rs3771494

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

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Research that mentions this SNP (1)

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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 TGFA

This gene encodes a growth factor that is a ligand for the epidermal growth factor receptor, which activates a signaling pathway for cell proliferation, differentiation and development. This protein may act as either a transmembrane-bound ligand or a soluble ligand. This gene has been associated with many types of cancers, and it may also be involved in some cases of cleft lip/palate. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

View all TGFA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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