Laboratorio de Biología de la Reproducción, Centro de Investigaciones Regionales 'Dr. Hideyo Noguchi', Mérida Yucatán, México.
Sección de Estudios de Posgrado e Investigación, Escuela Superior de Medicina, Instituto Politécnico Nacional, Ciudad de México, México.
Climacteric. 2022 Dec;25(6):603-608. doi: 10.1080/13697137.2022.2097866. Epub 2022 Jul 22.
This study aimed to analyze the association between rs3480 and rs16835198 of and their haplotypes with variations in bone mineral density (BMD) and osteopenia/osteoporosis in postmenopausal Mayan-Mestizo women.
We studied 547 postmenopausal women of Maya-Mestizo origin. BMD was measured in the lumbar spine and total hip by dual-energy X-ray absorptiometry. DNA was obtained from blood leukocytes. rs3480 and rs16835198 of were studied using real-time PCR allelic discrimination. Differences between the means of BMD according to genotype were analyzed with covariance. Allele frequency differences were assessed by and logistic regression was used to test for associations. Pairwise linkage disequilibrium between polymorphisms was calculated by direct correlation , and haplotype analysis was conducted.
Under a recessive model, we observed a significant association of rs3480 with the presence of osteopenia at the total hip and femoral neck ( = 0.008 and = 0.003, respectively). For rs16835198, we found an association with osteopenia at the total hip and femoral neck in a dominant model ( = 0.043 and = 0.009, respectively).
We found an association of rs3480 with risk to present osteopenia at the total hip and femoral neck, while rs16835198 was associated as a protector for presence of osteopenia only at the femoral neck.
本研究旨在分析 基因 rs3480 和 rs16835198 及其单倍型与绝经后玛雅-梅斯蒂索女性骨密度（BMD）和骨质疏松/低骨量变化的相关性。
我们研究了 547 名绝经后玛雅-梅斯蒂索女性。通过双能 X 射线吸收法测量腰椎和全髋的 BMD。从白细胞中提取 DNA。使用实时 PCR 等位基因鉴别法研究 基因 rs3480 和 rs16835198。采用协方差分析基因型与 BMD 均值之间的差异。采用 χ²检验和 logistic 回归检验评估等位基因频率差异。通过直接相关计算多态性之间的连锁不平衡，并进行单倍型分析。
在隐性模型下，我们观察到 rs3480 与全髋和股骨颈骨质疏松的存在存在显著相关性（=0.008 和 =0.003）。对于 rs16835198，我们发现其在显性模型下与全髋和股骨颈骨质疏松的存在存在相关性（=0.043 和 =0.009）。
我们发现 rs3480 与全髋和股骨颈骨质疏松的发生风险相关，而 rs16835198 仅与股骨颈骨质疏松的发生相关。
