PMID: 11927836Apr 3, 2002Paper

Identification and ethnic distribution of major haplotypes in the gene GNB3 encoding the G-protein beta3 subunit

Pharmacogenetics
Dieter RosskopfWinfried Siffert

Abstract

The 825T-allele of the gene GNB3 encoding the G protein beta3 subunit is associated with hypertension and obesity, and identifies individuals highly responsive to diuretic therapy. Gbeta3s, a Gbeta3 protein variant generated by alternative splicing in carriers of the 825T-allele, is linked to increased signal transduction and is a potential cause for the observed pathophysiology. Here, we searched the entire GNB3 gene for additional polymorphisms and analysed their prevalence in Caucasian, black African and Asian populations. We detected six novel single nucleotide polymorphisms which were termed according to their location as G76A, G1906T, G2906A, A3882C, G5177A, and G5249A. Furthermore, we found a CACA-insertion-deletion polymorphism at position 6496. Genotyping and association studies resulted in the definition of two major GNB3 haplotypes, termed 'C-haplotype' (alleles 825C, 3882A, 5249G, 6496CACA-) and 'T-haplotype' (alleles 825T, 3882C, 5249A, 6496CACA+). Molecular modelling studies revealed that the pre-mRNA structures of both haplotypes exhibit marked differences which may account for the alternative splicing predominantly observed with the T-haplotype. The prevalence of these haplotypes in major ethnic populations diff...Continue Reading

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Citations

Jan 31, 2007·Naunyn-Schmiedeberg's Archives of Pharmacology·Dieter RosskopfRafael Schäfers
Dec 7, 2007·European Journal of Clinical Pharmacology·Daniela D VargensGuilherme Suarez-Kurtz
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Jan 18, 2003·Current Hypertension Reports·Winfried Siffert
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