González-Peña Sandra Marlen, Campos-Góngora Eduardo, Ávila-Rodríguez Hilda Guadalupe, Ramírez-López Erik, Velázquez-Cruz Rafael, Jiménez-Salas Zacarías
Centro de Investigación en Nutrición y Salud Pública, Universidad Autónoma de Nuevo León, Monterrey, Nuevo León, México.
Biomedica. 2018 Sep 1;38(3):320-328. doi: 10.7705/biomedica.v38i3.4014.
Introduction: Osteoporosis is characterized by a low bone mineral density. Genetic composition is one of the most influential factors in determining bone mineral density (BMD). There are few studies on genes associated with BMD in the Mexican population. Objective: To investigate the association of eight single nucleotide polymorphisms (SNP) of JAG1, MEF2C and BDNF genes with BMD in women of Northern México. Materials and methods: This study involved 124 unrelated Mexican women between 40 and 80 years old. BMD was determined by dual X-ray absorptiometry. Genotyping was performed using allelic discrimination by real time PCR. We analyzed the SNP of JAG1 (rs6514116, rs2273061, rs2235811 and rs6040061), MEF2C (rs1366594, rs12521522 and rs11951031), and BDNF (rs6265) and the data using linear regression. Results: The JAG1 SNP rs2235811 was associated with the BMD of the total body under the dominant inheritance model (p=0,024). Although the other SNPs were not associated with BMD in any of the inheritance models studied, a trend was observed. Conclusion: Our results suggest that the SNP rs2235811 in the JAG1 gene might contribute to the variation in BMD in women from northern México.
骨质疏松症的特征是骨矿物质密度低。基因组成是决定骨矿物质密度（BMD）的最有影响的因素之一。关于墨西哥人群中与BMD相关基因的研究很少。目的：研究JAG1、MEF2C和BDNF基因的8个单核苷酸多态性（SNP）与墨西哥北部女性BMD的关联。材料和方法：本研究纳入了124名年龄在40至80岁之间的无亲缘关系的墨西哥女性。通过双能X线吸收法测定BMD。使用实时PCR等位基因鉴别法进行基因分型。我们分析了JAG1（rs6514116、rs2273061、rs2235811和rs6040061）、MEF2C（rs1366594、rs12521522和rs11951031）以及BDNF（rs6265）的SNP，并使用线性回归分析数据。结果：在显性遗传模型下，JAG1 SNP rs2235811与全身BMD相关（p = 0.024）。尽管在研究的任何遗传模型中其他SNP均与BMD无关，但观察到一种趋势。结论：我们的结果表明，JAG1基因中的SNP rs2235811可能导致墨西哥北部女性BMD的差异。
