Laboratorio de Genómica del Metabolismo Óseo, Instituto Nacional de Medicina Genómica (INMEGEN), Mexico City 14610, Mexico.
Centro de Investigación en Políticas, Población y Salud de la Facultad de Medicina, Universidad Nacional Autónoma de Mexico (UNAM), Mexico City 04510, Mexico.
Genes (Basel). 2020 Oct 14;11(10):1192. doi: 10.3390/genes11101192.
The Mexican population has one of the highest prevalences of metabolic syndrome (MetS) worldwide. The aim of this study was to investigate the association of single-nucleotide polymorphisms (SNPs) with MetS and its components. First, we performed a pilot Genome-wide association study (GWAS) scan on a sub-sample derived from the Health Workers Cohort Study (HWCS) ( = 411). Based on GWAS results, we selected the rs1784042 and rs17120425 SNPs in the SIDT1 transmembrane family member 2 () gene for replication in the entire cohort ( = 1963), using predesigned TaqMan assays. We observed a prevalence of MetS in the HWCS of 52.6%. The minor allele frequency for the variant rs17120425 was 10% and 29% for the rs1784042. The SNP rs1784042 showed an overall association with MetS (OR = 0.82, = 0.01) and with low levels of high-density lipoprotein (HDL-c) (odds ratio (OR) = 0.77, = 0.001). The SNP rs17120425 had a significant association with type 2 diabetes (T2D) risk in the overall population (OR = 1.39, = 0.033). Our results suggest an association of the rs1784042 and rs17120425 variants with MetS, through different mechanisms in the Mexican population. Further studies in larger samples and other populations are required to validate these findings and the relevance of these SNPs in MetS.
墨西哥人口的代谢综合征（MetS）患病率居世界前列。本研究旨在探讨单核苷酸多态性（SNPs）与 MetS 及其组分的关系。首先，我们在健康工作者队列研究（HWCS）的一个子样本中进行了全基因组关联研究（GWAS）扫描（=411）。基于 GWAS 结果，我们选择了 SIDT1 跨膜家族成员 2 基因中的 rs1784042 和 rs17120425 作为全队列的复制（=1963），使用预先设计的 TaqMan 检测。我们观察到 HWCS 中 MetS 的患病率为 52.6%。变体 rs17120425 的次要等位基因频率为 10%，rs1784042 的次要等位基因频率为 29%。SNP rs1784042 与 MetS 总体相关（OR=0.82，=0.01），与高密度脂蛋白（HDL-c）水平较低相关（比值比（OR）=0.77，=0.001）。SNP rs17120425 与总体人群 2 型糖尿病（T2D）风险具有显著相关性（OR=1.39，=0.033）。我们的结果表明，rs1784042 和 rs17120425 变体与墨西哥人群的 MetS 相关，通过不同的机制。需要在更大的样本和其他人群中进行进一步的研究，以验证这些发现和这些 SNP 在 MetS 中的相关性。
