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Abstract：
BACKGROUND: The pathogenesis of congenital heart disease (CHD) has not been fully elucidated, and this study considers the interaction between inheritance and the environment as the main cause of CHD. Previous studies have found that the incidence of CHD in the Tibetan plateau population is significantly higher than in low-altitude populations. Numerous reports have confirmed that NKX2-5 gene mutations can lead to coronary heart disease, but the relationship between NKX2-5 and Tibetan nationality has not yet been reported.
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.
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.
摘要：
背景：先天性心脏病（CHD）的发病机制尚未完全阐明，本研究认为遗传与环境的相互作用是导致冠心病的主要原因。以往的研究发现，青藏高原人群的冠心病发病率明显高于低海拔人群。大量报道证实NKX2-5基因突变可导致冠心病,但NKX2-5与藏族的关系尚未见报道。
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。
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。
