rs10510837
This is a regulatory region variant variant in the FHIT gene.
▶Research that mentions this SNP (1)
▶Variants in several genomic regions associated with asperger disorderAssociationN=860Salyakina D. et al.(2010)· Autism Research
Genome-wide association study in 124 families with Asperger disorder (discovery) and 110 families (validation) identified novel susceptibility loci on 5q21.1 (P = 9.7 × 10⁻⁷, rs4703129) and 15q22.1-q22.2 (P = 7.3 × 10⁻⁶, rs4775101) associated with Asperger disorder. The study confirmed three regions previously linked to Asperger disorder in Finnish families (3p14.2, 3q25-26, 3p23) and identified 26 candidate genes, suggesting that Asperger disorder shares both ASD-related genetic risk factors as well as unique genetic risk factors.
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.
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