rs9282858

This is a coding sequence variant variant in the SRD5A2 gene.

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GWAS Catalog Trait Associations (7)

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

X-11444 measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele T
OR 0.68
p 5.0e-66
N 8,206
Large GWAS
European
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele T
OR 0.46
p 5.0e-14
N 4,894
Large GWAS
European

X-11470 measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele T
OR 0.59
p 7.0e-46
N 8,134
Large GWAS
European
Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele T
OR 0.46
p 7.0e-13
N 4,853
Large GWAS
European

alopecia

Hagenaars SP et al. “Genetic prediction of male pattern baldness.” Plos Genetics 13(2):e1006594 (2017)
Allele T
OR 0.16
p 2.0e-23
N 52,874
Large GWAS
European

androsterone glucuronide measurement

Chen Y et al. “Genomic atlas of the plasma metabolome prioritizes metabolites implicated in human diseases.” Nature Genetics 55(1):44-53 (2023)
Allele T
OR 0.34
p 3.0e-20
N 7,980
Large GWAS
European

balding measurement

Heilmann-Heimbach S et al. “Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness.” Nature Communications 8:14694 (2017)
Allele T
OR 0.51
p 9.0e-18
N 22,518
Meta-analysisLarge GWAS
European
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ClinVar annotation

Uncertain Significance★★★☆
8 submitters5 publications

3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (PPSH); SRD5A2 POLYMORPHISM; SRD5A2-related disorder

View on ClinVar →
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Research that mentions this SNP (2)

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Joint effects of inflammation and androgen metabolism on prostate cancer severity
AssociationN=1,090Rebbeck TR et al.(2008)· International Journal of Cancer

A case-control study of 1,090 Caucasian prostate cancer cases examined interactions between genes involved in androgen metabolism/inflammation and benign prostatic hyperplasia (BPH) history on prostate cancer severity. Significant interactions were observed with CYP3A43 P340A (rs680055) and BPH on both Gleason grade (OR=1.82, 95% CI: 1.15–2.87; interaction p=0.026) and tumor stage (OR=3.50, 95% CI: 1.21–10.17; interaction p=0.017), suggesting that androgen metabolism and inflammatory phenotypes act together in determining prostate cancer severity.

Traits studied:Benign prostatic hyperplasiaGleason gradeProstate cancer severityTumor stage
PubMedDOIMetascience Observatory
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Genetic polymorphisms in CYP17, CYP3A4, CYP19A1, SRD5A2, IGF‐1, and IGFBP‐3 and prostate cancer risk in African‐American men: The Flint Men's Health Study
AssociationN=473Aruna V. Sarma et al.(2008)· The Prostate

A population-based case-control study of 473 African-American men (131 prostate cancer cases, 342 controls) examined SNP associations in six genes involved in androgen and IGF-1 pathways. Significant associations were found between prostate cancer and CYP17 SNPs rs6163, rs6162, and rs743572, with heterozygotes showing decreased risk (P=0.0014, 0.0018, 0.0028). Suggestive evidence for association was found between IGF-1 SNP rs5742657 and prostate cancer (P=0.058 genotype; P=0.02 allelic test). No significant associations were observed for SNPs in CYP3A4, CYP19A1, SRD5A2, or IGFBP-3 genes.

Traits studied:Prostate cancer
PubMedDOIMetascience Observatory

About SRD5A2

This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]

View all SRD5A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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