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J Renin Angiotensin Aldosterone Syst ; 12(3): 231-7, 2011 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-21163863

RESUMO

INTRODUCTION: 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. MATERIALS AND METHODS: 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. RESULTS: 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. CONCLUSION: 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.


Assuntos
Variação Genética , Haplótipos/genética , Desequilíbrio de Ligação/genética , Renina/genética , Sequência de Bases , Eletroforese em Gel de Ágar , Etnicidade/genética , Frequência do Gene/genética , Alemanha , Humanos , Funções Verossimilhança , México , Dados de Sequência Molecular , Polimorfismo de Nucleotídeo Único/genética
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