OBJECTIVE: To explore the relationship between NKX2-5 gene polymorphisms and CHD in Tibetan people.
METHODS: Blood samples were collected retrospectively from Tibetan patients diagnosed with CHD as well as healthy Tibetans, and the exons of NKX2-5 were sequenced. The MassARRAY technique was used to detect and genotype candidate tag single nucleotide polymorphisms (SNPs) in the non-coding regions of NKX2-5.
RESULTS: Exon sequencing revealed no difference in the coding regions of the NKX2-5 gene between the CHD and control groups. In the non-coding regions of NKX2-5, rs6882776 and rs2546741 differed significantly between the two groups. Strong linkage disequilibrium was found between the selected sites of NKX2-5.
CONCLUSIONS: The NKX2-5 exons do not associate with CHD in Tibetans. Rs6882776 and rs2546741 in the non-coding regions of NKX2-5 may protect against CHD in Tibetans. The NKX2-5 haplotype associated with CHD occurrence in the Tibetan population.
目的:探讨NKX2-5基因多态性与藏族冠心病的关系。
方法:从被诊断为冠心病的藏族患者以及健康的藏族患者中收集血液样本,并对NKX2-5的外显子进行测序。MassARRAY技术用于检测和分型NKX2-5非编码区中的候选标签单核苷酸多态性(SNP)。
结果:外显子测序显示,CHD组和对照组的NKX2-5基因编码区没有差异。在NKX2-5的非编码区中,rs6882776和rs2546741在两组之间存在显着差异。在NKX2-5的选定位点之间发现了强的连锁不平衡。
结论:在藏族人中,NKX2-5外显子与冠心病无关。NKX2-5非编码区的rs6882776和rs2546741可能对藏族冠心病具有保护作用。NKX2-5单倍型与藏族人群冠心病的发生有关。