Identification and ethnic distribution of major haplotypes in the gene GNB3 encoding the G-protein β3 subunit

摘要: The 825T-allele of the gene GNB3 encoding G protein beta3 subunit is associated with hypertension and obesity, identifies individuals highly responsive to diuretic therapy. Gbeta3s, a Gbeta3 variant generated by alternative splicing in carriers 825T-allele, linked increased signal transduction potential cause for observed pathophysiology. Here, we searched entire additional polymorphisms analysed their prevalence Caucasian, black African Asian populations. We detected six novel single nucleotide which were termed according location as G76A, G1906T, G2906A, A3882C, G5177A, G5249A. Furthermore, found CACA-insertion-deletion polymorphism at position 6496. Genotyping association studies resulted definition two major haplotypes, 'C-haplotype' (alleles 825C, 3882A, 5249G, 6496CACA-) 'T-haplotype' 825T, 3882C, 5249A, 6496CACA+). Molecular modelling revealed that pre-mRNA structures both haplotypes exhibit marked differences may account predominantly T-haplotype. these ethnic populations differs considerably. frequent polymorphisms. These variants restricted one or Our results will aid future on population-specific effects risk course diseases, including hypertension, stroke myocardial infarction. they contribute understanding GNB3-related pharmacogenetic response drugs, already shown diuretics antidepressants.