rs3827730
This variant is located in the FAF1 gene.
▶Research that mentions this SNP (1)
▶Evidence for gene-environment interaction in a genome wide study of nonsyndromic cleft palateAssociationN=550Beaty TH et al.(2011)· Genetic Epidemiology
GWAS of 550 case-parent trios with non-syndromic cleft palate identified genome-wide significant gene-environment interactions with maternal exposures. MLLT3 and SMC2 on chromosome 9 showed multiple SNPs associated with increased CP risk when mothers consumed alcohol periconceptually (MLLT3 rs4621895 p=1.9×10⁻⁷, SMC2 rs1536895 p=1.53×10⁻⁸). TBK1 and ZNF236 showed interaction with maternal smoking (TBK1 rs7969932 p=7.86×10⁻⁸, ZNF236 rs372075 p=6.75×10⁻⁸), while BAALC SNPs showed protective effects with multivitamin supplementation.
About FAF1
Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. [provided by RefSeq, Jul 2008]
View all FAF1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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