rs11672691
badMag 4.5This is a intron variant variant in the PCAT19 gene.
Key Literature Trait Associations
Aggressive Prostate Cancer
rs11672691 is an intronic variant in PCAT19, a long non-coding RNA gene at 19q13. In a meta-analysis of 5,953 aggressive prostate cancer cases and 11,463 controls with replication across 29 studies (N=49,121), the G allele was associated with aggressive prostate cancer (OR 1.12, P=1.4e-8). The G allele enhances binding of the oncogenic transcription factor HOXA2 to an enhancer element, upregulating PCAT19 and CEACAM21 expression, promoting tumor cell growth and disease progression.
Prostate cancer
Beyond aggressive disease, the rs11672691-G allele is also associated with overall prostate cancer risk across all grades and stages. The large PRACTICAL Consortium GWAS by Schumacher et al. (2018), encompassing >140,000 men, confirmed genome-wide significant association with overall prostate cancer (OR≈1.08–1.10, p=2×10⁻¹²–2×10⁻²³). Shui et al. (2014) additionally reported that the G risk allele was associated with increased prostate cancer-specific mortality (p<0.05) in a prospective cohort of 10,487 cases followed for a median 8.3 years, distinguishing rs11672691 from most other prostate cancer susceptibility loci which show no prognostic signal.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
prostate carcinoma
testosterone measurement
▶Research that mentions this SNP (5)
▶Genome-wide association of familial prostate cancer cases identifies evidence for a rare segregating haplotype at 8q24.21AssociationN=3,893Teerlink CC et al.(2016)· Human Genetics
This genome-wide association study of 2511 familial prostate cancer cases and 1382 controls identified significant associations in six regions previously linked to prostate cancer risk. Most notably, rs138042437 at 8q24.21 achieved an exceptionally large effect size (OR=13.3, p=1.7e-8) and demonstrated strong co-segregation with disease in 116 affected relatives (p=8.5e-11). The study identified a rare segregating haplotype at 8q24.21 containing three SNPs (rs183373024, rs188140481, rs138042437) that characterized a prostate cancer predisposition locus.
▶Associations of prostate cancer risk variants with disease aggressiveness: results of the NCI-SPORE Genetics Working Group analysis of 18,343 casesAssociationN=18,343Brian T. Helfand et al.(2015)· Human Genetics
A case-case association study of 18,343 prostate cancer patients (16,515 European, 1,828 African-American) evaluating 36 validated PC-risk SNPs found that rs2735839 (G allele) on chromosome 19q13 in the KLK3 gene was significantly and inversely associated with aggressive disease and high Gleason scores in both populations (p = 9.343 × 10⁻⁸ overall, p = 1.042 × 10⁻⁵ European, p = 2.0 × 10⁻⁴ African-American).
▶A genome-wide association study of prostate cancer in West African menAssociationN=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.
▶Common variants at 8q24 are associated with prostate cancer risk in Taiwanese menReviewMarcelo Chen et al.(2010)· The Prostate
Systematic literature review of 22 GWAS studies identifying 53 SNPs in 29 genomic loci associated with aggressive and progressive prostate cancer, particularly in low-grade disease. Functional analysis of 21 SNPs revealed involvement in the MYC/POU5F1B pathway (rs1447295, rs6983267, rs4242382), androgen receptor pathway (rs17021918, rs10486567, rs7679673, rs2939244), and PSA/KLK3 biomarkers (rs2735839, rs10993994). SNPs were integrated with somatic copy number aberration data, with 17 SNPs found in regions of recurrent CNAs predictive of progression; notably, rs1447295 and 7 other SNPs cluster in 8q24 gain regions harboring MYC.
▶Association of genetic polymorphisms at 8q24 with the risk of prostate cancer in a Japanese populationReviewNaoki Terada et al.(2008)· The Prostate
This systematic review identified 53 unique SNPs in 29 genomic loci associated with aggressive prostate cancer progression and poor outcomes from GWAS studies. Functional studies implicated 21 SNPs as modulating the androgen receptor pathway, MYC oncogene, and PSA-related genes, with rs1447295 and rs10993994 being replicated across multiple populations and associated with unfavorable pathological features in low-grade prostate cancer.
Gene information from NCBI Gene. Variant classifications from ClinVar.
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