Abstract
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.
Highlights
Osteoporosis is a disease characterized by elevated risk of bone fragility fracture owing to reduced bone strength due to reduced bone mass, reduced bone quality or both[1, 2]
Informed consent was provided by all subjects in the study, and 92 and 48 subjects were enrolled as hip fracture and control subjects, respectively. rs[671] frequency in each group was assessed by direct sequencing
We report that rs[671] is significantly associated with hip fractures even after adjustment for age and body mass index (BMI)
Summary
Osteoporosis is a disease characterized by elevated risk of bone fragility fracture owing to reduced bone strength due to reduced bone mass, reduced bone quality or both[1, 2]. In osteoporotic bone fragility fractures, risk factors other than aging include low bone mineral density, estrogen or androgen deficiency, metabolic or inflammatory disease, prolonged steroid use or reported history of parents’ hip fracture(s). Some of these are utilized as diagnostic criteria to prescribe drugs to prevent bone fragility fractures[4,5,6,7]. We previously reported that ALDH2*2 model mice exhibit significantly reduced bone mass relative to controls without alcohol consumption, Aldh[2] knockout mice show normal bone mass[23]. Our study suggests that ALDH2 rs[671] is a possible risk factor for hip fracture
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