracture remain to be elucidated. Here we demonstrate that a missense SNP in the ALDH2 gene, rs671 (ALDH2*2), is significantly associated with hip fracture (odds ratio = 2.48, 95% confidence interval: 1.20–5.10, p = 0.021). The rs671 SNP was also significantly associated with osteoporosis development (odds ratio = 2.04, 95% confidence interval: 1.07–3.88, p = 0.040). For analysis we enrolled 92 hip fracture patients plus 48 control subjects without bone fragility fractures with higher than −2.5 SD bone mineral density. We also recruited 156 osteoporosis patients diagnosed as below −2.5 SD in terms of bone mineral density but without hip fracture. Association of rs671 with hip fracture and osteoporosis was significant even after adjustment for age and body mass index. Our results provide new insight into the pathogenesis of hip fracture.