SRD5A2

Summary

Gene Symbol: SRD5A2
Description: steroid 5 alpha-reductase 2
Alias: 3-oxo-5-alpha-steroid 4-dehydrogenase 2, 5 alpha-SR2, S5AR 2, SR type 2, steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2), type II 5-alpha reductase
Species: human
Products:     SRD5A2

Top Publications

  1. Allen N, Forrest M, Key T. The association between polymorphisms in the CYP17 and 5alpha-reductase (SRD5A2) genes and serum androgen concentrations in men. Cancer Epidemiol Biomarkers Prev. 2001;10:185-9 pubmed
    ..been identified in the 17-hydroxylase cytochrome P450 gene (CYP17) and the steroid 5alpha-reductase type II gene (SRD5A2), two genes that are involved in the biosynthesis and metabolism of androgens in men...
  2. Mononen N, Ikonen T, Syrjakoski K, Matikainen M, Schleutker J, Tammela T, et al. A missense substitution A49T in the steroid 5-alpha-reductase gene (SRD5A2) is not associated with prostate cancer in Finland. Br J Cancer. 2001;84:1344-7 pubmed
    Prostatic steroid 5-alpha-reductase gene (SRD5A2) encodes a critical enzyme involved in the conversion of testosterone to dihydrotestosterone...
  3. Margiotti K, Sangiuolo F, De Luca A, Froio F, Pearce C, Ricci Barbini V, et al. Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients. Dis Markers. 2000;16:147-50 pubmed
    We have investigated the contributions of three polymorphic markers in the SRD5A2 gene to prostate cancer in a group of Italian patients...
  4. Latil A, Azzouzi R, Cancel G, Guillaume E, Cochan Priollet B, Berthon P, et al. Prostate carcinoma risk and allelic variants of genes involved in androgen biosynthesis and metabolism pathways. Cancer. 2001;92:1130-7 pubmed
    ..were genotyped for previously described polymorphisms in the androgen receptor (AR), 5alpha-reductase type II (SRD5A2), p450c17 (CYP17), and aromatase (CYP19) genes...
  5. Hsing A, Chen C, Chokkalingam A, Gao Y, Dightman D, Nguyen H, et al. Polymorphic markers in the SRD5A2 gene and prostate cancer risk: a population-based case-control study. Cancer Epidemiol Biomarkers Prev. 2001;10:1077-82 pubmed
    It has been suggested that the activity of the steroid 5alpha-reductase type II enzyme (encoded by the SRD5A2 gene) may be associated with prostate cancer risk and that population differences in this enzyme's activity may account for part ..
  6. Lindstrom S, Wiklund F, Adami H, Bälter K, Adolfsson J, Gronberg H. Germ-line genetic variation in the key androgen-regulating genes androgen receptor, cytochrome P450, and steroid-5-alpha-reductase type 2 is important for prostate cancer development. Cancer Res. 2006;66:11077-83 pubmed
    ..hormone-regulating genes androgen receptor (AR), cytochrome P450 (CYP17), and steroid-5-alpha-reductase type 2 (SRD5A2)...
  7. Beuten J, Gelfond J, Franke J, Weldon K, Crandall A, Johnson Pais T, et al. Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer. Cancer Epidemiol Biomarkers Prev. 2009;18:1869-80 pubmed publisher
    ..cancer risk and the genetic variants of 12 key genes within the steroid hormone pathway (CYP17, HSD17B3, ESR1, SRD5A2, HSD3B1, HSD3B2, CYP19, CYP1A1, CYP1B1, CYP3A4, CYP27B1, and CYP24A1)...
  8. Audet Walsh E, Bellemare J, Nadeau G, Lacombe L, Fradet Y, Fradet V, et al. SRD5A polymorphisms and biochemical failure after radical prostatectomy. Eur Urol. 2011;60:1226-34 pubmed publisher
    ..variations in the steroid-5?-reductase, ?-polypeptide 1 (SRD5A1) and steroid-5?-reductase, ?-polypeptide 2 (SRD5A2) genes and BCR...
  9. Hackel C, Oliveira L, Ferraz L, Tonini M, Silva D, Toralles M, et al. New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2. J Mol Med (Berl). 2005;83:569-76 pubmed
    Mutations of the steroid 5alpha-reductase type 2 (SRD5A2) gene in 46,XY subjects cause masculinization defects of varying degrees, due to reduced or impaired enzymatic activity...

More Information

Publications153 found, 100 shown here

  1. Goodarzi M, Shah N, Antoine H, Pall M, Guo X, Azziz R. Variants in the 5alpha-reductase type 1 and type 2 genes are associated with polycystic ovary syndrome and the severity of hirsutism in affected women. J Clin Endocrinol Metab. 2006;91:4085-91 pubmed
    ..in androgen action, polymorphisms in the genes for the two isoforms of 5alpha-reductase (SRD5A1 and SRD5A2) have not been evaluated as risk factors for polycystic ovary syndrome (PCOS)...
  2. Onen I, Ekmekci A, Eroglu M, Polat F, Biri H. The association of 5alpha-reductase II (SRD5A2) and 17 hydroxylase (CYP17) gene polymorphisms with prostate cancer patients in the Turkish population. DNA Cell Biol. 2007;26:100-7 pubmed
    ..It is thought that polymorphisms of 5alpha-reductase II (SRD5A2) and 17 hydroxylase (CYP17) genes are likely to increase susceptibility...
  3. Pearce C, Van Den Berg D, Makridakis N, Reichardt J, Ross R, Pike M, et al. No association between the SRD5A2 gene A49T missense variant and prostate cancer risk: lessons learned. Hum Mol Genet. 2008;17:2456-61 pubmed publisher
    The steroid 5-alpha reductase type II gene (SRD5A2) encodes the enzyme which converts testosterone (T) to the more active androgen dihydrotestosterone...
  4. Setlur S, Chen C, Hossain R, Ha J, Van Doren V, Stenzel B, et al. Genetic variation of genes involved in dihydrotestosterone metabolism and the risk of prostate cancer. Cancer Epidemiol Biomarkers Prev. 2010;19:229-39 pubmed publisher
    ..4-6.7) when compared with men carrying neither (P = 0.005). Controls with the AA genotype on rs7594951 (SRD5A2) tended toward higher serum DHT levels (P = 0.03)...
  5. Fernandez Cancio M, Audi L, Andaluz P, Toran N, Piro C, Albisu M, et al. SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation. Int J Androl. 2011;34:e526-35 pubmed publisher
    ..AR gene was analysed in all patients as the first candidate gene, yielding a mutation in 42.5% of cases and SRD5A2 gene was analysed as the second candidate gene, resulting in the characterization of 10 different mutations (p...
  6. Labrie F, Sugimoto Y, Luu The V, Simard J, Lachance Y, Bachvarov D, et al. Structure of human type II 5 alpha-reductase gene. Endocrinology. 1992;131:1571-3 pubmed
    ..3, 2.0 and 3.0 kb. Analysis of primer extension products by polyacrylamide gel electrophoresis as well as by subcloning and sequencing reveals a start site located 71 nucleotides upstream the ATG initiating codon. ..
  7. Thigpen A, Davis D, Milatovich A, Mendonca B, Imperato McGinley J, Griffin J, et al. Molecular genetics of steroid 5 alpha-reductase 2 deficiency. J Clin Invest. 1992;90:799-809 pubmed
    ..The 5 alpha-reductase type 2 gene (gene symbol SRD5A2) was cloned and shown to contain five exons and four introns...
  8. Andersson S, Berman D, Jenkins E, Russell D. Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism. Nature. 1991;354:159-61 pubmed
    ..These results verify the existence of at least two 5 alpha-reductases in man and provide insight into a fundamental hormone-mediated event in male sexual differentiation. ..
  9. Makridakis N, Ross R, Pike M, Crocitto L, Kolonel L, Pearce C, et al. Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA. Lancet. 1999;354:975-8 pubmed
    ..Cohort Study) for a mis-sense substitution in the human prostatic (or type II) steroid 5alpha-reductase (SRD5A2) gene, the product of which controls metabolic activation of testosterone to dihydrotestosterone...
  10. Nam R, Toi A, Vesprini D, Ho M, Chu W, Harvie S, et al. V89L polymorphism of type-2, 5-alpha reductase enzyme gene predicts prostate cancer presence and progression. Urology. 2001;57:199-204 pubmed
    The valine (V) to leucine (L) polymorphism of the SRD5A2 gene is associated with 5-alpha reductase-2 activity; patients with the V allele have high activity and patients with the L allele have low activity...
  11. Scariano J, Treat E, Alba F, Nelson H, Ness S, Smith A. The SRD5A2 V89L polymorphism is associated with severity of disease in men with early onset prostate cancer. Prostate. 2008;68:1798-805 pubmed publisher
    ..Steroid 5-alpha reductase type II (SRD5A2) catalyzes the irreversible conversion of T to DHT in male reproductive organs...
  12. Li Q, Zhu Y, He J, Wang M, Zhu M, Shi T, et al. Steroid 5-alpha-reductase type 2 (SRD5A2) V89L and A49T polymorphisms and sporadic prostate cancer risk: a meta-analysis. Mol Biol Rep. 2013;40:3597-608 pubmed publisher
    Steroid 5-?-reductase type 2 (SRD5A2) V89L and A49T polymorphisms are thought to play a crucial role in the androgen synthesis and metabolic pathway, but their associations with prostate cancer risk remain controversial...
  13. Zeigler Johnson C, Walker A, Mancke B, Spangler E, Jalloh M, McBride S, et al. Ethnic differences in the frequency of prostate cancer susceptibility alleles at SRD5A2 and CYP3A4. Hum Hered. 2002;54:13-21 pubmed
    ..Ethnic differences in genotypes for genes associated with androgen metabolism including SRD5A2 and CYP3A4 also may exist. The aim of this study was to evaluate differences in these genotypes by ethnicity...
  14. Deeb A, Al Suwaidi H, Ibukunoluwa F, Attia S. Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene. J Clin Res Pediatr Endocrinol. 2016;8:236-40 pubmed publisher
    ..It is caused by a mutation in the SRD5A2 gene in which various mutation types have been reported...
  15. Söderström T, Wadelius M, Andersson S, Johansson J, Johansson S, Granath F, et al. 5alpha-reductase 2 polymorphisms as risk factors in prostate cancer. Pharmacogenetics. 2002;12:307-12 pubmed
    ..We performed a population-based case-control study of the impact of the SRD5A2 V89L and A49T polymorphisms on the risk of prostate cancer...
  16. Cai L, Zhu Y, Katz M, Herrera C, Baez J, Defillo Ricart M, et al. 5 alpha-reductase-2 gene mutations in the Dominican Republic. J Clin Endocrinol Metab. 1996;81:1730-5 pubmed
    ..Thus, the identification of multiple mutations in the 5 alpha-reductase-2 gene in male pseudohermaphrodites from the Dominican Republic demonstrates a lack of common ancestry, as had been previously postulated. ..
  17. Ribeiro M, Santos A, Carvalho Salles A, Hackel C. Allelic frequencies of six polymorphic markers for risk of prostate cancer. Braz J Med Biol Res. 2002;35:205-13 pubmed
    ..present study was to evaluate the distribution of polymorphisms for the androgen receptor (AR) (CAG, StuI, GGN), SRD5A2 (Ala49Thr, Val89Leu) and CYP17 (MspA1) genes that are considered to be relevant for risk of prostate cancer...
  18. Giwercman C, Giwercman A, Pedersen H, Toft G, Lundin K, Bonde J, et al. Polymorphisms in genes regulating androgen activity among prostate cancer low-risk Inuit men and high-risk Scandinavians. Int J Androl. 2008;31:25-30 pubmed
    ..Polymorphisms related to high androgen metabolism and/or response in the 5alpha-reductase type 2 (SRD5A2) and the androgen receptor (AR) genes, respectively, have been linked to prostate cancer...
  19. Peters M, Saare M, Kaart T, Haller Kikkatalo K, Lend A, Punab M, et al. Analysis of polymorphisms in the SRD5A2 gene and semen parameters in Estonian men. J Androl. 2010;31:372-8 pubmed publisher
    ..SNPs 1-5) (rs632148, rs523349, rs2300701, rs2268797, and rs12470143) in the steroid 5?-reductase type 2 gene (SRD5A2) in 132 azoospermic or oligozoospermic and 211 normozoospermic men...
  20. Steen N, Tesli M, Kähler A, Methlie P, Hope S, Barrett E, et al. SRD5A2 is associated with increased cortisol metabolism in schizophrenia spectrum disorders. Prog Neuropsychopharmacol Biol Psychiatry. 2010;34:1500-6 pubmed publisher
    ..A total of 102 single nucleotide polymorphisms (SNPs) in the SRD5A1, SRD5A2, AKR1D1, HSD11B1 and HSD11B2 genes were genotyped, and significant SNPs analyzed in the sub-sample...
  21. Phelan N, Williams E, Cardamone S, Lee M, Creighton S, Rumsby G, et al. Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development. Eur J Endocrinol. 2015;172:745-51 pubmed publisher
    ..In a previous study, we found that 5α-reductase 2 (SRD5A2) mutations occurred in 43% of women in this subgroup...
  22. Huang Y, Chen H, Zhou X, Wu X, Hu E, Jiang Z. Inhibition effects of chlorogenic acid on benign prostatic hyperplasia in mice. Eur J Pharmacol. 2017;809:191-195 pubmed publisher
    ..Then the serum acid phosphatase (ACP), prostatic acid phosphatase (PACP) and typeâ…¡5-alpha-reductase (SRD5A2) levels were measured and observed morphological changes of the prostate...
  23. Zhang Y, Wang Y, Huang C, Wang Y, Qi H, Han Y, et al. Seasonal expression of 5?-reductases and androgen receptor in the prostate gland of the wild ground squirrel (Spermophilus dauricus). Comp Biochem Physiol A Mol Integr Physiol. 2018;226:11-16 pubmed publisher
    ..The aim of the study was to investigate the localization and expressions of the androgen receptor (AR), SRD5A1 and SRD5A2 in the prostate glands of wild male ground squirrels during different reproductive periods by immunohistochemistry ..
  24. Fassnacht M, Schlenz N, Schneider S, Wudy S, Allolio B, Arlt W. Beyond adrenal and ovarian androgen generation: Increased peripheral 5 alpha-reductase activity in women with polycystic ovary syndrome. J Clin Endocrinol Metab. 2003;88:2760-6 pubmed
    ..05). Taken together, these data indicate enhanced peripheral 5 alpha-reductase activity in PCOS. Thus, not only ovary and adrenal, but also liver and peripheral target tissues, significantly contribute to steroid alterations in PCOS. ..
  25. Allen N, Reichardt J, Nguyen H, Key T. Association between two polymorphisms in the SRD5A2 gene and serum androgen concentrations in British men. Cancer Epidemiol Biomarkers Prev. 2003;12:578-81 pubmed
    ..Several polymorphisms have been identified in the steroid 5 alpha-reductase type II gene (SRD5A2), which encodes an enzyme that catalyzes the conversion of testosterone to its more potent metabolite, ..
  26. Klotsman M, Weinberg C, Davis K, Binnie C, Hartmann K. A case-based evaluation of SRD5A1, SRD5A2, AR, and ADRA1A as candidate genes for severity of BPH. Pharmacogenomics J. 2004;4:251-9 pubmed
    ..associations between two silent polymorphisms in SRD5A1 (codon positions 30 and 116), two polymorphisms in SRD5A2 (Val89Leu substitution and C to T transition in intron 1), a trinucleotide (CAG)n repeat in androgen receptor (AR),..
  27. Berndt S, Chatterjee N, Huang W, Chanock S, Welch R, Crawford E, et al. Variant in sex hormone-binding globulin gene and the risk of prostate cancer. Cancer Epidemiol Biomarkers Prev. 2007;16:165-8 pubmed
    ..in hormone regulation or metabolism (AKR1C3, CYP1A1, CYP1B1, CYP3A4, ESR1, GNRH1, HSD173B, HSD3B2, SHBG, and SRD5A2) in 488 prostate cancer cases and 617 matched controls...
  28. Limer K, Pye S, Thomson W, Boonen S, Borghs H, Vanderschueren D, et al. Genetic variation in sex hormone genes influences heel ultrasound parameters in middle-aged and elderly men: results from the European Male Aging Study (EMAS). J Bone Miner Res. 2009;24:314-23 pubmed publisher
    ..Polymorphisms were genotyped in AR, ESR1, ESR2, CYP19A1, CYP17A1, SHBG, SRD5A2, LHB, and LHCGR...
  29. Thigpen A, Davis D, Gautier T, Imperato McGinley J, Russell D. Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred. N Engl J Med. 1992;327:1216-9 pubmed
  30. Tsunedomi R, Ogawa Y, Iizuka N, Sakamoto K, Tamesa T, Moribe T, et al. The assessment of methylated BASP1 and SRD5A2 levels in the detection of early hepatocellular carcinoma. Int J Oncol. 2010;36:205-12 pubmed
    We previously identified BASP1 and SRD5A2 as novel hepatocellular carcinoma (HCC) methylation markers from among more than 10,000 screened genes. The present study aimed to improve the diagnostic potential of these genes...
  31. Vilchis F, Ramos L, Mendez J, Benavides S, Canto P, Chávez B. Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients. J Androl. 2010;31:358-64 pubmed publisher
    Inactivating mutations of the SRD5A2 gene result in steroid 5?-reductase 2 deficiency, an autosomal recessive disorder expressed as a male-limited disorder of sex development...
  32. Hazlehurst J, Oprescu A, Nikolaou N, Di Guida R, Grinbergs A, Davies N, et al. Dual-5α-Reductase Inhibition Promotes Hepatic Lipid Accumulation in Man. J Clin Endocrinol Metab. 2016;101:103-13 pubmed publisher
    5α-Reductase 1 and 2 (SRD5A1, SRD5A2) inactivate cortisol to 5α-dihydrocortisol in addition to their role in the generation of DHT...
  33. Rahimi M, Ghanbari M, Fazeli Z, Rouzrokh M, Omrani S, Mirfakhraie R, et al. Association of SRD5A2 gene mutations with risk of hypospadias in the Iranian population. J Endocrinol Invest. 2017;40:391-396 pubmed publisher
    ..of testosterone to dihydrotestosterone (DHT) in the presence of steroid 5?-reductase 2, which is encoded by SRD5A2 gene, plays an important role in the normal development of the male reproductive system...
  34. Xu D, Lu L, Xi L, Cheng R, Pei Z, Bi Y, et al. Efficacy and safety of percutaneous administration of dihydrotestosterone in children of different genetic backgrounds with micropenis. J Pediatr Endocrinol Metab. 2017;30:1285-1291 pubmed publisher
    ..Androgen receptor (AR), steroid 5?-reductase-2 (SRD5A2), and SRY genes were sequenced; 2.5% dihydrotestosterone (DHT) transdermal gel (0.1-0...
  35. Vaarala M, Mattila H, Ohtonen P, Tammela T, Paavonen T, Schleutker J. The interaction of CYP3A5 polymorphisms along the androgen metabolism pathway in prostate cancer. Int J Cancer. 2008;122:2511-6 pubmed publisher
    ..The CYP3A5*3/*3 and SRD5A2 A49T GG genotype interaction was associated with the clinical tumor stage T2-T4 (T-stage, TNM classification) with ..
  36. Boger Megiddo I, Weiss N, Barnett M, Goodman G, Chen C. V89L polymorphism of the 5alpha-reductase Type II gene (SRD5A2), endogenous sex hormones, and prostate cancer risk. Cancer Epidemiol Biomarkers Prev. 2008;17:286-91 pubmed publisher
    We examined the combined effect of circulating sex hormones and SRD5A2 V89L polymorphism on prostate cancer risk in a case-control study (300 cases and 300 controls) nested within the Carotene and Retinol Efficacy Trial...
  37. Zhu H, Liu W, Han B, Fan M, Zhao S, Wang H, et al. Phenotypic and molecular characteristics in eleven Chinese patients with 5?-reductase Type 2 deficiency. Clin Endocrinol (Oxf). 2014;81:711-20 pubmed publisher
    ..To describe the clinical features and molecular determinants in 11 Chinese patients with the SRD5A2 gene mutation and to investigate the functional alteration arising from a novel splicing site mutation identified ..
  38. Parlak M, Durmaz E, Gursoy S, Bircan I, Akcurin S. Try235Phe homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Turkish patient. Ann Saudi Med. 2014;34:254-6 pubmed publisher
    Steroid 5-a reductase type 2 isoenzyme (SRD5A2) deficiency is a male-limited autosomal recessive disorder that results in decreased conversion of testosterone to dihydrotestosterone with various de...
  39. Liu Q, Tong D, Liu G, Yi Y, Xu J, Yang X, et al. A novel BRCA2 mutation in prostate cancer sensitive to combined radiotherapy and androgen deprivation therapy. Cancer Biol Ther. 2018;19:669-675 pubmed publisher
    ..Analysis of peripheral blood also identified benign polymorphisms in BRCA2 (c.7397T>C, p.Val2466Ala) and SRD5A2 (c.87G>C, p.Lys29Asn)...
  40. Lenz B, Schöpp E, Müller C, Bleich S, Hillemacher T, Kornhuber J. Association of V89L SRD5A2 polymorphism with craving and serum leptin levels in male alcohol addicts. Psychopharmacology (Berl). 2012;224:421-9 pubmed publisher
    ..The steroid 5-? reductase 2 (SRD5A2) converts testosterone to dihydrotestosterone and thereby causes increased androgenic potency...
  41. Bertelloni S, Baldinotti F, Russo G, Ghirri P, Dati E, Michelucci A, et al. 5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort. Sex Dev. 2016;10:28-36 pubmed publisher
    ..Eighteen different mutations in the steroid-5α-reductase-2 (SRD5A2) gene were identified, 5 of which have never been reported...
  42. ELzanaty S, Giwercman Y, Giwercman A. Significant impact of 5alpha-reductase type 2 polymorphisms on sperm concentration and motility. Int J Androl. 2006;29:414-20 pubmed
    ..Our objective was to investigate whether polymorphisms in the SRD5A2 gene influence semen parameters in the general population...
  43. Xu Y, Dalrymple S, Becker R, Denmeade S, Isaacs J. Pharmacologic basis for the enhanced efficacy of dutasteride against prostatic cancers. Clin Cancer Res. 2006;12:4072-9 pubmed
    ..e., SRD5A1 and SRD5A2)...
  44. Zhang K, Li Y, Mao Y, Ma M. Steroid 5-alpha-reductase type 2 (SRD5A2) gene V89L polymorphism and hypospadias risk: A meta-analysis. J Pediatr Urol. 2017;13:630.e1-630.e9 pubmed publisher
    ..The steroid 5-alpha-reductase type 2 (SRD5A2) gene, which is mainly expressed in the ventral side of the urethra in the process of male genital development, ..
  45. Wang H, Zhang L, Wang N, Zhu H, Han B, Sun F, et al. Next-generation sequencing reveals genetic landscape in 46, XY disorders of sexual development patients with variable phenotypes. Hum Genet. 2018;137:265-277 pubmed publisher
    ..Higher frequency mutations were identified in AR, SRD5A2, and NR5A1...
  46. Fernandez Cancio M, Rodó J, Andaluz P, Martinez de Osaba M, Rodriguez Hierro F, Esteban C, et al. Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene. Horm Res. 2004;62:259-64 pubmed
    ..5alpha-reductase activity and peripheral blood DNA was available for androgen receptor (AR) and 5alpha-reductase (SRD5A2) gene analysis. Exons 1-8 of AR gene and exons 1-5 of SRD5A2 gene were sequenced...
  47. Huhtaniemi I, Pye S, Holliday K, Thomson W, O Neill T, Platt H, et al. Effect of polymorphisms in selected genes involved in pituitary-testicular function on reproductive hormones and phenotype in aging men. J Clin Endocrinol Metab. 2010;95:1898-908 pubmed publisher
    ..androgen receptor (AR), estrogen receptor-alpha and -beta (ESR1 and ESR2), steroid 5alpha-reductase type II (SRD5A2), 17alpha-hydroxylase/17,20-lyase (CYP17A1), aromatase (CYP19A1), sex hormone-binding globulin (SHBG), LH beta-..
  48. Can S, Zhu Y, Cai L, Ling Q, Katz M, Akgun S, et al. The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred. J Clin Endocrinol Metab. 1998;83:560-9 pubmed
    ..the molecular genetics of a large isolated inbred Turkish kindred with MPH due to either 5 alpha-reductase-2 (SRD5A2) or 17 beta-hydroxysteroid dehydrogenase-3 (17 beta HSD3) gene defects...
  49. Ntais C, Polycarpou A, Ioannidis J. SRD5A2 gene polymorphisms and the risk of prostate cancer: a meta-analysis. Cancer Epidemiol Biomarkers Prev. 2003;12:618-24 pubmed
    Several polymorphisms in the 5alpha-reductase type 2 (SRD5A2) gene have been implicated as risk factors for prostate cancer...
  50. Reding K, Li C, Weiss N, Chen C, Carlson C, Duggan D, et al. Genetic variation in the progesterone receptor and metabolism pathways and hormone therapy in relation to breast cancer risk. Am J Epidemiol. 2009;170:1241-9 pubmed publisher
    ..how 51 single nucleotide polymorphisms in 7 progesterone-related genes (AKR1C1, AKR1C2, AKR1C3, CYP3A4, SRD5A1, SRD5A2, and PGR) influenced breast cancer risk...
  51. Izmirli M, Arikan B, Bayazit Y, Alptekin D. Associations of polymorphisms in HPC2/ELAC2 and SRD5A2 genes with benign prostate hyperplasia in Turkish men. Asian Pac J Cancer Prev. 2011;12:731-3 pubmed
    Benign prostate hyperplasia (BPH) is the most common benign tumor in elderly men for which the HPC2/ELAC2 and SRD5A2 genes are known genetic factors...
  52. Wang R, Dong Z, Wang W, Xiao Y, Ni J, Wang D. Mutation analysis of the SRD5A2, AR and SF-1 genes in 52 Chinese boys with hypospadias. J Pediatr Endocrinol Metab. 2013;26:887-93 pubmed publisher
    To investigate the prevalence of genetic mutations in steroid 5?-reductase-2 (SRD5A2), androgen receptor (AR) and steroidogenic factor-1 (SF-1) in Chinese children with hypospadias, and to also explore the possible underlying molecular ..
  53. Erşekerci E, Sofikerim M, Taheri S, Demirtas A, Halis F. Genetic polymorphism in sex hormone metabolism and prostate cancer risk. Genet Mol Res. 2015;14:7326-34 pubmed publisher
    ..P450 genes, including cytochrome P450c17α (CYP17), cytochrome P450 aromatase (CYP19), steroid-5-a-reductase (SRD5A2), and prostate-specific antigen (PSA) involved in androgen and estrogen production...
  54. Rubin A, Salzberg A, Imamura Y, Grivitishvilli A, Tombran Tink J. Identification of novel targets of diabetic nephropathy and PEDF peptide treatment using RNA-seq. BMC Genomics. 2016;17:936 pubmed
    ..5. Coding genes with highest FC in diabetic kidneys include Nhej1 (32.04), Ept1 (8.6), Srd5a2 (-6.55), Aif1 (-6.05), and Angptl7 (-4.71)...
  55. Avendaño A, Paradisi I, Cammarata Scalisi F, Callea M. 5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review. Hormones (Athens). 2018;17:197-204 pubmed publisher
    ..Mutations in the SRD5A2 gene cause 5-α-Reductase deficiency; although it is an infrequent disorder, it has been reported worldwide, with ..
  56. Abaci A, Catli G, Kirbiyik O, Şahin N, Abalı Z, Unal E, et al. Genotype-phenotype correlation, gonadal malignancy risk, gender preference, and testosterone/dihydrotestosterone ratio in steroid 5-alpha-reductase type 2 deficiency: a multicenter study from Turkey. J Endocrinol Invest. 2018;: pubmed publisher
    ..Patients with variations in the SRD5A2 gene were included in the study...
  57. Justenhoven C, Hamann U, Schubert F, Zapatka M, Pierl C, Rabstein S, et al. Breast cancer: a candidate gene approach across the estrogen metabolic pathway. Breast Cancer Res Treat. 2008;108:137-49 pubmed
    ..Of these CYP17A1, CYP19A1, EPHX1, HSD17B1, SRD5A2, and PPARG2 participate in biosynthesis, CYP1A1, CYP1B1, COMT, GSTP1, and SOD2 in catabolism and detoxification...
  58. Sobti R, Gupta L, Singh S, Seth A, Kaur P, Thakur H. Role of hormonal genes and risk of prostate cancer: gene-gene interactions in a North Indian population. Cancer Genet Cytogenet. 2008;185:78-85 pubmed publisher
    ..Genetic polymorphism of the ER, CYP17, SRD5A2 (TA repeats), and PSA genes were analyzed in 157 cases of prostate cancer and 340 controls [170 healthy males and ..
  59. Dušenka R, Tomaškin R, Kliment J, Dobrota D, Dušenková S, Vilčková M, et al. Polymorphism of the SRD5A2 gene and the risk of prostate cancer. Mol Med Rep. 2014;10:3151-6 pubmed publisher
    ..The product of the SRD5A2 gene, membrane‑bound steroid 5‑α‑reductase, type II enzyme, is key in testosterone ..
  60. Chávez B, Ramos L, García Becerra R, Vilchis F. Hamster SRD5A3 lacks steroid 5α-reductase activity in vitro. Steroids. 2015;94:41-50 pubmed publisher
    According to current knowledge, two steroid 5α-reductases, designated type 1 (SRD5A1) and type 2 (SRD5A2), are present in all species examined to date...
  61. Boer H, Westerink N, Altena R, Nuver J, Dijck Brouwer D, van Faassen M, et al. Single-nucleotide polymorphism in the 5-α-reductase gene (SRD5A2) is associated with increased prevalence of metabolic syndrome in chemotherapy-treated testicular cancer survivors. Eur J Cancer. 2016;54:104-11 pubmed publisher
    ..Polymorphisms in the gene encoding steroid 5-α-reductase type II (SRD5A2) are involved in altered androgen metabolism...
  62. Audet Walsh E, Yee T, Tam I, Giguere V. Inverse Regulation of DHT Synthesis Enzymes 5?-Reductase Types 1 and 2 by the Androgen Receptor in Prostate Cancer. Endocrinology. 2017;158:1015-1021 pubmed publisher
    5?-Reductase types 1 and 2, encoded by SRD5A1 and SRD5A2, are the two enzymes that can catalyze the conversion of testosterone to dihydrotestosterone, the most potent androgen receptor (AR) agonist in prostate cells...
  63. Graupp M, Wehr E, Schweighofer N, Pieber T, Obermayer Pietsch B. Association of genetic variants in the two isoforms of 5?-reductase, SRD5A1 and SRD5A2, in lean patients with polycystic ovary syndrome. Eur J Obstet Gynecol Reprod Biol. 2011;157:175-9 pubmed publisher
    ..The aim of this study was to analyze representative genetic variants of both isoforms of 5?-reductase with regard to PCOS parameters in lean and obese women...
  64. Kon M, Suzuki E, Dung V, Hasegawa Y, Mitsui T, Muroya K, et al. Molecular basis of non-syndromic hypospadias: systematic mutation screening and genome-wide copy-number analysis of 62 patients. Hum Reprod. 2015;30:499-506 pubmed publisher
    ..mutations, such as hemizygous mutations in AR, a heterozygous mutation in BNC2, and homozygous mutations in SRD5A2 and HSD3B2. Two of the seven patients had mutations in multiple genes...
  65. Nnane I, Kato K, Liu Y, Long B, Lu Q, Wang X, et al. Inhibition of androgen synthesis in human testicular and prostatic microsomes and in male rats by novel steroidal compounds. Endocrinology. 1999;140:2891-7 pubmed
    ..Although future improvements in their bioavailability are necessary, these novel steroidal compounds show promise as potential agents for reducing T and DHT levels in patients with androgen dependent diseases. ..
  66. Maimoun L, Philibert P, Cammas B, Audran F, Bouchard P, Fenichel P, et al. Phenotypical, biological, and molecular heterogeneity of 5?-reductase deficiency: an extensive international experience of 55 patients. J Clin Endocrinol Metab. 2011;96:296-307 pubmed publisher
    ..relevant data for clinical diagnosis, biological investigation, and molecular determination from 55 patients with srd5A2 mutations identified in our laboratory over 20 yr to improve early diagnosis...
  67. Redler S, Tazi Ahnini R, Drichel D, Birch M, Brockschmidt F, Dobson K, et al. Selected variants of the steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2 and the sex steroid hormone receptors ESR1, ESR2 and PGR: no association with female pattern hair loss identified. Exp Dermatol. 2012;21:390-3 pubmed publisher
    ..We therefore selected a total of 21 variants from the steroid-5-alpha-reductase isoforms SRD5A1 and SRD5A2, the sex steroid hormone receptors ESR1, ESR2 (oestrogen receptor) and PGR (progesterone receptor) and genotyped ..
  68. Choubey V, Sankhwar S, Carlus S, Singh A, Dalela D, Thangaraj K, et al. SRD5A2 gene polymorphisms and the risk of benign prostatic hyperplasia but not prostate cancer. Asian Pac J Cancer Prev. 2015;16:1033-6 pubmed
    ..is converted into its most active form, dihydrotestosterone (DHT), by 5α-reductase type 2 (encoded by the SRD5A2 gene) in the prostate...
  69. Nasiri M, Nikolaou N, Parajes S, Krone N, Valsamakis G, Mastorakos G, et al. 5α-Reductase Type 2 Regulates Glucocorticoid Action and Metabolic Phenotype in Human Hepatocytes. Endocrinology. 2015;156:2863-71 pubmed publisher
    ..Glucocorticoid and androgen action are regulated at a prereceptor level by the enzyme 5α-reductase type 2 (SRD5A2), which inactivates glucocorticoids to their dihydrometabolites and converts T to DHT...
  70. Ling Y, Quan Q, Xiang H, Zhu L, Chu M, Zhang X, et al. Expression profiles of differentially expressed genes affecting fecundity in goat ovarian tissues. Genet Mol Res. 2015;14:18743-52 pubmed publisher
    ..The FER1L4 gene showed the level of highest up-regulation in the multiparous library, while SRD5A2 expression showed the greatest down-regulation...
  71. Waśniewski T, Woclawek Potocka I. Altered expression of lysophosphatidic acid receptors, in association with the synthesis of estrogens and androgens in type 1 endometrial cancer biology. Gynecol Endocrinol. 2017;:1-6 pubmed publisher
    ..EC), we evaluated correlation of LPARs expression with expression of steroid 5 alpha-reductase 2 - aromatase (SRD5A2), or cytochrome P450 family 19 subfamily A member 1-5?-reductase (CYP19A1) in EC...
  72. Lamharzi N, Johnson M, Goodman G, Etzioni R, Weiss N, Dightman D, et al. Polymorphic markers in the 5alpha-reductase type II gene and the incidence of prostate cancer. Int J Cancer. 2003;105:480-3 pubmed
    In the prostate, the enzyme encoded by the SRD5A2 gene (5alpha-reductase) converts testosterone to dihydrotestosterone, a potent androgen that has been hypothesized to play a role in the genesis of prostate cancer...
  73. Rossi L, Leveri M, Gritti C, De Silvestri A, Zavaglia C, Sonzogni L, et al. Genetic polymorphisms of steroid hormone metabolizing enzymes and risk of liver cancer in hepatitis C-infected patients. J Hepatol. 2003;39:564-70 pubmed
    ..participating in the pathway of estrogen and androgen biosynthesis and inactivation, 5alpha-reductase type II (SRD5A2), cytochrome P450c17alpha (CYP17) and catechol-O-methyltransferase (COMT), might affect the expression of ..
  74. Rebbeck T, Rennert H, Walker A, Panossian S, Tran T, Walker K, et al. Joint effects of inflammation and androgen metabolism on prostate cancer severity. Int J Cancer. 2008;123:1385-9 pubmed publisher
    ..genotypes involved in inflammation or androgen metabolism including MSR1, RNASEL, AR, CYP3A4, CYP3A43, CYP3A5 and SRD5A2. We observed a statistically significant interaction between a number of genotypes and BPH...
  75. Tsai M, Chou Y, Lin S, Tsai L. A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia. Kaohsiung J Med Sci. 2012;28:231-5 pubmed publisher
    ..is a rare autosomal recessive 46,XY disorder of sex development caused by the mutated 5?-reductase type 2 (SRD5A2) gene...
  76. Kalfa N, Paris F, Philibert P, Orsini M, Broussous S, Fauconnet Servant N, et al. Is Hypospadias Associated with Prenatal Exposure to Endocrine Disruptors? A French Collaborative Controlled Study of a Cohort of 300 Consecutive Children Without Genetic Defect. Eur Urol. 2015;68:1023-30 pubmed publisher
    ..In patients without AR, SRD5A2, and MAMLD1 mutations, parental occupational and professional exposures to EDCs were evaluated based on European ..
  77. Mendonca B, Batista R, Domenice S, Costa E, Arnhold I, Russell D, et al. Steroid 5?-reductase 2 deficiency. J Steroid Biochem Mol Biol. 2016;163:206-11 pubmed publisher
    ..Fertility can be achieved in some affected males with assisted reproduction techniques, and adults with male social sex report a more satisfactory sex life and quality of life as compared to affected individuals with female social sex. ..
  78. Shibata A, Garcia M, Cheng I, Stamey T, McNeal J, Brooks J, et al. Polymorphisms in the androgen receptor and type II 5 alpha-reductase genes and prostate cancer prognosis. Prostate. 2002;52:269-78 pubmed
    ..repeat length of the androgen receptor gene and the A49T and V89L polymorphisms of the 5 alpha-reductase (SRD5A2) gene have been associated with prostate cancer...
  79. Azzouzi A, Cochand Priollet B, Mangin P, Fournier G, Berthon P, Latil A, et al. Impact of constitutional genetic variation in androgen/oestrogen-regulating genes on age-related changes in human prostate. Eur J Endocrinol. 2002;147:479-84 pubmed
    ..We have evaluated the correlation between specific genotypes in androgen- and oestrogen-regulating genes (AR, SRD5A2, CYP17 and CYP19), and age-related prostatic changes...
  80. Wu J, Tsai W, Hsu H, Ni Y, Chen H, Tsuei D, et al. Effect of puberty onset on spontaneous hepatitis B virus e antigen seroconversion in men. Gastroenterology. 2010;138:942-8.e1 pubmed publisher
    ..Serum testosterone levels, androgen receptor exon-1 CAG repeat number and steroid 5alpha reductase type II (SRD5A2, valine vs leucine alleles) polymorphism were determined...
  81. van der Zanden L, van Rooij I, Feitz W, Vermeulen S, Kiemeney L, Knoers N, et al. Genetics of hypospadias: are single-nucleotide polymorphisms in SRD5A2, ESR1, ESR2, and ATF3 really associated with the malformation?. J Clin Endocrinol Metab. 2010;95:2384-90 pubmed publisher
    ..Little is known about the genes involved in hypospadias. A few genetic associations have been reported but mainly in studies of small sample size. Most of these associations have not been replicated...
  82. Jiang J, Tang N, Ohlsson C, Eriksson A, Vandenput L, Liao C, et al. Association of SRD5A2 variants and serum androstane-3alpha,17beta-diol glucuronide concentration in Chinese elderly men. Clin Chem. 2010;56:1742-9 pubmed publisher
    Results of recent studies have demonstrated that genetic variants of the enzyme steroid 5? reductase type II (SRD5A2) are associated with serum concentrations of major androgen metabolites such as conjugates of androstane-3?,17?-diol-..
  83. Matteini A, Li J, Lange E, Tanaka T, Lange L, Tracy R, et al. Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults. Cytokine. 2014;65:10-6 pubmed publisher
    ..Replication in independent cohorts is an important next step, as well as molecular studies to better understand the role of NLRC4. ..
  84. Ge R, Wang Z, Bechis S, Otsetov A, Hua S, Wu S, et al. DNA methyl transferase 1 reduces expression of SRD5A2 in the aging adult prostate. Am J Pathol. 2015;185:870-82 pubmed publisher
    5-α Reductase type 2 (SRD5A2) is a critical enzyme for prostatic development and growth. Inhibition of SRD5A2 by finasteride is used commonly for the management of urinary obstruction caused by benign prostatic hyperplasia...
  85. Taheri S, Zararsiz G, Karaburgu S, Borlu M, Ozgun M, Karaca Z, et al. Is idiopathic hirsutism (IH) really idiopathic? mRNA expressions of skin steroidogenic enzymes in women with IH. Eur J Endocrinol. 2015;173:447-54 pubmed publisher
    ..mRNA expressions of genes associated with local androgen synthesis and metabolism (CYP11A1, STS, CYP19A1, SRD5A1, SRD5A2, HSD3B1, AR, COMT, ESR1, ESR2, HSD3B2, CYP17A1, SULT2A1, SULT1E1, HSD17B2, IL6, TGFB1, TNFA) from skin biopsy and ..
  86. Eren E, Edgünlü T, Asut E, Karakaş Çelik S. Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency. J Clin Res Pediatr Endocrinol. 2016;8:218-23 pubmed publisher
    ..of steroid 5-alpha reductase type 2 (5αRD2) is a rare autosomal recessive disorder caused by mutations in the SRD5A2 gene...
  87. Thigpen A, Silver R, Guileyardo J, Casey M, McConnell J, Russell D. Tissue distribution and ontogeny of steroid 5 alpha-reductase isozyme expression. J Clin Invest. 1993;92:903-10 pubmed
  88. Ishii T, Sasaki G, Hasegawa T, Sato S, Matsuo N, Ogata T. Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis. J Urol. 2004;172:319-24 pubmed
    ..responses to testosterone enanthate (TE) therapy for micropenis, and the relevance of the V89L polymorphism of SRD5A2 encoding the 5alpha-reductase type 2 and CAG repeat length polymorphism of AR encoding the androgen receptor...
  89. Makridakis N, Akalu A, Reichardt J. Identification and characterization of somatic steroid 5alpha-reductase (SRD5A2) mutations in human prostate cancer tissue. Oncogene. 2004;23:7399-405 pubmed
    ..The human SRD5A2 gene encodes the prostatic (or type II) steroid 5alpha-reductase, which catalyses the irreversible conversion of ..