rs4919743

This is a intron variant variant in the KRT8 gene.

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GWAS Catalog Trait Associations (3)

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

prostate carcinoma

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.18
p 3.0e-67
N 573,692
Major Consortium StudyLarge GWAS
multi-ancestry

prostate cancer

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.17
p 9.0e-36
N 367,640
Major Consortium StudyLarge GWAS
multi-ancestry

drug use measurement, prostate cancer

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.17
p 1.0e-15
N 367,640
Major Consortium StudyLarge GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Putative Prostate Cancer Risk SNP in an Androgen Receptor‐Binding Site of the Melanophilin Gene Illustrates Enrichment of Risk SNPs in Androgen Receptor Target Sites
FunctionalN=126Huajie Bu et al.(2016)· Human Mutation

This study integrated ChIP-seq analysis of androgen receptor-binding sites in prostate cancer cells with GWAS data and found that rs11891426:T>G in the melanophilin gene (MLPH) lies within a functional AR-binding motif, with the risk G allele attenuating transcriptional activity. Expression analysis showed MLPH was significantly lower in tumors carrying the G allele, suggesting a tumor-suppressive role weakened by this functional variant.

Traits studied:Biochemical recurrencePathological stageProstate cancerProstate cancer susceptibilityTumor grade (Gleason score)
PubMedDOIMetascience Observatory

About KRT8

This gene is a member of the type II keratin family clustered on the long arm of chromosome 12. Type I and type II keratins heteropolymerize to form intermediate-sized filaments in the cytoplasm of epithelial cells. The product of this gene typically dimerizes with keratin 18 to form an intermediate filament in simple single-layered epithelial cells. This protein plays a role in maintaining cellular structural integrity and also functions in signal transduction and cellular differentiation. Mutations in this gene cause cryptogenic cirrhosis. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

View all KRT8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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