Departamento de Salud Pública, Instituto Regional de Investigación en Salud Pública, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, México.
Departamento de Epidemiologia, Unidad de Medicina Familiar N°, 4, Instituto Mexicano del Seguro Social (IMSS), Guadalajara, México.
Genet Test Mol Biomarkers. 2021 Mar;25(3):211-217. doi: 10.1089/gtmb.2020.0199.
The Wnt/β catenin pathway promotes bone mineralization stimulating proliferation, differentiation, and survival of osteoblasts; it also inhibits osteoclast differentiation and osteocyte activity. Sclerostin (SOST) and Dickkopf 1 (DKK1) are Wnt/β catenin pathway inhibitors. Genetic variability in the expression of SOST and DKK1 might be involved in the development of postmenopausal osteoporosis (OP). To determine whether the SOST rs851056 and DKK1 rs1569198 polymorphisms are associated with OP in Mexican-Mestizo postmenopausal women. Two hundred and eighty Mexican-Mestizo postmenopausal women were assessed for their bone mineral density by dual-energy X-ray absorptiometry (DXA). Patients were classified as OP or non-OP. Genomic DNA was extracted from peripheral blood leukocytes. Genetic polymorphisms were analyzed by quantitative polymerase chain reaction using TaqMan probes. The frequency of OP was 40% among the study population. Osteoporotic patients were older ( < 0.001), had a higher frequency of smoking ( = 0.01), and lower body mass index ( < 0.001) compared with the non-osteoporotic patients. The genotypic frequencies of the rs851056 locus of the gene were GG 19%, GC 45%, and CC 35%, whereas the genotypic frequencies of the rs1569198 locus of the gene were GG 15%, GA 40%, and AA 44%. In relation to rs851056 locus of the gene, no differences were observed between the OP and non-OP cohorts in the frequencies of the GC polymorphism (48.7% vs. 43.1%). Similarly, analyses of the DKK1 rs1569198 does not demonstrate differences in the GA genotypic frequencies between the OP and non-OP cohorts (42.5% vs. 38.9%). Polymorphisms SOST rs851056 and DKK1 rs1569198 polymorphisms are not associated with OP in Mexican-Mestizo postmenopausal women.
Wnt/β 连环蛋白通路促进骨矿化,刺激成骨细胞的增殖、分化和存活;它还抑制破骨细胞分化和骨细胞活性。骨硬化蛋白 (SOST) 和 Dickkopf 1 (DKK1) 是 Wnt/β 连环蛋白通路的抑制剂。SOST 和 DKK1 表达的遗传变异可能参与绝经后骨质疏松症 (OP) 的发展。为了确定 SOST rs851056 和 DKK1 rs1569198 多态性是否与墨西哥裔绝经后妇女的 OP 相关。对 280 名墨西哥裔绝经后妇女进行双能 X 射线吸收法 (DXA) 骨密度评估。患者分为 OP 或非 OP 组。从外周血白细胞中提取基因组 DNA。采用 TaqMan 探针的实时定量聚合酶链反应分析遗传多态性。研究人群中 OP 的发生率为 40%。与非骨质疏松症患者相比,骨质疏松症患者年龄较大(<0.001),吸烟频率较高(=0.01),体重指数较低(<0.001)。基因的 rs851056 位点的基因型频率为 GG 19%、GC 45%和 CC 35%,而基因的 rs1569198 位点的基因型频率为 GG 15%、GA 40%和 AA 44%。关于基因的 rs851056 位点,OP 和非 OP 队列之间 CC 多态性的频率没有差异(48.7%比 43.1%)。同样,DKK1 rs1569198 的分析也表明,OP 和非 OP 队列之间 GA 基因型频率没有差异(42.5%比 38.9%)。SOST rs851056 和 DKK1 rs1569198 多态性与墨西哥裔绝经后妇女的 OP 无关。