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特定基因多态性对绝经后女性骨密度及代谢性疾病风险的影响

The Impact of Selected and Gene Polymorphisms on Bone Mineral Density and the Risk of Metabolic Diseases in Postmenopausal Women.

作者信息

Cichocka Edyta, Górczyńska-Kosiorz Sylwia Barbara, Niemiec Paweł, Trautsolt Wanda, Gumprecht Janusz

机构信息

Department of Internal Medicine, Diabetology and Nephrology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia, 40-055 Katowice, Poland.

Department of Biochemistry and Medical Genetics, School of Health Sciences in Katowice, Medical University of Silesia, Medykow Street 18, 40-752 Katowice, Poland.

出版信息

Int J Mol Sci. 2025 May 22;26(11):4981. doi: 10.3390/ijms26114981.

Abstract

Genetic variations in the and genes have been linked to bone mineral density (BMD) and metabolic disorders. This study analyzed the associations of (rs1107946, rs1800012) and (rs42524) polymorphisms with BMD, obesity, and type 2 diabetes (T2D) in 554 postmenopausal women. Dual-energy X-ray absorptiometry assessed BMD, and genotyping was performed alongside an evaluation of metabolic and lifestyle factors. The rs1107946 AA genotype was associated with higher femoral neck BMD ( < 0.05), an over 10-fold increased obesity prevalence ( = 0.038), and a 3.5-fold higher T2D risk ( = 0.011)-a novel finding. The rs1800012 polymorphism showed age-dependent BMD effects: A allele carriers had lower femoral neck BMD in the 60-69 age group but higher total hip BMD in the 70-79 age group. Additionally, rs42524 GG homozygotes had a significantly higher incidence of maternal fractures ( < 0.05). These results highlight rs1107946 as a potential marker for both skeletal and metabolic risk, demonstrate the age-specific effects of rs1800012 on BMD, and identify rs42524 as a possible genetic indicator of familial fracture risk. These insights may inform personalized approaches to osteoporosis and metabolic disease prevention.

摘要

和基因的遗传变异与骨矿物质密度(BMD)及代谢紊乱有关。本研究分析了554名绝经后女性中(rs1107946、rs1800012)和(rs42524)多态性与BMD、肥胖及2型糖尿病(T2D)之间的关联。采用双能X线吸收法评估BMD,并在评估代谢和生活方式因素的同时进行基因分型。基因rs1107946的AA基因型与较高的股骨颈BMD相关(<0.05),肥胖患病率增加超过10倍(=0.038),T2D风险高3.5倍(=0.011)——这是一项新发现。rs1800012多态性显示出与年龄相关的BMD效应:A等位基因携带者在60 - 69岁年龄组中股骨颈BMD较低,但在70 - 79岁年龄组中全髋BMD较高。此外,基因rs42524的GG纯合子产妇骨折发生率显著更高(<0.05)。这些结果突出了rs1107946作为骨骼和代谢风险的潜在标志物,证明了rs1800012对BMD的年龄特异性影响,并确定rs42524为家族性骨折风险的可能遗传指标。这些见解可能为骨质疏松症和代谢疾病的个性化预防方法提供依据。

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