BACKGROUND The GNB3 gene is expressed in cone but not rod photoreceptors of vertebrates, where it acts as the β transducin subunit in the colour visual transduction process. A naturally occurring mutation 'D153del' in the GNB3 gene causes the recessively inherited blinding phenotype retinopathy globe enlarged (rge) disease in chickens. GNB3 is however also expressed in most other vertebrate tis...

The G-protein beta subunit 3 (GNB3) gene has been implicated in obesity risk; however, the molecular mechanism of GNB3-related disease is unknown. GNB3 duplication is responsible for a syndromic form of childhood obesity, and an activating DNA sequence variant (C825T) in GNB3 is also associated with obesity. To test the hypothesis that GNB3 overexpression causes obesity, we created bacterial ar...

Recent studies have shown that a polymorphism (C825T) in the gene encoding the G protein beta 3 subunit (GNB3) is associated with hypertension and obesity. We characterized the entire GNB3 gene, which spans 7.5 kb and is composed of 11 exons and 10 introns. Its promoter lacks a TATA box but harbors GC-rich regions. The functional activity of the GNB3 promoter was verified with reporter gene ass...

A common polymorphism (825 C/T) in exon 10 of the GNB3 gene, that encodes for the -3 subunit, has been associated with different degrees of activation of heterotrimeric guanine nucleotide binding proteins (G proteins). Many hormones and neurotransmitters use specific receptors that interact noncovalently with G proteins in the transmembrane signaling process. Among them, insulin uses an inhibit...

Background & Aims: Vesicoureteral Reflux (VUR) is a congenital defect of the urinary tract which has been reported in approximately 1% of children. Several immunological and genetic factors are listed as major causes of this problem. The C825T polymorphism of the GNB3 gene is among the genetic factors that may be involved in the development or progression of the disease. Participatory role o...

To date, the human G-protein beta 3 subunit (GNB3) gene and some of its variants represent some of the best examples of genetic influences that are involved in the determination of hypertension and obesity, which make it a sensible candidate gene for type 2 diabetes. To assess the influence of GNB3 in type II diabetes mellitus (NIDDM), we carried out a retrospective, case-control study of varia...

In polygenetic disorders, such as ischemic heart disease, the investigation of gene-gene interactions rather than determination of single gene effects is crucial to better understand the contribution of genetic factors. The 825T allele of the G-protein ss(3)-subunit gene (GNB3) associated with enhanced G-protein signaling is a candidate to interact with the angiotensin-converting enzyme (ACE) d...

essential hypertension (eh) accounts for 90-95% of hypertension cases. eh, as a progressive cardiovascular syndrome arising from complex and interrelated etiologies, results from combined and interactive effects of genetic and environmental factors. the objective was to investigate the ace i/d and gnb3 c825t polymorphisms and both genotypes combined with seeking gene-gene interactions to furthe...

OBJECTIVE The G protein is responsible for signal intracellular transduction and participates in cardiovascular reflexes. C825T polymorphism of the gene encodes the B3 subunit of G protein (GNB3) and causes the increased intracellular signal transduction. The aim was the evaluation GNB3 C825T polymorphism manifestation in vasovagal patients with no other diseases. METHODS In 68 positive tilte...