Title |
Molecular genetics of G proteins and atherosclerosis risk
|
---|---|
Published in |
Basic Research in Cardiology, December 2001
|
DOI | 10.1007/s003950170012 |
Pubmed ID | |
Authors |
Winfried Siffert |
Abstract |
Using a classical candidate gene approach, we have described a common C825T polymorphism in the gene GNB3 which encodes the ubiquitously expressed beta3 subunit of heterotrimeric G proteins. The 825T allele is associated with alternative splicing of the gene and the formation of a truncated but functionally active beta3 subunit which is referred to as Gbeta3s. Expression of the splice variant results in an enhanced G protein activation on stimulation of G protein-coupled receptors. Carriers of the 825T allele show an increased risk for hypertension and left ventricular hypertrophy. Homo- and heterozygous 825T allele carriers respond with a stronger decrease in blood pressure to therapy with a thiazide diuretic than homozygous 825C allele carriers. Moreover, 825T allele carriers appear to have an increased risk for obesity which appears sensible given the established role of G protein signaling in adipogenesis. The highest frequencies of the 825T allele are found in ethnicities with the highest lifestyle-dependent risk for obesity, e.g., black Africans and East Asians. This suggests that the 825T allele fulfills the criteria of a thrifty genotype. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 16 | 89% |
Demographic breakdown
Readers by professional status | Count | As % |
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Other | 2 | 11% |
Student > Bachelor | 2 | 11% |
Student > Doctoral Student | 1 | 6% |
Student > Ph. D. Student | 1 | 6% |
Other | 1 | 6% |
Unknown | 5 | 28% |
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Neuroscience | 1 | 6% |
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