rs1044516
This is a regulatory region variant variant in the IRF6 gene.
▶ClinVar annotation
Orofacial cleft 6, susceptibility to (OFC6); Van der Woude syndrome 1
View on ClinVar →▶Research that mentions this SNP (1)
▶Evidence of gene–environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palateAssociationN=978Tao Wu et al.(2010)· Human Genetics
Gene-environment interaction study of 326 Chinese case-parent trios examining IRF6 gene variants and non-syndromic cleft lip with/without cleft palate (CL/P). After Bonferroni correction, 14 SNPs showed significant association with CL/P. Evidence of G×E interaction was found for maternal multivitamin supplementation (rs2076153 nominal P=0.019, rs17015218 nominal P=0.012) and environmental tobacco smoke (rs1044516 P=0.041, OR=1.96).
About IRF6
This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]
View all IRF6 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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