rs212016
This is a intron variant variant in the FHIT gene.
▶Research that mentions this SNP (1)
▶Genome wide study of maternal and parent‐of‐origin effects on the etiology of orofacial cleftsAssociationN=2,458Min Shi et al.(2012)· American Journal of Medical Genetics Part A
This genome-wide association study examined maternal and parent-of-origin genetic effects on orofacial clefts in over 2,000 case-parent triads from an international consortium. While 15 SNPs showed suggestive maternal effects (p<10⁻⁵) and 18 SNPs showed parent-of-origin effects (p<10⁻⁵), including rs17138064 (p=5×10⁻⁷) in the cleft palate group, none survived genome-wide multiple testing correction. The study concluded that neither maternal genotype nor parent-of-origin effects play major roles in isolated orofacial clefting.
About FHIT
The protein encoded by this gene is a P1-P3-bis(5'-adenosyl) triphosphate hydrolase involved in purine metabolism. This gene encompasses the common fragile site FRA3B on chromosome 3, where carcinogen-induced damage can lead to translocations and aberrant transcripts. In fact, aberrant transcripts from this gene have been found in about half of all esophageal, stomach, and colon carcinomas. The encoded protein is also a tumor suppressor, as loss of its activity results in replication stress and DNA damage. [provided by RefSeq, Aug 2017]
View all FHIT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…