rs2235373

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

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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →
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Research that mentions this SNP (2)

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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
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Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms
AssociationN=297Jae Woong Sull et al.(2009)· Human Genetics

This case-parent trio study of 297 CL/P (cleft lip with/without palate) cases from four populations examined associations between TGFA gene markers and cleft risk. Two SNPs showed significant evidence of excess maternal transmission (rs3821261: P=0.004, OR(imprinting)=4.17; rs3771475: P=0.027, OR(imprinting)=2.44), suggesting parent-of-origin effects. Additionally, several TGFA SNPs showed suggestive evidence of gene-environment interactions with maternal smoking, alcohol consumption, and vitamin supplementation, and possible gene-gene interaction with IRF6 variant rs2235373 (combined OR=5.66).

Traits studied:Cleft lip with or without cleft palate (CL/P)Non-syndromic isolated cleft lip/palate
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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