机构：[1]Department of Cardiology , The First Affiliated Hospital of Kunming Medical University, Kunming, China内科科室心脏内科昆明医科大学附属第一医院[2]Department of Radiology, The First Affiliated Hospital of Kunming Medical University, Kunming, China医技科室医学影像中心放射科昆明医科大学附属第一医院[3]Department of Medical Genetics, The Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union MedicalCollege, Kunming, China
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.
基金：
Chinese National Natural Science FoundationNational Natural Science Foundation of China [31571304, 81660052]; Application of Basic Research Project - Yunnan Provincial Science and Technology Department; Kunming Medical University
第一作者机构：[1]Department of Cardiology , The First Affiliated Hospital of Kunming Medical University, Kunming, China
通讯作者：
通讯机构：[*1]The Department of Medical Genetics Institute of Medical Biology Chinese Academy of Medical Sciences and Peking Union Medical College 935 Jiaoling Road Kunming, Yunnan 650118 China
推荐引用方式(GB/T 7714)：
Luo Zhiling,Shen Yan,Chen Wei,et al.Association Analysis of Nonsyndromic Congenital Heart Disease and Tag Single Nucleotide Polymorphisms of TBX20 and Genes in the Ras-MAPK Pathway[J].GENETIC TESTING AND MOLECULAR BIOMARKERS.2017,21(7):440-444.doi:10.1089/gtmb.2016.0369.
APA：
Luo, Zhiling,Shen, Yan,Chen, Wei,Ma, Xuejuan,Liu, Liping...&Sun, Hao.(2017).Association Analysis of Nonsyndromic Congenital Heart Disease and Tag Single Nucleotide Polymorphisms of TBX20 and Genes in the Ras-MAPK Pathway.GENETIC TESTING AND MOLECULAR BIOMARKERS,21,(7)
MLA：
Luo, Zhiling,et al."Association Analysis of Nonsyndromic Congenital Heart Disease and Tag Single Nucleotide Polymorphisms of TBX20 and Genes in the Ras-MAPK Pathway".GENETIC TESTING AND MOLECULAR BIOMARKERS 21..7(2017):440-444
