Magaña J J, Gómez R, Cisneros B, Casas L, Castorena F, Miranda A, Diez P, Castro C, Rubio J, Valdés M
Department of Genetics, National Rehabilitation Institute, Mexico DF, Mexico.
Clin Genet. 2006 Nov;70(5):402-8. doi: 10.1111/j.1399-0004.2006.00703.x.
Calcitonin (CT) plays a role in the pathogenesis of osteoporosis and genetic variations in or adjacent to the CT gene may be associated with loss of bone mineral density (BMD). The correlation between a dinucleotide (cytosine-adenine) repeat polymorphism at the CT locus and BMD was examined in 70 osteoporotic women, 70 non-osteoporotic women and 500 subjects from the Mexican population. The allele A and genotype AA frequencies were significantly higher in osteoporotic women than in non-osteoporotic women (60% vs 32%; p < 0.0001 and 41% vs 14%; p = 0.0007, respectively). Genotype AA was associated with the presence of osteoporosis [odds ratio 2.58; 95% confidence interval (CI); 1.62-4.12]. Likewise, the loss of lumbar BMD and T scores were related to the presence of allele A: subjects with a single A allele displayed lower values for lumbar BMD and T score (84.02% and -1.51, respectively) than those who do not present any A allele (89.61% and -0.88, respectively). Individuals with two alleles A showed the lowest lumbar BMD and T-score values (73.77% and -2.51, respectively). Analysis of potential confounder demonstrated that aging has a significant effect on osteoporosis development (odds ratio 1.1; 95% CI; 1.1052-1.152).
降钙素（CT）在骨质疏松症的发病机制中起作用，CT基因内部或其附近的基因变异可能与骨矿物质密度（BMD）的降低有关。在70名骨质疏松症女性、70名非骨质疏松症女性以及500名墨西哥人群受试者中，研究了CT基因座处的二核苷酸（胞嘧啶 - 腺嘌呤）重复多态性与BMD之间的相关性。骨质疏松症女性的A等位基因和AA基因型频率显著高于非骨质疏松症女性（分别为60% 对32%；p < 0.0001和41% 对14%；p = 0.0007）。AA基因型与骨质疏松症的存在相关[比值比2.58；95%置信区间（CI）；1.62 - 4.12]。同样，腰椎BMD的降低和T值与A等位基因的存在有关：携带单个A等位基因的受试者的腰椎BMD和T值（分别为84.02%和 -1.51）低于那些不携带任何A等位基因的受试者（分别为89.61%和 -0.88）。携带两个A等位基因的个体的腰椎BMD和T值最低（分别为73.77%和 -2.51）。对潜在混杂因素的分析表明，衰老对骨质疏松症的发展有显著影响（比值比1.1；95% CI；1.1052 - 1.152）。
