| Autor: |
Kelsey Robinson, Trenell J. Mosley, Kenneth S. Rivera-González, Christopher R. Jabbarpour, Sarah W. Curtis, Wasiu Lanre Adeyemo, Terri H. Beaty, Azeez Butali, Carmen J. Buxó, David J. Cutler, Michael P. Epstein, Lord J.J. Gowans, Jacqueline T. Hecht, Jeffrey C. Murray, Gary M. Shaw, Lina Moreno Uribe, Seth M. Weinberg, Harrison Brand, Mary L. Marazita, Robert J. Lipinski, Elizabeth J. Leslie |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
|
| Zdroj: |
HGG Advances, Vol 4, Iss 4, Pp 100234- (2023) |
| Druh dokumentu: |
article |
| ISSN: |
2666-2477 |
| DOI: |
10.1016/j.xhgg.2023.100234 |
| Popis: |
Summary: Cleft palate (CP) is one of the most common craniofacial birth defects; however, there are relatively few established genetic risk factors associated with its occurrence despite high heritability. Historically, CP has been studied as a single phenotype, although it manifests across a spectrum of defects involving the hard and/or soft palate. We performed a genome-wide association study using transmission disequilibrium tests of 435 case-parent trios to evaluate broad risks for any cleft palate (ACP) (n = 435), and subtype-specific risks for any cleft soft palate (CSP), (n = 259) and any cleft hard palate (CHP) (n = 125). We identified a single genome-wide significant locus at 9q33.3 (lead SNP rs7035976, p = 4.24 × 10−8) associated with CHP. One gene at this locus, angiopoietin-like 2 (ANGPTL2), plays a role in osteoblast differentiation. It is expressed both in craniofacial tissue of human embryos and developing mouse palatal shelves. We found 19 additional loci reaching suggestive significance (p |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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