A missense single nucleotide polymorphism in the ALDH2 gene, rs671, is associated with hip fracture

Kenichiro Takeshima, Yuji Nishiwaki, Yasunori Suda, Yasuo Niki, Yuiko Sato, Tami Kobayashi, Kana Miyamoto, Hisaya Uchida, Wataru Inokuchi, Takashi Tsuji, Atsushi Funayama, Masaya Nakamura, Morio Matsumoto, Yoshiaki Toyama, Takeshi Miyamoto

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30 Citations (Scopus)


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 (ALDH22), 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.

Original languageEnglish
Article number428
JournalScientific reports
Issue number1
Publication statusPublished - 2017 Dec 1

ASJC Scopus subject areas

  • General


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