rs8008270

This is a intron variant variant in the FERMT2 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

prostate carcinoma

Schumacher FR et al. “Association analyses of more than 140,000 men identify 63 new prostate cancer susceptibility loci.” Nature Genetics 50(7):928-936 (2018)
Allele C
OR 1.09
p 6.0e-16
N 140,254
Large GWAS
European
Emami NC et al. “A Large-Scale Association Study Detects Novel Rare Variants, Risk Genes, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility.” Cancer Research 81(7):1695-1703 (2021)
Allele C
OR 1.11
p 9.0e-9
N 208,253
Large GWAS
European
Eeles RA et al. “Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.” Nature Genetics 45(4):385-91, 391e1-2 (2013)
Allele C
OR 1.12
p 2.0e-14
N 22,548
Large GWAS
European
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Research that mentions this SNP (1)

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A genome-wide association study of prostate cancer in West African men
AssociationN=932Michael Blaise Cook et al.(2014)· Human Genetics

Genome-wide association study of 474 prostate cancer cases and 458 controls from West African men identified a novel prostate cancer susceptibility locus at 10p14 marked by rs7918885 (p=1.29×10⁻⁷), localized to an intron of the lncRNA gene RP11-543F8.2. A stratified analysis by Gleason score revealed additional associations including rs34575154 in PCDHA1 at 5q31.3 (p=3.66×10⁻⁸) for high-grade disease and rs985081 at Xq28 (p=8.66×10⁻⁹) for low-grade disease. Validation in the African Ancestry Prostate Cancer GWAS Consortium showed limited replication, with only rs2993385 at 10p14 reaching nominal significance (p<0.05), highlighting population-specific genetic architecture.

Traits studied:Prostate cancerProstate cancer (high-grade/Gleason score ≥7)Prostate cancer (low-grade/Gleason score <7)
PubMedDOIMetascience Observatory

About FERMT2

Enables several functions, including phosphatidylinositol-3,4,5-trisphosphate binding activity; protein serine/threonine kinase binding activity; and type I transforming growth factor beta receptor binding activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of cellular component biogenesis; and positive regulation of intracellular signal transduction. Acts upstream of or within cell adhesion and protein localization to cell junction. Located in several cellular components, including adherens junction; cytoplasmic side of plasma membrane; and focal adhesion. Biomarker of acute myeloid leukemia. [provided by Alliance of Genome Resources, Jul 2025]

View all FERMT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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