Lara-Riegos J C, Ortiz-López M G, Peña-Espinoza B I, Montúfar-Robles I, Peña-Rico M A, Sánchez-Pozos K, Granados-Silvestre M A, Menjivar M
Unidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química Universidad Nacional Autónoma de México - Instituto Nacional de Medicina Genómica, Mexico.
Laboratory of Molecular Endocrinology, Hospital Juárez de México, Mexico.
Gene. 2015 Jul 1;565(1):68-75. doi: 10.1016/j.gene.2015.03.065. Epub 2015 Mar 31.
Association of type 2 diabetes (T2D) with common variants in HHEX, HNF4α, KCNJ11, PPARγ, CDKN2A/2B, SLC30A8, CDC123/CAMK1D, TCF7L2, ABCA1 and SLC16A11 genes have been reported, mainly in populations of European and Asian ancestry and to a lesser extent in Latin Americans. Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ11), rs1801282 (PPARγ), rs10811661 (CDKN2A/2B), rs13266634 (SLC30A8), rs12779790 (CDC123/CAMK1D), rs7903146 (TCF7L2), rs9282541 (ABCA1) and rs13342692 (SLC16A11) polymorphisms in the genetic background of Maya population to associate their susceptibility to develop T2D. This is one of the first studies designed specifically to investigate the inherited component of T2D in the indigenous population of Mexico. SNPs were genotyped by allelic discrimination method in 575 unrelated Maya individuals. Two SNPs rs10811661 and rs928254 were significantly associated with T2D after adjusting for BMI; rs10811661 in a recessive and rs9282541 in a dominant model. Additionally, we found phenotypical alterations associated with genetic variants: HDL to rs9282541 and insulin to rs13342692. In conclusion, these findings support an association of genetic polymorphisms to develop T2D in Maya population.
2型糖尿病（T2D）与HHEX、HNF4α、KCNJ11、PPARγ、CDKN2A/2B、SLC30A8、CDC123/CAMK1D、TCF7L2、ABCA1和SLC16A11基因的常见变异之间的关联已有报道，主要见于欧洲和亚洲血统人群，在拉丁美洲人群中的报道较少。因此，我们旨在研究rs1111875（HHEX）、rs1800961（HNF4α）、rs5219（KCNJ11）、rs1801282（PPARγ）、rs10811661（CDKN2A/2B）、rs13266634（SLC30A8）、rs12779790（CDC123/CAMK1D）、rs7903146（TCF7L2）、rs9282541（ABCA1）和rs13342692（SLC16A11）多态性在玛雅人群遗传背景中对其患T2D易感性的影响。这是首批专门设计用于研究墨西哥本土人群T2D遗传成分的研究之一。通过等位基因鉴别法对575名无亲缘关系的玛雅个体进行了单核苷酸多态性（SNP）基因分型。校正体重指数（BMI）后，两个SNP，即rs10811661和rs928254与T2D显著相关；rs10811661呈隐性模型，rs9282541呈显性模型。此外，我们发现了与基因变异相关的表型改变：HDL与rs9282541相关，胰岛素与rs13342692相关。总之，这些发现支持基因多态性与玛雅人群患T2D之间存在关联。
