The RANKL/RANK/OPG pathway regulates bone remodelling and turnover. However, the genetic background of bone mineral density (BMD) and osteopenia in Saudi postmenopausal women is yet to be studied. We studied the genetic polymorphism of RANKL/RANK/OPG with BMD and other associated factors in Saudi postmenopausal osteopenic women. A total of 439 (223 osteopenia and 216 control) postmenopausal women were recruited from the orthopaedic department of the King Khalid University Hospital, Riyadh, KSA. Genetic variants of RANK (rs1805034 and rs35211496), RANKL (rs2277438 and rs9533156), and OPG (rs2073618 and rs3102735) were genotyped using RT-PCR. Anthropometrics, bone mineral density, and other bone markers were measured. The levels of bone turnover markers, PTH, and RANKL were found to be significantly different between control and the osteopenia group. The odds ratio of 2.37 (1.00–5.69) for RANK SNP (rs1805034) indicates that subjects with CC genotype are more vulnerable to developing osteopenia as compared to subjects with TT genotype. Similarly, for RANKL SNP (rs2277438), the significant odds ratio of 20.56 (9.82–43.06) indicates that the subjects with GG genotype are at significantly higher risk of having osteopenia compared with the AA genotype subjects. In addition, G allele in rs2277438 also found to be a risk factor for osteopenia 4.54 (3.18–6.49) compared with A allele. However, none of the OPG genotypes shows association with osteopenia. The association of RANK polymorphisms with osteopenia shows its clinical importance in the diagnosis and prognosis of the bone diseases; here, we suggest that the subjects with RANK and RANKL polymorphisms may develop osteoporosis.

中文翻译：

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RANK 和 RANKL 基因多态性与阿拉伯绝经后妇女骨质减少的关联

RANKL/RANK/OPG 通路调节骨重塑和周转。然而，沙特绝经后妇女的骨矿物质密度 (BMD) 和骨质减少的遗传背景还有待研究。我们研究了沙特绝经后骨质减少女性RANKL/RANK/OPG与 BMD 和其他相关因素的遗传多态性。共有 439 名（223 名骨质减少和 216 名对照）绝经后妇女从沙特阿拉伯利雅得的哈立德国王大学医院骨科招募。RANK（rs1805034 和 rs35211496）、RANKL（rs2277438 和 rs9533156）和OPG 的遗传变异(rs2073618 和 rs3102735) 使用 RT-PCR 进行基因分型。测量了人体测量学、骨矿物质密度和其他骨标志物。发现骨转换标志物、PTH 和 RANKL 的水平在对照组和骨质减少组之间显着不同。RANK SNP (rs1805034)的优势比为 2.37 (1.00–5.69)，表明与 TT 基因型的受试者相比，CC 基因型的受试者更容易发生骨质减少。类似地，对于RANKLSNP (rs2277438)，20.56 (9.82–43.06) 的显着优势比表明，​​与 AA 基因型受试者相比，GG 基因型受试者患骨质减少的风险显着更高。此外，与 A 等位基因相比，rs2277438 中的 G 等位基因也被发现是骨质减少 4.54 (3.18–6.49) 的危险因素。然而，没有一种 OPG 基因型与骨质减少有关。RANK多态性与骨质减少的关联表明其在骨病诊断和预后中的临床重要性；在这里，我们建议具有RANK和RANKL多态性的受试者可能会发展为骨质疏松症。