@Article{chd.2022.025451,
AUTHOR = {Ji-Yang Zuo, Huan-Xin Chen, Zhi-Gang Liu, Qin Yang, Guo-Wei He},
TITLE = {Genetic Analysis of Variants of the <i>MYH6</i> Gene Promoter in Congenital Atrial Septal Defects},
JOURNAL = {Structural and Congenital Heart Disease},
VOLUME = {18},
YEAR = {2023},
NUMBER = {1},
PAGES = {7--21},
URL = {http://www.techscience.com/schd/v18n1/51276},
ISSN = {3071-1738},
ABSTRACT = {<b>Background:</b> Atrial septal defect (ASD) is one of the common congenital heart diseases. The <i>MYH6</i> gene has a
critical role in cardiac development but the role of <i>MYH6</i> promoter variants in patients with ASD has not been
explored. <b>Methods:</b> In 613 subjects including 320 ASD patients, we investigated the <i>MYH6</i> gene promoter variants and verified the effect on gene expression by using cellular functional experiments and bioinformatics analysis. <b>Results:</b> Eleven variants were identified in the <i>MYH6</i> gene promoter, of which four variants were found only
in ASD patients, and two variants (g.3434G>C and g.4524C>T) were identified for the first time. Cellular functional experiments indicated that all four variants reduced the transcriptional activity of the <i>MYH6</i> gene promoter
(<i>p</i> < 0.05). Subsequent analysis through the JASPAR (A database of transcription factor binding profiles) suggests
that these variants may alter transcription factor binding sites, which may in turn lead to changes in myocardin
subunit expression and ASD formation. <b>Conclusions:</b> Our study for the first time focuses on variants in the promoter region of the <i>MYH6</i> gene in Chinese patients with ASD and the discovered variants have functional significance. The study provides new insights in the role of the <i>MYH6</i> gene promoter region to better understand the
genetic basis of ASD formation and facilitates clinical diagnosis.},
DOI = {10.32604/chd.2022.025451}
}