SRD5A1, steroid 5 alpha-reductase 1, 6715

N. diseases: 48; N. variants: 7
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs472402
rs472402
Entrez Id: 6715
Gene Symbol: SRD5A1
SRD5A1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE Accounting for multiple testing, a single SNP in <i>SRD5A1</i> gene (rs472402) significantly modified the finasteride effect on high-grade prostate cancer (Gleason score > 6) in PCPT (family-wise error rate < 0.05). 30538099 2019
dbSNP: rs472402
rs472402
Entrez Id: 6715
Gene Symbol: SRD5A1
SRD5A1
CUI: C0600139
Disease:
Prostate carcinoma
0.020 GeneticVariation BEFREE Accounting for multiple testing, a single SNP in <i>SRD5A1</i> gene (rs472402) significantly modified the finasteride effect on high-grade prostate cancer (Gleason score > 6) in PCPT (family-wise error rate < 0.05). 30538099 2019
dbSNP: rs472402
rs472402
Entrez Id: 6715
Gene Symbol: SRD5A1
SRD5A1
CUI: C0600139
Disease:
Prostate carcinoma
0.020 GeneticVariation BEFREE There were significant associations of genetic polymorphisms in steroid 5α-reductase 1 (SRD5A1) (reference SNPs: rs3736316, rs3822430, rs1560149, rs248797, and rs472402) and SRD5A2 (rs2300700) with the risk of high-grade prostate cancer in the placebo arm of the Prostate Cancer Prevention Trial; 2 SNPs were significantly associated with an increased risk (SRD5A1 rs472402 [odds ratio, 1.70; 95% confidence interval, 1.05-2.75; Ptrend = .03] and SRD5A2 rs2300700 [odds ratio, 1.94; 95% confidence interval, 1.19-3.18; Ptrend = .01]). 27164191 2016
dbSNP: rs472402
rs472402
Entrez Id: 6715
Gene Symbol: SRD5A1
SRD5A1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.020 GeneticVariation BEFREE There were significant associations of genetic polymorphisms in steroid 5α-reductase 1 (SRD5A1) (reference SNPs: rs3736316, rs3822430, rs1560149, rs248797, and rs472402) and SRD5A2 (rs2300700) with the risk of high-grade prostate cancer in the placebo arm of the Prostate Cancer Prevention Trial; 2 SNPs were significantly associated with an increased risk (SRD5A1 rs472402 [odds ratio, 1.70; 95% confidence interval, 1.05-2.75; Ptrend = .03] and SRD5A2 rs2300700 [odds ratio, 1.94; 95% confidence interval, 1.19-3.18; Ptrend = .01]). 27164191 2016
dbSNP: rs248793
rs248793
Entrez Id: 6715;54888
Gene Symbol: SRD5A1;NSUN2
SRD5A1;NSUN2
CUI: C0001973
Disease:
Alcoholic Intoxication, Chronic
0.020 GeneticVariation BEFREE We previously reported that a common nonsynonymous polymorphism, AKR1C3 2 in the gene encoding the enzyme 3α-HSD2/17β-HSD5, and a synonymous single nucleotide polymorphism (SNP), rs248793, in SRD5A1, which encodes 5α-reductase, were associated with alcohol dependence (AD). 24838369 2014
dbSNP: rs3797179
rs3797179
Entrez Id: 6715
Gene Symbol: SRD5A1
SRD5A1
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.020 GeneticVariation BEFREE Three variants, rs3797179 (SRD5A1), rs12473543 (POMC), and rs1501299 (ADIPOQ), were nominally associated with PCOS. 23375202 2013
dbSNP: rs248793
rs248793
Entrez Id: 6715;54888
Gene Symbol: SRD5A1;NSUN2
SRD5A1;NSUN2
CUI: C0001973
Disease:
Alcoholic Intoxication, Chronic
0.020 GeneticVariation BEFREE The minor allele for both SNPs was more common among controls than subjects with AD: SRD5A1 rs248793 C-allele (χ(2)(1) = 7.6, p = 0.006) and AKR1C3 rs12529 G-allele (χ(2)(1) = 14.6, p = 0.0001). 21323680 2011
dbSNP: rs3797179
rs3797179
Entrez Id: 6715
Gene Symbol: SRD5A1
SRD5A1
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.020 GeneticVariation BEFREE We analyzed one single nucleotide polymorphism (SNP) (rs523349) of the isoform 2 (SRD5A2) and one haplotype of the isoform 1 (SRD5A1), consisting of the two SNPs rs39848 and rs3797179, in 249 women with PCOS and 226 healthy women using a 5'-exonuclease-assay. 21530059 2011
dbSNP: rs3797177
rs3797177
Entrez Id: 6715
Gene Symbol: SRD5A1
SRD5A1
CUI: C1704272
Disease:
Benign Prostatic Hyperplasia
0.010 GeneticVariation BEFREE The aim of our study was to determine the frequency of the <i>SRD5A1</i> (rs6884552, rs3797177) and <i>SRD5A2</i> (rs523349, rs12470143) genes' polymorphisms, and to assess the relationships between the genotypes of the tested mutations, and the levels of biochemical and hormonal parameters in patients with BPH. 29084161 2017
dbSNP: rs6884552
rs6884552
Entrez Id: 6715
Gene Symbol: SRD5A1
SRD5A1
CUI: C1704272
Disease:
Benign Prostatic Hyperplasia
0.010 GeneticVariation BEFREE The aim of our study was to determine the frequency of the <i>SRD5A1</i> (rs6884552, rs3797177) and <i>SRD5A2</i> (rs523349, rs12470143) genes' polymorphisms, and to assess the relationships between the genotypes of the tested mutations, and the levels of biochemical and hormonal parameters in patients with BPH. 29084161 2017
dbSNP: rs3822430
rs3822430
Entrez Id: 6715
Gene Symbol: SRD5A1
SRD5A1
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE Several SNPs (SRD5A1 rs3822430, SRD5A2 rs2300700, CYP3A43 rs800672, and CYP19 rs700519; Ptrend < .05) were significantly associated with both circulating hormone levels and prostate cancer risk. 27164191 2016
dbSNP: rs3822430
rs3822430
Entrez Id: 6715
Gene Symbol: SRD5A1
SRD5A1
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE Several SNPs (SRD5A1 rs3822430, SRD5A2 rs2300700, CYP3A43 rs800672, and CYP19 rs700519; Ptrend < .05) were significantly associated with both circulating hormone levels and prostate cancer risk. 27164191 2016
dbSNP: rs3736316
rs3736316
Entrez Id: 6715
Gene Symbol: SRD5A1
SRD5A1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Breast cancer risk associated with duration of combined therapy was significantly modified by SRD5A1_rs3736316, showing a reduced risk elevation in carriers of the minor allele (p (interaction,empirical-Bayes) = 0.006 using the empirical-Bayes method, p (interaction,logistic regression) = 0.013 using logistic regression). 21947678 2012
dbSNP: rs3736316
rs3736316
Entrez Id: 6715
Gene Symbol: SRD5A1
SRD5A1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Breast cancer risk associated with duration of combined therapy was significantly modified by SRD5A1_rs3736316, showing a reduced risk elevation in carriers of the minor allele (p (interaction,empirical-Bayes) = 0.006 using the empirical-Bayes method, p (interaction,logistic regression) = 0.013 using logistic regression). 21947678 2012