Division of Hand Surgery and Microsurgery, National Institute of Rehabilitation, Mexico City, Mexico.
Department of Genetics, National Institute of Rehabilitation, Mexico City, Mexico.
Climacteric. 2020 Feb;23(1):65-74. doi: 10.1080/13697137.2019.1627313. Epub 2019 Jun 27.
The aim of this study was to analyze the genetic association of five single nucleotide polymorphisms (SNPs) (rs3020331, rs851982, rs1999805, rs2234693, rs3020404), four SNPs (rs1800012, rs2075555, rs2412298, rs1107946), and two SNPs on the gene (rs9479055, rs4870044) with distal radius fracture (DRF) in a group of postmenopausal Mexican women. A case-control study was conducted. Cases ( = 182) were women above the age of 38 years with low-energy DRF, and controls ( = 201) were women without. Analysis was done through real-time polymerase chain reaction. Frequencies and Hardy-Weinberg equilibrium were calculated. A multivariate analysis including bone mass index, age, menarche, and menopause as covariables was carried out. Finally, haplotype and linkage disequilibrium (LD) analyses were performed. rs1107946 was strongly associated with DRF. Both SNPs showed strong association with DRF. For the gene, four SNPs (rs2234693, 3020404, rs3020331, and rs851982) showed very strong association with DRF. Additionally, the region between the latter two showed strong LD. A strong association of DRF with variants in these genes was found, including haplotypes and a region with strong LD on . The results suggest that these SNPs could be useful to detect the population at risk of presenting DRF among Mexican perimenopausal women.
本研究旨在分析五个单核苷酸多态性（SNP）（rs3020331、rs851982、rs1999805、rs2234693、rs3020404）、四个 SNP（rs1800012、rs2075555、rs2412298、rs1107946）和两个 SNP（rs9479055、rs4870044）与一组绝经后墨西哥女性桡骨远端骨折（DRF）的遗传关联。进行了病例对照研究。病例（n=182）为年龄在 38 岁以上、有低能量 DRF 的女性，对照组（n=201）为无 DRF 的女性。通过实时聚合酶链反应进行分析。计算了频率和 Hardy-Weinberg 平衡。进行了多变量分析，包括骨密度指数、年龄、初潮和绝经作为协变量。最后，进行了单体型和连锁不平衡（LD）分析。rs1107946 与 DRF 密切相关。两个 SNP 均与 DRF 有很强的关联。对于基因，四个 SNP（rs2234693、3020404、rs3020331 和 rs851982）与 DRF 有很强的关联。此外，后两个 SNP 之间的区域显示出很强的 LD。发现 DRF 与这些基因中的变体有很强的关联，包括单体型和具有强 LD 的区域。这些结果表明，这些 SNP 可能有助于检测墨西哥围绝经期女性中出现 DRF 的高危人群。
