Journal of Hypertension · 2006 · 32 citations · 27 references
Life SciencesGeneticsMolecular GeneticsGenetic EpidemiologyHuman GeneticsMedical GeneticsCardiovascular DiseaseGenetic RiskGenotype-phenotype Association AnalysisHypertensive DisordersReceptor PolymorphismsAdrenergic Receptor GeneticsBeta-adrenergic Receptor PolymorphismsCoding Region VariationGenetic Determinants Of HypertensionHaplotype Frequency AnalysisHaplotype Frequency EstimationHypertension PathophysiologySingle-nucleotide Polymorphisms
OBJECTIVE: The human beta2-adrenergic receptor (ADRB2) gene is a candidate for contributing to the pathophysiology of essential hypertension. The aims of the present study were to investigate the associations of differing single nucleotide polymorphisms (SNPs) and haplotypes of the ADRB2 gene promoter and coding regions with essential hypertension in genetically homogeneous Hani and Yi minority groups that are non-Han Chinese. METHODS: Four SNPs in the regulatory and seven SNPs in the coding region were genotyped in 271 essential hypertension individuals and 267 controls, and eight haplotypes in the regulatory and five haplotypes in the coding region were determined and tested for association using the likelihood test statistic. RESULTS: There were significant associations of essential hypertension with separate SNPs located in both the regulatory and coding regions in the Yi minority group. In contrast, no associations of essential hypertension were detected with any of single SNPs in the Hani minority group. There is a significant difference in haplotype frequency distributions between the hypertensive participants and the controls in two groups (P < 10). CONCLUSION: The results indicate that variants at the ADRB2 locus may play a role in the pathophysiology of hypertension specifically in the Yi minority group.
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The Future of Genetic Studies of Complex Human Diseases
Neil Risch, Kathleen R. Merikangas · Science · 1996 · 5.4K citations