Vitamin D receptor (VDR) is known as one of the cellular regulators for several metabolic pathways indicating its pivotal role in the pathological pathway of numerous diseases. Considering the high frequency of osteoporosis and obesity among women, the current study aimed to explore the prospective assembly of the most frequent two VDR loci, single nucleotide polymorphism SNPs rs731236 (TaqI) and rs7975232 (ApaI) with a genetic predisposition to osteoporosis (skeletal) and obesity (chronic non-skeletal disorders), in Egyptian women. This was a cross-sectional study, including 97 Egyptian females (25–65 years), randomly chosen, from all employees and workers of the National Research Centre, Egypt. Anthropometric measurements (weight, height, BMI), dual-energy X-ray absorptiometry (DEXA), and molecular genetic analysis were done. The variation of ApaI genotype between the normal and osteoporotic groups denotes a remarkable association of the homozygote ApaI genotype with osteoporosis risk. Among the normal weight group, bone mineral density (BMD) was significantly associated with TaqI VDR gene polymorphism as the presence of the heterozygote genotype was accompanied with higher BMD while the homozygote one was detected with lower BMD. Also, TaqI VDR gene polymorphism was significantly associated with BMI when participants were divided according to the presence of osteoporosis; increased BMI was expressed in the non-osteoporotic women group carrying the homozygote genotype of Taq I VDR gene while the presence of the heterozygote genotype (TaqI) in the osteoporotic group was associated with increased BMI. The heterozygote TaqI genotype is protective against the osteoporosis phenotype and accompanied with increased BMI among osteoporotic women, while the homozygote ApaI genotype has a significant association with osteoporosis risk.

中文翻译：

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维生素 D 受体在埃及女性样本中对骨质疏松症和肥胖症的叙述作用：一项初步研究

维生素 D 受体 (VDR) 被认为是多种代谢途径的细胞调节剂之一，表明其在多种疾病的病理途径中发挥着关键作用。考虑到女性骨质疏松症和肥胖症的高发率，本研究旨在探索最常见的两个 VDR 基因座、单核苷酸多态性 SNP rs731236 (TaqI) 和 rs7975232 (ApaI) 的前瞻性组装，它们具有骨质疏松症（骨骼）的遗传易感性和肥胖（慢性非骨骼疾病），在埃及妇女中。这是一项横断面研究，包括从埃及国家研究中心的所有员工和工作人员中随机选择的 97 名埃及女性（25-65 岁）。进行了人体测量（体重、身高、BMI）、双能 X 射线吸收测定法 (DEXA) 和分子遗传分析。正常组和骨质疏松组之间 ApaI 基因型的变异表明纯合子 ApaI 基因型与骨质疏松症风险之间存在显着关联。在正常体重组中，骨矿物质密度（BMD）与 TaqI VDR 基因多态性显着相关，因为杂合子基因型的存在伴随着较高的 BMD，而纯合子基因型的 BMD 较低。此外，当参与者根据骨质疏松症的存在进行划分时，TaqI VDR 基因多态性与 BMI 显着相关；携带 Taq I VDR 基因纯合子基因型的非骨质疏松女性组 BMI 增加，而骨质疏松组中杂合子基因型 (TaqI) 的存在与 BMI 增加有关。