Genome-wide Interaction Study Implicates VGLL2 and Alcohol Exposure and PRL and Smoking in Orofacial Cleft Risk

Jenna C Carlson; John R Shaffer; Fred Deleyiannis; Jacqueline T Hecht; George L Wehby; Kaare Christensen; Eleanor Feingold; Seth M Weinberg; Mary L Marazita; Elizabeth J Leslie

doi:10.3389/fcell.2022.621261

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Genome-wide Interaction Study Implicates VGLL2 and Alcohol Exposure and PRL and Smoking in Orofacial Cleft Risk

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Genome-wide Interaction Study Implicates VGLL2 and Alcohol Exposure and PRL and Smoking in Orofacial Cleft Risk

Jenna C Carlson, John R Shaffer, Fred Deleyiannis, Jacqueline T Hecht, George L Wehby, Kaare Christensen, Eleanor Feingold, Seth M Weinberg, Mary L Marazita and Elizabeth J Leslie

Frontiers in cell and developmental biology, Vol.10, 621261

02/10/2022

DOI: 10.3389/fcell.2022.621261

PMCID: PMC8866867

PMID: 35223824

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https://doi.org/10.3389/fcell.2022.621261View

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Abstract

Non-syndromic cleft lip with or without cleft palate (NSCL/P) is a common birth defect, affecting approximately 1 in 700 births. NSCL/P has complex etiology including several known genes and environmental factors; however, known genetic risk variants only account for a small fraction of the heritability of NSCL/P. It is commonly suggested that gene-by-environment (G×E) interactions may help explain some of the “missing” heritability of NSCL/P. We conducted a genome-wide G×E interaction study in cases and controls of European ancestry with three common maternal exposures during pregnancy: alcohol, smoking, and vitamin use using a two-stage design. After selecting 127 loci with suggestive 2df tests for gene and G x E effects, 40 loci showed significant G x E effects after correcting for multiple tests. Notable interactions included SNPs of 6q22 near VGLL2 with alcohol and 6p22.3 near PRL with smoking. These interactions could provide new insights into the etiology of CL/P and new opportunities to modify risk through behavioral changes.

case- control

gene-environement interactions

GWAS

maternal exposures

orofacial cleft

Details

Title: Subtitle: Genome-wide Interaction Study Implicates VGLL2 and Alcohol Exposure and PRL and Smoking in Orofacial Cleft Risk
Creators: Jenna C Carlson
John R Shaffer
Fred Deleyiannis
Jacqueline T Hecht
George L Wehby
Kaare Christensen
Eleanor Feingold
Seth M Weinberg
Mary L Marazita
Elizabeth J Leslie
Resource Type: Journal article
Publication Details: Frontiers in cell and developmental biology, Vol.10, 621261
DOI: 10.3389/fcell.2022.621261
PMID: 35223824
PMCID: PMC8866867
NLM abbreviation: Front Cell Dev Biol
ISSN: 2296-634X
Grant note: DOI: 10.13039/100000072, name: National Institute of Dental and Craniofacial Research; DOI: 10.13039/100000051, name: National Human Genome Research Institute
Language: English
Date published: 02/10/2022
Academic Unit: Preventive and Community Dentistry; Health Management and Policy; Economics; Public Policy Center (Archive)
Record Identifier: 9984359708602771

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