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Genome-Wide Association Studies of Conotruncal Heart Defects with Normally Related Great Vessels in the United States
| Content Provider | MDPI |
|---|---|
| Author | Oluwafemi, Omobola Musfee, Fadi Mitchell, Laura Goldmuntz, Elizabeth Xie, Hongbo Hakonarson, Hakon Morrow, Bernice Guo, Tingwei Taylor, Deanne McGinn, Donna McDonald- Emanuel, Beverly Agopian, A. |
| Copyright Year | 2021 |
| Description | Conotruncal defects with normally related great vessels (CTD-NRGVs) occur in both patients with and without 22q11.2 deletion syndrome (22q11.2DS), but it is unclear to what extent the genetically complex etiologies of these heart defects may overlap across these two groups, potentially involving variation within and/or outside of the 22q11.2 region. To explore this potential overlap, we conducted genome-wide SNP-level, gene-level, and gene set analyses using common variants, separately in each of five cohorts, including two with 22q11.2DS (N = 1472 total cases) and three without 22q11.2DS (N = 935 total cases). Results from the SNP-level analyses were combined in meta-analyses, and summary statistics from these analyses were also used in gene and gene set analyses. Across all these analyses, no association was significant after correction for multiple comparisons. However, several SNPs, genes, and gene sets with suggestive evidence of association were identified. For common inherited variants, we did not identify strong evidence for shared genomic mechanisms for CTD-NRGVs across individuals with and without 22q11.2 deletions. Nevertheless, several of our top gene-level and gene set results have been linked to cardiogenesis and may represent candidates for future work. |
| Starting Page | 1030 |
| e-ISSN | 20734425 |
| DOI | 10.3390/genes12071030 |
| Journal | Genes |
| Issue Number | 7 |
| Volume Number | 12 |
| Language | English |
| Publisher | MDPI |
| Publisher Date | 2021-07-01 |
| Access Restriction | Open |
| Subject Keyword | Genes Peripheral Vascular Disease Heart Defects Congenital Genome-wide Association Study |
| Content Type | Text |
| Resource Type | Article |
