Trio-Based Gwas Identifies Novel Associations and Subtype-Specific Risk Factors For Cleft Palate

Authors

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

Language

English

Publication Date

10-12-2023

Journal

Human Genetics and Genomics Advances

DOI

10.1016/j.xhgg.2023.100234

PMID

37719664

PMCID

PMC10502411

PubMedCentral® Posted Date

August 2023

PubMedCentral® Full Text Version

Post-print

Abstract

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

Keywords

Humans, Animals, Mice, Cleft Palate, Genome-Wide Association Study, Cleft Lip, Risk Factors, Angiopoietin-Like Protein 2

Published Open-Access

yes

Recommended Citation

Robinson, Kelsey; Mosley, Trenell J; Rivera-González, Kenneth S; et al., "Trio-Based Gwas Identifies Novel Associations and Subtype-Specific Risk Factors For Cleft Palate" (2023). Faculty, Staff and Student Publications. 2203.
https://digitalcommons.library.tmc.edu/uthmed_docs/2203