RAC-OST-POL研究中绝经后女性基因rs731236（TaqI）多态性与骨密度的关联。

Associations between the Gene rs731236 (TaqI) Polymorphism and Bone Mineral Density in Postmenopausal Women from the RAC-OST-POL.

作者信息

Górczyńska-Kosiorz Sylwia, Tabor Elżbieta, Niemiec Paweł, Pluskiewicz Wojciech, 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, Medyków Street 18, 40-752 Katowice, Poland.

出版信息

Biomedicines. 2024 Apr 20;12(4):917. doi: 10.3390/biomedicines12040917.

DOI:10.3390/biomedicines12040917

PMID:38672272

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11048207/

Abstract

BACKGROUND

Postmenopausal osteoporosis is not only related to hormonal factors but is also associated with environmental and genetic factors. One of the latter is the polymorphism of vitamin D receptor (). The aim of the reported study was to comprehensively analyze the gene polymorphic variants rs731236 (TaqI), rs1544410 (BsmI) and rs7975232 (ApaI) in the Polish population of postmenopausal women.

METHODS

The study group consisted of 611 women after menopause (their median age was 65.82 ± 6.29 years). Each of them underwent bone densitometry (DXA) of the non-dominant femoral neck and total hip with a biochemical analysis of vitamin D3 serum concentration and genotyping of the above-mentioned single nucleotide polymorphisms (SNPs); the obtained results were analyzed in the aspect of waist circumference (WC), body mass index (BMI) and past medical history.

RESULTS

The genotype prevalence rates of all SNPs were compatible with Hardy-Weinberg equilibrium ( > 0.050). Out of the studied polymorphisms, only rs731236 genotype variants affected DXA, with AG heterozygotes showing the worst bone parameters. Neither patient age nor vitamin D3 concentration, BMI, WC or comorbidities was associated with rs731236 genotype.

CONCLUSIONS

Out of the polymorphisms studied, only rs731236 genotypes differed among the DXA results, while the AG heterozygotes were characterized by the lowest median bone mineral density.

摘要

背景

绝经后骨质疏松症不仅与激素因素有关，还与环境和遗传因素相关。后者之一是维生素D受体的多态性。本报告研究的目的是全面分析波兰绝经后女性群体中维生素D受体基因的多态性变体rs731236（TaqI）、rs1544410（BsmI）和rs7975232（ApaI）。

方法

研究组由611名绝经后女性组成（她们的中位年龄为65.82±6.29岁）。她们每个人都接受了非优势侧股骨颈和全髋部的骨密度测定（双能X线吸收法），同时进行了维生素D3血清浓度的生化分析以及上述单核苷酸多态性（SNP）的基因分型；所获得的结果在腰围（WC）、体重指数（BMI）和既往病史方面进行了分析。