Analysis of Polymorphisms in Genes (AGT,MTHFR,GPIIIa, andGSTP1) Associated with Hypertension, Thrombophilia and Oxidative Stress in Mestizo and Amerindian Populations of México

Abstract

Several polymorphisms related to hypertension, thrombophilia, and oxidative stress has been associated with the development of cardiovascular disease. We analyzed the frequency of M235T angiotensinogen (AGT), A222V 5,10 methylenete-trahydrofolate reductase (MTHFR), L33P glycoprotein IIIa (GPIIIa), and I105V glutathione S-transferase P1 (GSTP1) polymorphisms in 285 individuals belonging to Mexican-Mestizo and five Amerindian population from México, by real time PCR allelic discrimination. Allele and genotype frequencies were compared using χ2 tests.All populations followed the Hardy Weinberg equilibrium for assay markers with the exception of the Triki, whose were in Hardy Weinberg dysequilibrium for the glutathione S-transferase P1 polymorphism.Interestingly, according to all the analyzed single nucleotide polymorphisms (SNPs), the Triki population was the most differentiated and homogeneous group of the six populations analyzed. A comparison of our data with those previously published for some Caucasian, Asian and Black populations showed quite significant differences. These differences were remarkable with all the Mexican populations having a lower frequency of the 105V allele of the glutathione S-transferase P1 and reduced occurrence of the 222A allele of the 5,10 methylenetetrahydrofolate reductase. Our results show the genetic diversity among different Mexican populations and with other racial groups.

Geographical and ethnic distribution of single nucleotide polymorphisms within genes of the folate/homocysteine pathway metabolism

“…Our observed MTHFR C677T frequencies were similar to those of populations with the same ancestry of the 1000GP or of previous reports (Davalos et al 2000; Juarez-Velazquez et al 2010; Wilcken et al 2003). Nevertheless, we have provided a more detailed description of within population differences that was not captured in any of the previous studies.…”

“…The risk-associated genotypes MTHFD1 1958AA and MTHFR 677TT had a particularly high frequency in the MEX population, 34 and 25 %, respectively. The frequencies of both SNPs in the AMI groups included in our study were >55 %, supporting the hypothesis that this phenomenon is related to the Amerindian ancestral contribution to the admixture process (Wilcken et al 2003; Davalos et al 2000; Juarez-Velazquez et al 2010). This is further supported by the observed gradient in the frequency of these variants in the MEX populations analyzed, within which, the highest and the lowest frequencies were observed in GUE and SON, the groups with, respectively, the highest and the lowest Amerindian ancestry contribution in this set of samples (Silva-Zolezzi et al 2009).…”

Functional Polymorphism rs13306560 of the MTHFR Gene Is Associated With Essential Hypertension in a Mexican-Mestizo Population

“…Consistent with this hypothesis, a previous study by our group showed that several Mexican Amerindian populations have the highest reported frequency of the 677T allele. 32 About the rs13306560 polymorphism, an extensive study with European nuclear families showed that this variant, located in the MTHFR/CLCN6 locus, is strongly associated with diastolic BP. 10 In this study, we found a risk association trend between the −23A allele and hypertension in the childhood population.…”

VDRpolymorphisms are associated with bone mineral density in post-menopausal Mayan-Mestizo women

“…Due to the fact that important ethnic differences have been observed in BMD and that the Amerindian-Mestizo population of Mexico are genetically heterogeneous (Canto-Cetina et al, 2013;Juárez-Velázquez et al, 2010), the principal aim of this study was to analyse the possible association between rs2228570 and rs731236 of VDR as well as their haplotypes, with variations in BMD in one Amerindian-Mestizo population from Mexico: post-menopausal Mayan-Mestizo women.…”