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Polymorphisms of α 1a and α 1b ‐adrenergic receptors help identify patients with arterial hypertension
Author(s) -
Büscher Rainer,
Hoerning André,
Rana Brinda K.,
Rao Fangwen,
O'Connor Daniel T.,
Insel Paul A.
Publication year - 2007
Publication title -
the faseb journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.709
H-Index - 277
eISSN - 1530-6860
pISSN - 0892-6638
DOI - 10.1096/fasebj.21.5.a422-b
Subject(s) - single nucleotide polymorphism , snp , gene , allele , population , medicine , genetics , polymorphism (computer science) , biology , coding region , bioinformatics , endocrinology , genotype , environmental health
Three α 1 ‐adrenergic receptor (α 1 AR) subtypes have been identified based on results from pharmacological and molecular cloning studies: α 1a AR (chr. 8), α 1b AR (chr. 5) and α 1d AR (chr. 20). Several naturally‐occurring polymorphisms of these α 1 AR have been identified but their involvement in human disease states such as hypertension is not well‐defined. We used MALDI‐TOF mass spectrometry to analyze the coding region of all three α 1 AR subtype genes in a population of 807 Caucasian and African American (AA) subjects and identified only two frequent polymorphisms (SNPs): 347Arg/Cys in the α 1a AR and 183Gly/Gly in the α 1b AR coding sequences. The 347Arg allele was significantly more frequent in AA (347Arg=0.42, 347Cys=0.58 [Caucasians] vs. Arg=0.72, Gly=0.28 [AA], p<0.05) but we found no such ethnic differences for the α 1b AR SNP. Age and gender were similar but AA had a significantly higher BMI (p=0.0003) and showed association of higher mean arterial pressure with the presence of the SNPs in either α 1 AR: α 1a AR 347Arg/Cys: 85.1±2.2mmHg [Caucasians] vs. 95.2 ±5.2mmHg [AA], p<0.0001; α 1b AR 183Gly/Gly: 91.2±1.6mmHg [Caucasians] vs. 96.9±1.7mmHg [AA], p=0.0003. We conclude that α 1a AR and α 1b AR SNPs may help identify patients at risk for arterial hypertension, in particular in African Americans. (Supported by grants from NIH).