%0 Journal Article
%T Associations between NKX2-5 gene polymorphisms and congenital heart disease in the Chinese Tibetan population.
%A Ma Q
%A Yang Y
%A Liu Y
%J Am J Transl Res
%V 14
%N 11
%D 2022
%M 36505279
%F 3.94
%X <B>BACKGROUND: </B>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.<BR><B>OBJECTIVE: </B>To explore the relationship between NKX2-5 gene polymorphisms and CHD in Tibetan people.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>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.<BR><B>CONCLUSIONS: </B>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.