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
Zhiling LuoHao Sun

Abstract

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). 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. The results showed that none of these tag SNPs are associated with ns-CHD. 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.

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Citations

Jul 2, 2020·Database : the Journal of Biological Databases and Curation·Lan YangBairong Shen

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Methods Mentioned

BETA
Assay
PCR
genotyping

Software Mentioned

SHEsis
HaploView
SPSS
PLINK
Sequenom Assay Designer

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