rs17592236

This is a 3 prime utr variant variant in the FOXO1 gene.

ClinVar annotation

Benign★★★
2 submitters1 publication
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Research that mentions this SNP (1)

Predisposition to Behçet’s disease and VKH syndrome by genetic variants of miR-182
AssociationN=3,520Hongsong Yu et al.(2014)· Journal of Molecular Medicine

A two-stage case-control study in a Chinese Han population examined 820 Behçet's disease (BD) and 900 VKH syndrome patients versus 1,800 controls. The miR-182/rs76481776 SNP showed significantly decreased CC genotype and C allele frequencies in BD (OR=0.55-0.58, P=3.36×10⁻⁴ to 3.25×10⁻⁷) and VKH patients (OR=0.53-0.57, P=1.11×10⁻⁴ to 7.89×10⁻⁸). Other SNPs in miR-27a, FoxO1, and IL2RA showed no significant associations. Functional analysis revealed increased miR-182 expression in TT/CT genotypes compared to CC in anti-CD3/CD28 antibody-stimulated CD4+ T cells (P=2.1×10⁻²).

Traits studied:Behçet's diseaseUveitisVogt-Koyanagi-Harada syndrome

About FOXO1

This gene belongs to the forkhead family of transcription factors which are characterized by a distinct forkhead domain. The specific function of this gene has not yet been determined; however, it may play a role in myogenic growth and differentiation. Translocation of this gene with PAX3 has been associated with alveolar rhabdomyosarcoma. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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