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

Publications191 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. Caglayan A, Dundar M, Tanriverdi F, Baysal N, Unluhizarci K, Ozkul Y, et al. Idiopathic hirsutism: local and peripheral expression of aromatase (CYP19A) and 5?-reductase genes (SRD5A1 and SRD5A2). Fertil Steril. 2011;96:479-82 pubmed publisher
    ..A statistically significant reduction of SRD5A1, SRD5A2, and CYP19A gene expression was found in the dermal papillae cells and peripheral blood mononuclear cell between ..
  14. Robinson N, Johnsen H, Moghadam H, Andersen Ø, Tveiten H. Early Developmental Stress Affects Subsequent Gene Expression Response to an Acute Stress in Atlantic Salmon: An Approach for Creating Robust Fish for Aquaculture?. G3 (Bethesda). 2019;: pubmed publisher
    ..Stress treatments applied during early development therefore have potential as a husbandry tool for boosting the productivity of aquaculture by affecting how fish respond to stresses at critical stages of production. ..
  15. Hefler L, Tempfer C, Grimm C, Lebrecht A, Ulbrich E, Heinze G, et al. Estrogen-metabolizing gene polymorphisms in the assessment of breast carcinoma risk and fibroadenoma risk in Caucasian women. Cancer. 2004;101:264-9 pubmed
    ..Although the authors were not able to develop interaction models involving SNPs, they did provide evidence that CYP1A1 is a low-penetrance susceptibility gene with respect to breast carcinoma in a large series of Caucasian women. ..
  16. Mozhui K, Pandey A. Conserved effect of aging on DNA methylation and association with EZH2 polycomb protein in mice and humans. Mech Ageing Dev. 2017;162:27-37 pubmed publisher
    ..g., C1ql3, Srd5a2 and Ptk7)...
  17. Yuan S, Meng L, Zhang Y, Tu C, Du J, Li W, et al. Genotype-phenotype correlation and identification of two novel SRD5A2 mutations in 33 Chinese patients with hypospadias. Steroids. 2017;125:61-66 pubmed publisher
    ..We performed mutation analysis of the SRD5A2, AR and HSD17B3 genes in these patients...
  18. Zi X, Lu J, Zhou H, Ma L, Xia W, Xiong X, et al. Comparative analysis of ovarian transcriptomes between prolific and non-prolific goat breeds via high-throughput sequencing. Reprod Domest Anim. 2017;: pubmed publisher
    ..b>SRD5A2, MSMB, STAR and 3BHSD, etc. were the most significantly differentially expressed between these two distinct breeds...
  19. Hochberg Z, Chayen R, Reiss N, Falik Z, Makler A, Munichor M, et al. Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency. J Clin Endocrinol Metab. 1996;81:2821-7 pubmed
    ..The coding sequence of the 5 alpha R2 gene (SRD5A2) was studied by exon-specific PCR, single strand conformation polymorphism, and direct sequencing...
  20. Ito K, Suzuki T, Akahira J, Moriya T, Kaneko C, Utsunomiya H, et al. Expression of androgen receptor and 5alpha-reductases in the human normal endometrium and its disorders. Int J Cancer. 2002;99:652-7 pubmed
    ..Androgenic actions may be also regulated predominantly by serum testosterone and not by DHT in endometrial hyperplasia because of the absence of 5alpha-reductases in the site of its actions. ..
  21. Ellis J, Panagiotopoulos S, Akdeniz A, Jerums G, Harrap S. Androgenic correlates of genetic variation in the gene encoding 5alpha-reductase type 1. J Hum Genet. 2005;50:534-7 pubmed
    ..for converting testosterone to the more potent androgen dihydrotestosterone are encoded by the SRD5A1 and SRD5A2 genes, respectively...
  22. Okugi H, Nakazato H, Matsui H, Ohtake N, Nakata S, Suzuki K. Association of the polymorphisms of genes involved in androgen metabolism and signaling pathways with familial prostate cancer risk in a Japanese population. Cancer Detect Prev. 2006;30:262-8 pubmed
    ..Genotypes of the CAG repeat length of androgen receptor (AR), CYP17, 5alpha-reductase type II (SRD5A2), UDG-glucuronosyltransferase (UGT) 2B15, PSA promoter genes were analyzed...
  23. Choi J, Kim G, Seo E, Kim K, Kim S, Yoo H. Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex development. J Pediatr Endocrinol Metab. 2008;21:545-53 pubmed
    The aim of this study was to assess the clinical and endocrinological features, and to analyze AR and SRD5A2 genes in patients with 46,XY disorders of sex development (DSD)...
  24. Aschim E, Oldenburg J, Kristiansen W, Giwercman A, Witczak O, Fosså S, et al. Genetic variations associated with the effect of testicular cancer treatment on gonadal hormones. Hum Reprod. 2014;29:2844-51 pubmed publisher
    ..in long-term testicular cancer (TC) survivors (TCSs)? Variations in LH receptor (LHR) and in 5α-reductase II (SRD5A2) genes may modify the effect of TC treatment on testosterone levels, whereas genetic variations in the androgen ..
  25. Zettergren A, Karlsson S, Hovey D, Jonsson L, Melke J, Anckarsäter H, et al. Further investigations of the relation between polymorphisms in sex steroid related genes and autistic-like traits. Psychoneuroendocrinology. 2016;68:1-5 pubmed publisher
    ..polymorphisms (SNPs) in the genes encoding estrogen receptor 1 (ESR1), steroid-5-alpha-reductase, type 2 (SRD5A2) and sex hormone-binding globulin (SHBG) in a subset (n=1771) from the Child and Adolescent Twin Study in Sweden (..
  26. Montorsi F, Alcaraz A, Desgrandchamps F, Hammerer P, Schröder F, Castro R. A broader role for 5ARIs in prostate disease? Existing evidence and emerging benefits. Prostate. 2009;69:895-907 pubmed publisher
    ..The overlap between BPE and prostate cancer may allow a more unified approach to managing these conditions, with 5ARIs having a central role. ..
  27. Ashton K, Proietto A, Otton G, Symonds I, McEvoy M, Attia J, et al. Polymorphisms in genes of the steroid hormone biosynthesis and metabolism pathways and endometrial cancer risk. Cancer Epidemiol. 2010;34:328-37 pubmed publisher
  28. Gamat M, Malinowski R, Parkhurst L, Steinke L, Marker P. Ornithine Decarboxylase Activity Is Required for Prostatic Budding in the Developing Mouse Prostate. PLoS ONE. 2015;10:e0139522 pubmed publisher
    ..Other genes implicated in prostatic development including Sox9, Wif1 and Srd5a2 were unaffected by DFMO...
  29. Fu X, Zhang W, Qu X. Correlation of androgen receptor and SRD5A2 gene mutations with pediatric hypospadias in 46, XY DSD children. Genet Mol Res. 2016;15:15018232 pubmed publisher
    ..of 46, XY disorders of sex development (46, XY DSD) with androgen receptor (AR) and steroid 5?-reductase-2 (SRD5A2) gene mutations and a safety analysis of dihydrotestosterone (DHT) gel treatment for pediatric micropenis...
  30. Guaragna Filho G, Calixto A, De Paula G, de Oliveira L, Morcillo A, de Mello M, et al. Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion. J Pediatr Endocrinol Metab. 2018;31:191-194 pubmed publisher
    ..Molecular analysis of the AR and SRD5A2 genes were performed in all patients and the NR5A1 gene analysis in the idiopathic group...
  31. Thai H, Kalbasi M, Lagerstedt K, Frisén L, Kockum I, Nordenskjold A. The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias. J Clin Endocrinol Metab. 2005;90:6695-8 pubmed
    ..A key enzyme for the androgenic function is steroid 5-alpha-reductase (SRD5A2). The V89L polymorphism in the SRD5A2 gene has been studied and found to be of functional importance...
  32. Hsu F, Lindstrom S, Sun J, Wiklund F, Chen S, Adami H, et al. A multigenic approach to evaluating prostate cancer risk in a systematic replication study. Cancer Genet Cytogenet. 2008;183:94-8 pubmed publisher
    ..99, P = 0.0014). A significant trend relationship was observed (P < 0.0001). In the present study, additive effects but not multiplicative effects among these six polymorphisms with significant main effects were observed. ..
  33. Bautista F, Varela Junior A, Corcini C, Acosta I, Caldas S, Primel E, et al. The herbicide atrazine affects sperm quality and the expression of antioxidant and spermatogenesis genes in zebrafish testes. Comp Biochem Physiol C Toxicol Pharmacol. 2018;206-207:17-22 pubmed publisher
    ..The ATZ caused transcriptional repression of the spermatogenesis-related genes SRD5A2 and CFTR, the antioxidant defense genes SOD2 and GPX4B, and the DNA repair gene XPC...
  34. Falvo S, Chieffi Baccaria G, Spaziano G, Rosati L, Venditti M, Di Fiore M, et al. StAR protein and steroidogenic enzyme expressions in the rat Harderian gland. C R Biol. 2018;341:160-166 pubmed publisher
    ..demonstrate, for the first time, the expression of StAR gene and protein, and Cyp11a1, Hsd3b1, Hsd17b3, Srd5a1, Srd5a2 and Cyp19a1 genes in the rat HG. StAR mRNA and protein expressions were much greater in males than in females...
  35. Roberts R, Bergstralh E, Farmer S, Jacobson D, McGree M, Hebbring S, et al. Polymorphisms in the 5alpha reductase type 2 gene and urologic measures of BPH. Prostate. 2005;62:380-7 pubmed
    The objective of the study was to examine associations between SRD5A2 polymorphisms and measures of benign prostatic hyperplasia (BPH)...
  36. Gad Y, Khairt R, Mazen I, Osman H. Detection of the G34R mutation in the 5 alpha reductase 2 gene by allele specific PCR and its linkage to the 89L allele among Egyptian cases. Sex Dev. 2007;1:293-6 pubmed publisher
    ..All 34R mutation carrying sequences had 100% linkage to the 89L allele, contrasting normal ones with low 89L frequencies. This linkage infers a founder effect among Egyptians having G34R mutation. ..
  37. Gillespie C, Almli L, Smith A, Bradley B, Kerley K, Crain D, et al. Sex dependent influence of a functional polymorphism in steroid 5-?-reductase type 2 (SRD5A2) on post-traumatic stress symptoms. Am J Med Genet B Neuropsychiatr Genet. 2013;162B:283-292 pubmed publisher
    A non-synonymous, single nucleotide polymorphism (SNP) in the gene coding for steroid 5-?-reductase type 2 (SRD5A2) is associated with reduced conversion of testosterone to dihydrotestosterone (DHT)...
  38. Di Marco C, Bulotta A, Varetti C, Dosa L, Michelucci A, Baldinotti F, et al. Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation. Gene. 2013;526:490-3 pubmed publisher
    ..Direct sequencing analysis of the SRD5A2 gene revealed in five patients a novel homozygous frame-shift mutation (c...
  39. Alswailem M, Alzahrani O, Alghofaili L, Qasem E, Almohanaa M, Alsagheir A, et al. Molecular genetics and phenotype/genotype correlation of 5-α reductase deficiency in a highly consanguineous population. Endocrine. 2019;63:361-368 pubmed publisher
    ..testing on DNA isolated from their peripheral blood using polymerase chain reaction and direct sequencing of the SRD5A2. All subjects had 46,XY karyotype and presented with atypical appearance of external genitalia ranging from ..
  40. Vilchis F, Mendez J, Canto P, Lieberman E, Chavez B. Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency. Clin Endocrinol (Oxf). 2000;52:383-7 pubmed
    Mutations of the steroid 5alpha-reductase type 2 (SRD5A2) gene in karyotypic males result in a spectrum of external genitalia phenotypes ranging from complete female to nearly complete male...
  41. Wan L, Tan H, Thomas Ahner J, Pearl D, Erdman J, Moran N, et al. Dietary tomato and lycopene impact androgen signaling- and carcinogenesis-related gene expression during early TRAMP prostate carcinogenesis. Cancer Prev Res (Phila). 2014;7:1228-39 pubmed publisher
    ..involved in androgen metabolism/signaling pathways is reduced by lycopene feeding (Srd5a1) and by tomato feeding (Srd5a2, Pxn, and Srebf1)...
  42. Ollivier M, Paris F, Philibert P, Garnier S, Coffy A, Fauconnet Servant N, et al. Family History is Underestimated in Children with Isolated Hypospadias: A French Multicenter Report of 88 Families. J Urol. 2018;200:890-894 pubmed publisher
    ..history with a standardized questionnaire, extensive clinical description, family tree and sequencing of AR, SF1, SRD5A2 and MAMLD1. Family history of hypospadias was more frequent than expected (88 patients, 22.3%)...
  43. Tria A, Hiort O, Sinnecker G. Steroid 5alpha-reductase 1 polymorphisms and testosterone/dihydrotestosterone ratio in male patients with hypospadias. Horm Res. 2004;61:180-3 pubmed
    Defects in the steroid 5alpha-reductase type 2 (SRD5A2) activity cause decreased formation of dihydrotestosterone (DHT) from testosterone (T), resulting in defective masculinization of external genitalia; the T/DHT ratio is increased...
  44. Kakinuma H, Tsuchiya N, Habuchi T, Ohyama C, Matsuura S, Wang L, et al. Serum sex steroid hormone levels and polymorphisms of CYP17 and SRD5A2: implication for prostate cancer risk. Prostate Cancer Prostatic Dis. 2004;7:333-7 pubmed
    ..To evaluate the effect of the polymorphisms of CYP17 and SRD5A2 on serum steroid hormone levels, the 164 male Japanese cohort were tested for serum hormone levels and the ..
  45. Li X, Huang Y, Fu X, Chen C, Zhang D, Yan L, et al. Meta-analysis of three polymorphisms in the steroid-5-alpha-reductase, alpha polypeptide 2 gene (SRD5A2) and risk of prostate cancer. Mutagenesis. 2011;26:371-83 pubmed publisher
    The steroid-5-alpha-reductase, alpha polypeptide 2 (SRD5A2) gene plays a crucial role in androgen metabolism pathway in human prostate. It encodes SRD5A2 enzyme, which catalyses testosterone to dihydrotestosterone (DHT)...
  46. Zhang M, Yang J, Zhang H, Ning G, Li X, Sun S. A novel SRD5A2 mutation with loss of function identified in Chinese patients with hypospadias. Horm Res Paediatr. 2011;76:44-9 pubmed publisher
    To investigate the functional change of SRD5A2 gene mutations identified in patients with 5α-reductase type 2 deficiency. Three unrelated subjects born with ambiguous genitalia were included...
  47. Ye L, Su Z, Ge R. Inhibitors of testosterone biosynthetic and metabolic activation enzymes. Molecules. 2011;16:9983-10001 pubmed publisher
    ..activated into more potent androgen dihydrotestosterone by two isoforms 5α-reductase 1 (SRD5A1) and 2 (SRD5A2) in Leydig cells and peripheral tissues...
  48. Yamoah K, Johnson M, Choeurng V, Faisal F, Yousefi K, Haddad Z, et al. Novel Biomarker Signature That May Predict Aggressive Disease in African American Men With Prostate Cancer. J Clin Oncol. 2015;33:2789-96 pubmed publisher
    ..037) predicted risk of pathologic T3 disease in an ethnicity-dependent manner. Dysregulation of GOLM1 (P = .037), SRD5A2 (P = .023), and MKi67 (P = ...
  49. Zhu Y, Li E, Sun W, Xu D, Liu Z, Zhao W, et al. Maternal exposure to di-n-butyl phthalate (DBP) induces combined anorectal and urogenital malformations in male rat offspring. Reprod Toxicol. 2016;61:169-76 pubmed publisher
    ..well as reduced expression of genes related to the androgen signaling pathway (Cyp11a1, Hsd3b, Scarb1, Star, AR, Srd5a2) were found in the testes of ARMs & hypospadias male rats after DBP exposure as compared to untreated controls...
  50. Fang C, Guo Z, Chen X, Liu T, Zeng X, Wang X. Relationship between SRD5A2 rs9282858 polymorphism and the susceptibility of prostate cancer: A meta-analysis based on 20 publications. Medicine (Baltimore). 2017;96:e6791 pubmed publisher
    ..It has been reported that rs9282858 polymorphism of steroid 5-?-reductase type 2 (SRD5A2) may affect the susceptibility of PCa, but some researches showed different results...
  51. 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...
  52. Maimoun L, Philibert P, Cammas B, Audran F, Pienkowski C, Kurtz F, et al. Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations. Int J Androl. 2010;33:841-7 pubmed publisher
    ..We report three new SRD5A2 gene mutations in four newborns from France, Morocco and Turkey...
  53. Henríquez Hernández L, Valenciano A, Foro Arnalot P, Álvarez Cubero M, Cozar J, Suarez Novo J, et al. Intraethnic variation in steroid-5-alpha-reductase polymorphismsin prostate cancer patients: a potential factor implicated in 5-alpha-reductase inhibitor treatment. J Genet. 2015;94:335-41 pubmed
  54. 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...
  55. Boudon C, Lobaccaro J, Lumbroso S, Ogur G, Ocal G, Belon C, et al. A new deletion of the 5 alpha-reductase type 2 gene in a Turkish family with 5 alpha-reductase deficiency. Clin Endocrinol (Oxf). 1995;43:183-8 pubmed
    ..This gene rearrangement was thus clearly responsible for the reduced 5 alpha-reductase activity and abnormal genital development in this patient. ..
  56. 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...
  57. 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. ..
  58. 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...
  59. 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...
  60. 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...
  61. 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...
  62. 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...
  63. 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...
  64. 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 ..
  65. 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. ..
  66. 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, ..
  67. 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),..
  68. 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...
  69. 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...
  70. 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
  71. 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...
  72. 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...
  73. 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...
  74. 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...
  75. 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...
  76. 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 ..
  77. 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...
  78. 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 ..
  79. 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...
  80. 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)...
  81. 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...
  82. 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...
  83. 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...
  84. 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)...
  85. 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, ..
  86. 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...
  87. 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...
  88. 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-..
  89. 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...
  90. 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...
  91. 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...
  92. 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...