Genome-wide study of gene-by-sex interactions identifies risks for cleft palate.
Journal
Human genetics
ISSN: 1432-1203
Titre abrégé: Hum Genet
Pays: Germany
ID NLM: 7613873
Informations de publication
Date de publication:
03 Oct 2024
03 Oct 2024
Historique:
received:
01
05
2024
accepted:
10
09
2024
medline:
3
10
2024
pubmed:
3
10
2024
entrez:
3
10
2024
Statut:
aheadofprint
Résumé
Structural birth defects affect 3-4% of all live births and, depending on the type, tend to manifest in a sex-biased manner. Orofacial clefts (OFCs) are the most common craniofacial structural birth defects and are often divided into cleft lip with or without cleft palate (CL/P) and cleft palate only (CP). Previous studies have found sex-specific risks for CL/P, but these risks have yet to be evaluated in CP. CL/P is more common in males and CP is more frequently observed in females, so we hypothesized there would also be sex-specific differences for CP. Using a trio-based cohort, we performed sex-stratified genome-wide association studies (GWAS) based on proband sex followed by a genome-wide gene-by-sex (G × S) interaction testing. There were 13 loci significant for G × S interactions, with the top finding in LTBP1 (RR = 3.37 [2.04-5.56], p = 1.93 × 10
Identifiants
pubmed: 39361040
doi: 10.1007/s00439-024-02704-y
pii: 10.1007/s00439-024-02704-y
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIH HHS
ID : T32-GM008490
Pays : United States
Organisme : NIH HHS
ID : R01-DE014581
Pays : United States
Organisme : NIH HHS
ID : R01-DE028300
Pays : United States
Organisme : NIH HHS
ID : R00-DE024571
Pays : United States
Organisme : NIH HHS
ID : R01-DE011931
Pays : United States
Organisme : NIH HHS
ID : R37-DE008559
Pays : United States
Organisme : NIH HHS
ID : R01-DE016148
Pays : United States
Organisme : NIH HHS
ID : R01-DE016148
Pays : United States
Organisme : NIH HHS
ID : X01-HG010835
Pays : United States
Informations de copyright
© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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