rs1856161

This is a regulatory region variant variant in the IRF6 gene.

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ClinVar annotation

Benign★☆☆☆
2 submitters1 publication

Orofacial cleft 6, susceptibility to (OFC6); Van der Woude syndrome 1

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Research that mentions this SNP (1)

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The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population
AssociationN=276Gillian R. Diercks et al.(2009)· The Laryngoscope

This family-based linkage and association study investigated the role of IRF6 gene variants in nonsyndromic cleft lip with or without cleft palate (NSCLP) in a Honduran population (276 individuals from 59 families). Three SNPs (rs1856161, rs2235371, rs2235377) in IRF6 showed significant association with NSCLP with p-values ≤0.05, with the strongest support for the haplotype TTC (p=0.006 when cleft palate-only cases excluded). This is the first genetic study of cleft etiology in Honduras and confirms IRF6's role in cleft susceptibility across diverse populations.

Traits studied:Cleft lip onlyCleft lip with cleft palateCleft palate onlyNonsyndromic cleft lip with or without cleft palate (NSCLP)
PubMedDOIMetascience Observatory

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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