Chemical Sciences School, University of Colima, Colima, Mexico.
J Renin Angiotensin Aldosterone Syst. 2011 Sep;12(3):231-7. doi: 10.1177/1470320310388440. Epub 2010 Dec 16.
Renin is the main rate-limiting enzyme in the renin-angiotensin-aldosterone system. Its gene, REN, is a candidate crucial factor in essential hypertension and cardiovascular disease. The aim of this study was to evaluate allele and haplotype distributions of REN polymorphisms, and to estimate normalised linkage disequilibrium (D') in Mexican and German populations.
Four groups were studied for the REN single nucleotide polymorphisms (SNPs) 1205C>T, 1303G>A, and 10607G>A, in population samples of Mexican Mestizo (n = 86), Mexican Huichol (n = 49), German (n = 39), and individuals with hypertension diagnosis (n = 66). Polymorphisms were detected by PCR-RFLP. Genotype, allele and haplotype frequencies were estimated.
SNP 1205C>T and 10607G>A allele and genotype distribution showed inter-group differences. The 1205T and 10607A allele showed a significance difference in hypertensive population. Haplotype analysis also showed some inter-group differences, especially in 1205C-1303G-10607G, 1205C-1303G-10607A and 1205T-1303G-10607G haplotypes. The segregation analysis disclosed complete linkage disequilibrium between 1205 and 1303 loci.
These results provide an example of genetic diversity in related populations and illustrate the convenience of increasing the number of loci in associative studies between diseases and candidate genes.
肾素是肾素-血管紧张素-醛固酮系统中的主要限速酶。其基因 REN 是原发性高血压和心血管疾病的关键候选因素。本研究旨在评估 REN 多态性的等位基因和单倍型分布，并估计墨西哥和德国人群中正常化连锁不平衡（D'）。
对墨西哥梅斯蒂索人（n=86）、墨西哥惠乔尔人（n=49）、德国人群（n=39）和高血压诊断个体（n=66）的 REN 单核苷酸多态性（SNP）1205C>T、1303G>A 和 10607G>A 进行了 4 组研究。通过 PCR-RFLP 检测多态性。估计了基因型、等位基因和单倍型频率。
SNP 1205C>T 和 10607G>A 等位基因和基因型分布存在组间差异。1205T 和 10607A 等位基因在高血压人群中存在显著差异。单倍型分析也显示出一些组间差异，特别是在 1205C-1303G-10607G、1205C-1303G-10607A 和 1205T-1303G-10607G 单倍型中。分离分析显示 1205 和 1303 位点之间完全连锁不平衡。
这些结果提供了相关人群遗传多样性的一个例子，并说明了在疾病与候选基因之间的关联研究中增加基因座数量的便利性。
