Affiliated Hospital, College of Medicine, Hebei University of Engineering, Handan 056002, PR China.
College of Life Sciences and Food Engineering, Hebei University of Engineering, Handan 056021, PR China.
Rev Port Cardiol (Engl Ed). 2021 Feb;40(2):133-139. doi: 10.1016/j.repc.2020.05.015. Epub 2020 Dec 23.
Our aim was to perform an initial assessment of the polymorphic patterns of the PIN1 gene in patients with coronary heart disease (CHD). The PIN1-encoded protein (Pin1) suppresses eNOS-NO signaling and may impair cardiovascular function. Blood collection, DNA extraction, PCR amplification and gene sequencing were performed for thirty CHD participants living in central China, focusing on nine single nucleotide polymorphisms (SNPs). Their genetic linkages were revealed and their allele frequencies were compared with SNP data from the NCBI. Three major linkage patterns were identified: [1.rs2287839-5.rs2233682], [3.rs2233679-4.rs1077220-8.rs2287838] and [6.rs889162-7.rs2010457], suggesting correlated involvement in CHD and possible simultaneous genetic origin in ancient times. The frequencies of six SNPs are consistent with the NCBI data, while the frequencies of three SNPs (2.rs2233678, 4.rs1077220 and 9.rs4804461) are not consistent with the NCBI. Especially, the 3.rs2233679-4.rs1077220 linkage is different from other populations worldwide and may be an interesting genetic characteristic of Chinese CHD patients. Predictably, 1.rs2287839, 2.rs2233678, 3.rs2233679 and 5.rs2233682 may be strongly associated with CHD risk, although this requires future verification. The PIN1 SNP linkages lay a new genetic foundation for discovering novel molecular mechanisms of CHD and for exploring PIN1-based targeted treatment of CHD with nitric oxide regulatory therapies in clinical practice.
我们的目的是初步评估冠心病(CHD)患者中 PIN1 基因的多态性模式。PIN1 编码的蛋白质(Pin1)抑制 eNOS-NO 信号传导,可能损害心血管功能。对居住在中国中部的 30 名 CHD 患者进行了血液采集、DNA 提取、PCR 扩增和基因测序,重点研究了 9 个单核苷酸多态性(SNP)。揭示了它们的遗传连锁关系,并将其等位基因频率与 NCBI 的 SNP 数据进行了比较。确定了三种主要的连锁模式:[1.rs2287839-5.rs2233682]、[3.rs2233679-4.rs1077220-8.rs2287838]和[6.rs889162-7.rs2010457],提示它们与 CHD 相关,并可能在古代同时具有遗传起源。六个 SNP 的频率与 NCBI 数据一致,而三个 SNP(2.rs2233678、4.rs1077220 和 9.rs4804461)的频率与 NCBI 数据不一致。特别是,3.rs2233679-4.rs1077220 连锁与世界其他人群不同,可能是中国 CHD 患者的一个有趣的遗传特征。可以预见,1.rs2287839、2.rs2233678、3.rs2233679 和 5.rs2233682 可能与 CHD 风险密切相关,尽管这需要进一步验证。PIN1 SNP 连锁为发现 CHD 的新分子机制和探索基于 PIN1 的针对 CHD 的靶向治疗奠定了新的遗传基础,以在临床实践中进行一氧化氮调节治疗。