Objective: To detect single nucleotide polymorphisms(SNPs) existing in code region of beta(2)-adrenoceptor(2-AR) gene and to investigate association of the identified SNPs with essential hypertension in Chinese Han population.
Methods: Beta(2)-AR gene was sequenced with fluorescent labelling automatic sequencing method in unrelated Chinese Han population from Dabie Mountain in Anhui Province. Genotype of the SNPs were typed with PCR-RFLP method.
Results: Two SNPs were identified in length of 774bp, at position + 1053 with G-->C substitution and + 1239 with A-->G substitution respectively. The frequency of genotype of the two SNPs complied well with the Hardy-Weinberg equilibrium in normal group. Distribution of genotype AA, GA, GG of the SNPs at locus + 1239 in hypertension group was significantly different from that in normal group (chi(2) = 6.70, df = 2, P < 0.05). No significant difference was observed in distribution of genotypes of the SNPs at locus + 1053 between the two groups.
Conclusion: These results indicate that the SNPs at locus + 1239 of beta(2)-AR gene is associated with EH. The SNPs at position + 1053 was not linked to hypertension.