rs1014867
This is a variant in the FAT4 gene that changes a proline to an serine.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Nonsynonymous polymorphisms in FAT4 gene are associated with the risk of esophageal cancer in an Eastern Chinese populationAssociationN=4,412Jiangbo Du et al.(2013)· International Journal of Cancer
A case-control study of 2,139 esophageal cancer cases and 2,273 controls in a Chinese population identified two nonsynonymous FAT4 polymorphisms associated with esophageal cancer risk: rs1014867 (Pro4972Ser) with a protective T allele (OR=0.77, p=1.42×10⁻³), and rs1039808 (Ala807Val) with a borderline protective association (OR=0.90, p=0.050). A significant interaction between rs1039808 and alcohol drinking on esophageal cancer risk was detected (p=0.013), with the A allele showing protective effects in non-drinkers but increased risk in drinkers.
About FAT4
The protein encoded by this gene is a member of the protocadherin family. This gene may play a role in regulating planar cell polarity (PCP). Studies in mice suggest that loss of PCP signaling may cause cystic kidney disease, and mutations in this gene have been associated with Van Maldergem Syndrome 2. Alternatively spliced transcript variants have been noted for this gene. [provided by RefSeq, Mar 2014]
View all FAT4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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