SINGLE-NUCLEOTIDE POLYMORPHISMS IN EXONIC
AND PROMOTER REGIONS OF TRANSCRIPTION
FACTORS OF SECOND HEART FIELD ASSOCIATED
WITH SPORADIC CONGENITAL CARDIAC ANOMALIES
Wang E, Fan X, Nie Y, Zheng Z, Hu S,
*Corresponding Author: Shengshou Hu M. D., Cardiac Surgery Department, Fuwai Hospital, Chinese
Academy of Medical Sciences, Peking Union Medical College, Xicheng District, Beijing, 100037,
China, Tel & Fax: 86-010-88322325 E-mail: shengshouh@sina.cn
page: 39
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Abstract
Multiple second heart field (SHF) transcription factors
are involved in cardiac development. In this article
we evaluate the relationship between SHF transcription
factor polymorphisms and congenital heart disease (CHD).
Ten polymorphisms were used for genotyping, and three
of these were used for the luciferase assay. The risk of
CHD was increased 4.31 times and 1.54 times in the C
allele of GATA5: rs6061243 G>C and G allele of TBX20:
rs336283 A>G, respectively. The minor alleles of SMYD1:
rs1542088 T>G, MEF2C: rs80043958 A>G and GATA5:
rs6587239 T>C increased the risk of the simple types of
CHD. The minor alleles of GATA5: rs41305803 G>A and
MEF2C: rs304154 A>G increased the risk of tetralogy of
Fallot (TOF). The minor alleles of TBX20: rs336284 A>G
and SMYD1: rs88387557 T>G only increased the risk of
a single ventricle (SV). Luciferase assays revealed that
the minor alleles of rs304154 and rs336284 decreased the
transcriptional levels of MEF2C and TBX20, respectively
(p<0.01). When combined with HLTF, the G promoter
showed a higher expression level than the A promoter in
rs80043958 (p<0.01). Our findings suggest that minor
alleles of SNPs in the exonic and promoter regions of
transcription factors in the SHF can increase the risks of
sporadic CHD.
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