rs2073485

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

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ClinVar annotation

Benign★☆☆☆
1 submitter
View on ClinVar →
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Research that mentions this SNP (2)

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Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians
AssociationN=993Jane C. Figueiredo et al.(2014)· American Journal of Medical Genetics Part A

A targeted genome-wide study examining SNPs in three understudied populations (260 children with orofacial clefts from the DRC, Vietnam, and Philippines) confirmed four cleft susceptibility regions: 1q32.2 (IRF6), 10q25.3 (VAX1), 17q22 (NOG), and 15q13.3. Notable findings include rs10787738 near VAX1 (P=4.98E-03) and rs7987165 on chromosome 13 (P=2.2E-05) in meta-analysis, with risk alleles varying by population and no significant associations found in African populations.

Traits studied:Cleft lip with or without cleft palateNon-syndromic cleft lipNon-syndromic cleft palateOrofacial clefts
PubMedDOIMetascience Observatory
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Evidence of gene–environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate
AssociationN=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).

Traits studied:Cleft lip with or without cleft palate (non-syndromic)Van der Woude syndrome
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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