Biochemistry Department, College of Science, King Saud University, Riyadh 11451, Saudi Arabia.
Sharjah Institute of Medical Research, University of Sharjah, Sharjah 27272, UAE.
Genes (Basel). 2021 Jan 29;12(2):200. doi: 10.3390/genes12020200.
Receptor activator of the nuclear factor-κB ligand (RANKL) and osteoprotegerin genes (OPG) were identified as susceptible loci for postmenopausal osteoporosis (PMO) in various ethnicities, but neither have been studied in an Arabian population. Hence, the current study aimed to fill this gap. A total of 372 postmenopausal women (174 osteoporosis (OP) and 198 control group (CTRs)) were genotyped for four SNPs: rs2277438A/G and rs9533156T/C (), and rs2073618C/G and rs3102735T/C (). Anthropometrics, bone mineral density, 25(OH)D and several other bone markers were measured. The frequency distribution of the heterozygous CG genotype of rs2073618 () was lower in the OP (36.8%) than in CTRs (47%) (OR: 0.6, 95% CI: 0.3-0.97; = 0.041). No differences in the allelic/genotypic frequencies were detected between the two groups for all other studied SNPs. However, the heterozygous TC genotype of rs3102735 () was associated significantly with lower BMD at the femoral neck in OP subjects ( = 0.04). The homozygous rare CC genotype of rs9533156 () was associated with lower 25(OH)D levels in CTRs ( = 0.032). In contrast, heterozygous AG genotype of rs2277438 () is associated with lower 25(OH)D in the OP group ( = 0.02). Our results suggest that SNPs may impact 25(OH)D levels and that SNP rs2073618A/G is a significant genetic risk factor for PMO Saudi Arabian women.
核因子-κB 受体激活剂配体 (RANKL) 和骨保护素基因 (OPG) 已被确定为不同种族绝经后骨质疏松症 (PMO) 的易感基因，但尚未在阿拉伯人群中进行研究。因此，本研究旨在填补这一空白。对 372 名绝经后妇女（174 例骨质疏松症 (OP) 和 198 例对照组 (CTRs)）进行了四个 SNP 的基因分型：rs2277438A/G 和 rs9533156T/C ()，以及 rs2073618C/G 和 rs3102735T/C (). 测量了人体测量学、骨矿物质密度、25(OH)D 和其他几种骨标志物。OP 组 rs2073618 的杂合 CG 基因型 () 的频率分布（36.8%）低于 CTRs（47%）（OR：0.6，95%CI：0.3-0.97； = 0.041）。在两组之间，所有其他研究的 SNP 的等位基因/基因型频率均无差异。然而，rs3102735 的杂合 TC 基因型 () 与 OP 受试者股骨颈的较低 BMD 显著相关（ = 0.04）。rs9533156 的纯合罕见 CC 基因型 () 与 CTRs 中较低的 25(OH)D 水平相关（ = 0.032）。相反，rs2277438 的杂合 AG 基因型 () 与 OP 组中的较低 25(OH)D 相关（ = 0.02）。我们的结果表明，某些 SNP 可能会影响 25(OH)D 水平，并且 SNP rs2073618A/G 是沙特阿拉伯绝经后妇女 PMO 的重要遗传危险因素。
