rs62113214

This is a upstream gene variant variant in the KLK3 gene.

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GWAS Catalog Trait Associations (2)

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

kallikrein-4 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele G

OR 0.08

p 6.0e-15

N 47,745

Large GWAS

European

prostatitis

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 T

OR 0.31

p 1.0e-11

N 568,171

Major Consortium StudyLarge GWAS

multi-ancestry

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Research that mentions this SNP (1)

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Fine mapping the KLK3 locus on chromosome 19q13.33 associated with prostate cancer susceptibility and PSA levels

AssociationN=6,860Parikh H. et al.(2011)· Human Genetics

Fine mapping study of the KLK3 locus (chromosome 19q13.33) in 3,522 prostate cancer cases and 3,338 controls identified three highly correlated SNPs (rs17632542, rs62113212, rs62113214) associated with nonaggressive prostate cancer (P = 4.72×10⁻⁵ to 5.74×10⁻⁵, OR = 0.68-0.69 per allele). The previously reported marker rs2735839 showed no significant association (P = 0.20). Baseline PSA levels were 43.7% lower in carriers of minor alleles at the three SNPs (P = 9.70×10⁻⁵), suggesting germline KLK3 variants influence PSA screening-detected prostate cancer.

Traits studied:Advanced prostate cancerNonaggressive prostate cancerProstate cancerProstate-specific antigen (PSA) levels

PubMed DOI Metascience Observatory

About KLK3

Kallikreins are a subgroup of serine proteases having diverse physiological functions. Growing evidence suggests that many kallikreins are implicated in carcinogenesis and some have potential as novel cancer and other disease biomarkers. The gene is one of the fifteen kallikrein subfamily members located in a cluster on chromosome 19. It encodes a single-chain glycoprotein, a protease which is synthesized in the epithelial cells of the prostate gland, and is present in seminal plasma. It is thought to function normally in the liquefaction of seminal coagulum, presumably by hydrolysis of the high molecular mass seminal vesicle protein. The serum level of this protein, called PSA in the clinical setting, is useful in the diagnosis and monitoring of prostatic carcinoma. Alternate splicing of this gene generates several transcript variants encoding different isoforms. [provided by RefSeq, Dec 2019]