期刊
GENES
卷 12, 期 5, 页码 -出版社
MDPI
DOI: 10.3390/genes12050655
关键词
association; case-control; case-parent trios; congenital; conotruncal; heart; gene; genetics; genome-wide; malformation
资金
- Children's Hospital of Philadelphia
- [P01 HD070454]
- [U01-HL098153]
- [HL128711]
- [U01-098188]
- [U01-HL131003]
- [U01-HL098147]
- [U01-HL098123]
- [U01-HL098162]
- [P50 HL74713]
- [UL1RR024134]
- [UL1TR000003]
Research shows an association between cytoskeletal genes and conotruncal heart defects (CHDs), suggesting that common variants may increase the risk of CHDs.
There is strong evidence for a genetic contribution to non-syndromic congenital heart defects (CHDs). However, exome- and genome-wide studies conducted at the variant and gene-level have identified few genome-wide significant CHD-related genes. Gene-set analyses are a useful complement to such studies and candidate gene-set analyses of rare variants have provided insight into the genetics of CHDs. However, similar analyses have not been conducted using data on common genetic variants. Consequently, we conducted common variant analyses of 15 CHD candidate gene-sets, using data from two common types of CHDs: conotruncal heart defects (1431 cases) and left ventricular outflow tract defects (509 cases). After Bonferroni correction for evaluation of multiple gene-sets, the cytoskeletal gene-set was significantly associated with conotruncal heart defects (beta(S) = 0.09; 95% confidence interval (CI) 0.03-0.15). This association was stronger when analyses were restricted to the sub-set of cytoskeletal genes that have been observed to harbor rare damaging genotypes in at least two CHD cases (beta(S) = 0.32, 95% CI 0.08-0.56). These findings add to the evidence linking cytoskeletal genes to CHDs and suggest that, for cytoskeletal genes, common variation may contribute to the risk of CHDs.
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