Department of Physiology, Jiangxi Medical College of Nanchang University, Nanchang, Jiangxi, 330006, People's Republic of China.
Joint Program of Nanchang University and Queen Mary University of London, Jiangxi Medical College of Nanchang University, Nanchang, Jiangxi, China.
Purinergic Signal. 2023 Dec;19(4):663-671. doi: 10.1007/s11302-023-09921-6. Epub 2023 Jan 19.
Hypertension has become a prominent public health concern. Essential hypertension (EH) is a polygenic disorder caused by multiple susceptibility genes. It has been previously shown that the purinergic P2Y receptor (P2YR) regulates blood pressure; however, whether P2YR genetic polymorphisms correlate with EH has not been investigated in Chinese. Our study included 500 EH cases and 504 controls who are Chinese postmenopausal women. We used allele-specific polymerase chain reaction (ASPCR) to genotype five single-nucleotide polymorphism (SNPs) in the P2YR gene, i.e., rs4944831, rs12366239, rs1783596, rs4382936, and rs10898909. We assessed the association of P2YR genetic polymorphisms with EH susceptibility. The results demonstrated that P2YR rs4382936A was correlated with a high risk of EH; particularly, the participants with the rs4382936A allele and CA/AA/(CA+AA) genotypes were at higher risks to EH compared to the subjects with the rs4382936C allele and CC genotype. Moreover, haplotype CAG combined by rs1783596-rs4382936-rs10898909 was a susceptible haplotype for EH, whereas haplotype CCG was a protective haplotype for EH. These results may provide new evidence for applying P2YR genetic polymorphisms as useful markers in clinic screening or monitoring potential EH cases in a population of Chinese postmenopausal women.
高血压已成为突出的公共卫生问题。原发性高血压（EH）是一种由多个易感基因引起的多基因疾病。先前已经表明，嘌呤能 P2Y 受体（P2YR）调节血压；然而，在中国人群中，P2YR 基因遗传多态性是否与 EH 相关尚未得到研究。我们的研究纳入了 500 例 EH 病例和 504 例对照，均为中国绝经后女性。我们使用等位基因特异性聚合酶链反应（ASPCR）对 P2YR 基因的 5 个单核苷酸多态性（SNPs）进行基因分型，即 rs4944831、rs12366239、rs1783596、rs4382936 和 rs10898909。我们评估了 P2YR 基因多态性与 EH 易感性的关联。结果表明，P2YR rs4382936A 与 EH 的高风险相关；特别是，与 rs4382936C 等位基因和 CC 基因型的参与者相比，携带 rs4382936A 等位基因和 CA/AA/(CA+AA)基因型的参与者患 EH 的风险更高。此外，由 rs1783596-rs4382936-rs10898909 组成的单倍型 CAG 是 EH 的易感单倍型，而单倍型 CCG 是 EH 的保护单倍型。这些结果可能为应用 P2YR 基因多态性作为中国绝经后妇女人群中临床筛查或监测潜在 EH 病例的有用标志物提供新的证据。
