rs2121875

This is a regulatory region variant variant in the FGF10 gene.

▶

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 1.05

p 1.0e-8

N 140,254

Large GWAS

European

Kote-Jarai Z et al. “Seven prostate cancer susceptibility loci identified by a multi-stage genome-wide association study.” Nature Genetics 43(8):785-91 (2011)

Allele C

OR 1.05

p 4.0e-8

N 13,560

Large GWAS

multi-ancestry

▶

ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

View on ClinVar →

▶

Research that mentions this SNP (1)

▶

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)

PubMed DOI Metascience Observatory

About FGF10

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein exhibits mitogenic activity for keratinizing epidermal cells, but essentially no activity for fibroblasts, which is similar to the biological activity of FGF7. Studies of the mouse homolog of suggested that this gene is required for embryonic epidermal morphogenesis including brain development, lung morphogenesis, and initiation of lim bud formation. This gene is also implicated to be a primary factor in the process of wound healing. [provided by RefSeq, Jul 2008]