Association Analysis of Nonsyndromic Congenital Heart Disease and Tag Single Nucleotide Polymorphisms of TBX20 and Genes in the Ras-MAPK Pathway

作者：Luo, Zhiling; Shen, Yan; Chen, Wei; Ma, Xuejuan; Liu, Liping; Huang, Xiaoqin; Yang, Zhaoqing; Sun, Hao^*

来源：Genetic Testing and Molecular Biomarkers, 2017, 21(7): 440-444.

DOI：10.1089/gtmb.2016.0369

• congenital heart disease
• Ras-MAPK pathway
• tag SNP
• TBX20
• association analysis

Aims: The present study was performed to determine whether there are variants in TBX20 and genes of the Ras-MAPK pathway associated with nonsyndromic congenital heart disease (ns-CHD). @@@ Materials and Methods: A total of 223 ns-CHD patients and 273 healthy controls from China were selected as study subjects to perform an association analysis using 22 tag single-nucleotide polymorphisms (tag SNPs) located either in one of three genes in the Ras-MAPK pathway (MAP2K2, BRAF, and RAF1) or the TBX20 gene that have previously been associated with syndromic congenital heart disease. @@@ Results: The results showed that none of these tag SNPs are associated with ns-CHD. @@@ Conclusions: The results suggested that these disease-causing genes, which were previously discovered in familial cases, might not be the major genetic factors causing the development of ns-CHD in Chinese.

• 出版日期2017-7
• 单位昆明医科大学; 中国医学科学院北京协和医院; 中国医学科学院医学生物学研究所