The association of single nucleotide polymorphisms in 5'-regulatory region of β_2-adrenoceptor gene with hypertension in the elderly

Objective To detect single nucleotide polymorphisms (SNPs) existing in 5' regulatory region of β 2 adrenoceptor(AR) gene and to study the association of these SNPs with essential hypertension in the elderly. Methods β 2 AR gene of unrelated Chinese Han population collected from Dabie Mountain in Anhui Province was detected by fluorescent labeling automatic sequencing. Loci and genotypes of the SNPs were determined by polymerase chain reaction restriction fragmental length polymorphism (PCR RFLP) method. Results Two SNPs were identified within 1 3 kb in length at positions of -1 023 bp and -654 bp, respectively, with both being G→A substitution. The frequency of genotype of the two SNPs complied well with the Hardy Weinberg equilibrium. There was no significant difference in the distribution of the two SNPs genotypes of AA, GA, GG and in the A and G allele frequency between hypertension group and normal group ( P 0 05). The frequency of genotype AA (26 67 %) of the SNPs at position -1 023 bp in severe hypertension group was significantly different from that in normal group(6 98 %, P 0 05). The frequency of allele A (50 00 %) was also significantly higher than that in normal group (27 91 %, P 0 05). Conclusions The SNPs at locus -1 023 bp of human β 2 AR gene is associated with the hypertension in the elderly.