SRD5A2

Summary

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

Top Publications

  1. ncbi GEN GEN: the genomic genetic analysis of androgen-metabolic genes and prostate cancer as a paradigm for the dissection of complex phenotypes
    J K Reichardt
    Department of Biochemistry and Molecular Biology, Institute for Genetic Medicine, USC School of Medicine, 2250 Alcazar Street, Los Angeles, CA 90033, USA
    Front Biosci 4:D596-600. 1999
  2. doi Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency
    Jung Min Ko
    Department of Pediatric Endocrinology and Metabolism, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
    Horm Res Paediatr 73:41-8. 2010
  3. ncbi Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA
    N M Makridakis
    Department of Biochemistry and Molecular Biology and Institute for Genetic Medicine, University of Southern California School of Medicine, 90033, USA
    Lancet 354:975-8. 1999
  4. ncbi Prostate carcinoma risk and allelic variants of genes involved in androgen biosynthesis and metabolism pathways
    A G Latil
    Center for Research into Prostate Pathologies, Evry, France
    Cancer 92:1130-7. 2001
  5. ncbi The association between polymorphisms in the CYP17 and 5alpha-reductase (SRD5A2) genes and serum androgen concentrations in men
    N E Allen
    Imperial Cancer Research Fund Cancer Epidemiology Unit, Oxford, United Kingdom
    Cancer Epidemiol Biomarkers Prev 10:185-9. 2001
  6. pmc A missense substitution A49T in the steroid 5-alpha-reductase gene (SRD5A2) is not associated with prostate cancer in Finland
    N Mononen
    Laboratory of Cancer Genetics, Dept of Clinical Chemistry, Institution of Medical Technology, University of Tampere and Tampere University Hospital, P O Box 2000, Tampere, FIN 33521, Finland
    Br J Cancer 84:1344-7. 2001
  7. pmc Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients
    K Margiotti
    Dipartimento di Biopatologia e Diagnostica per Immagini, Sezione di Genetica, Universita Tor Vergata, Via di Tor Vergata 135, 00133 Rome, Italy
    Dis Markers 16:147-50. 2000
  8. ncbi V89L polymorphism of type-2, 5-alpha reductase enzyme gene predicts prostate cancer presence and progression
    R K Nam
    Division of Urology, Princess Margaret Hospital, University Health Network, University of Toronto, Toronto, Ontario, Canada
    Urology 57:199-204. 2001
  9. ncbi Polymorphic markers in the SRD5A2 gene and prostate cancer risk: a population-based case-control study
    A W Hsing
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20852 7234, USA
    Cancer Epidemiol Biomarkers Prev 10:1077-82. 2001
  10. ncbi Structure of human type II 5 alpha-reductase gene
    F Labrie
    Medical Research Council Group in Molecular Endocrinology, CHUL Research Center, Quebec, Canada
    Endocrinology 131:1571-3. 1992

Research Grants

  1. 5 ALPHA REDUCTASE GENOTYPE, RACE PROSTATE CANCER RISK
    Laurence Kedes; Fiscal Year: 2003
  2. 5 ALPHA REDUCTASE GENOTYPE, RACE PROSTATE CANCER RISK
    JUERGEN REICHARDT; Fiscal Year: 2002
  3. Human aldo-keto reductases and nuclear receptor action
    TREVOR PENNING; Fiscal Year: 2009
  4. Estrogen Metabolism and Action in Prostate Cancer Etiology in PCPT
    Ashraful Hoque; Fiscal Year: 2007
  5. Prostate Cancer in Senegalese Men
    Serigne Gueye; Fiscal Year: 2005
  6. Ethnic difference in prostate cancer
    Timothy Rebbeck; Fiscal Year: 2009
  7. Ethnic difference in prostate cancer
    Timothy Rebbeck; Fiscal Year: 2009
  8. MOLECULAR EPIDEMIOLOGY OF PROSTATE CANCER
    Timothy Rebbeck; Fiscal Year: 2003
  9. San Antonio Center - Biomarkers for Prostate Cancer
    Ian Thompson; Fiscal Year: 2007
  10. DETERMINANTS OF STEROID HORMONES IN BLACK AND WHITE MEN
    Susan Gapstur; Fiscal Year: 2006

Detail Information

Publications158 found, 100 shown here

  1. ncbi GEN GEN: the genomic genetic analysis of androgen-metabolic genes and prostate cancer as a paradigm for the dissection of complex phenotypes
    J K Reichardt
    Department of Biochemistry and Molecular Biology, Institute for Genetic Medicine, USC School of Medicine, 2250 Alcazar Street, Los Angeles, CA 90033, USA
    Front Biosci 4:D596-600. 1999
    ..the hypothesis that DNA sequence (allelic) variations in the type II (or prostatic) steroid 5alpha-reductase (SRD5A2) gene contribute substantially to the risk and progression of prostate cancer particularly across racial/ethnic ..
  2. doi Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency
    Jung Min Ko
    Department of Pediatric Endocrinology and Metabolism, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
    Horm Res Paediatr 73:41-8. 2010
    The aim of this study was to perform a 5alpha-reductase type 2 gene (SRD5A2) analysis in 6 Korean patients with external genitalia ranging from predominantly female to male in whom 5alpha-reductase type 2 deficiency was suspected.
  3. ncbi Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA
    N M Makridakis
    Department of Biochemistry and Molecular Biology and Institute for Genetic Medicine, University of Southern California School of Medicine, 90033, USA
    Lancet 354:975-8. 1999
    ..It is an androgen-dependent cancer, and androgens have been proposed as having a substantial role in predisposition to the disease. Thus, variations in androgen metabolism genes may affect risk of this disease...
  4. ncbi Prostate carcinoma risk and allelic variants of genes involved in androgen biosynthesis and metabolism pathways
    A G Latil
    Center for Research into Prostate Pathologies, Evry, France
    Cancer 92:1130-7. 2001
    ..The authors evaluated the association between polymorphisms in genes involved in the androgen biosynthesis and metabolism pathway and the risk of prostate carcinoma...
  5. ncbi The association between polymorphisms in the CYP17 and 5alpha-reductase (SRD5A2) genes and serum androgen concentrations in men
    N E Allen
    Imperial Cancer Research Fund Cancer Epidemiology Unit, Oxford, United Kingdom
    Cancer Epidemiol Biomarkers Prev 10:185-9. 2001
    ..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...
  6. pmc A missense substitution A49T in the steroid 5-alpha-reductase gene (SRD5A2) is not associated with prostate cancer in Finland
    N Mononen
    Laboratory of Cancer Genetics, Dept of Clinical Chemistry, Institution of Medical Technology, University of Tampere and Tampere University Hospital, P O Box 2000, Tampere, FIN 33521, Finland
    Br J Cancer 84:1344-7. 2001
    Prostatic steroid 5-alpha-reductase gene (SRD5A2) encodes a critical enzyme involved in the conversion of testosterone to dihydrotestosterone...
  7. pmc Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients
    K Margiotti
    Dipartimento di Biopatologia e Diagnostica per Immagini, Sezione di Genetica, Universita Tor Vergata, Via di Tor Vergata 135, 00133 Rome, Italy
    Dis Markers 16:147-50. 2000
    We have investigated the contributions of three polymorphic markers in the SRD5A2 gene to prostate cancer in a group of Italian patients...
  8. ncbi V89L polymorphism of type-2, 5-alpha reductase enzyme gene predicts prostate cancer presence and progression
    R K Nam
    Division of Urology, Princess Margaret Hospital, University Health Network, University of Toronto, Toronto, Ontario, Canada
    Urology 57:199-204. 2001
    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...
  9. ncbi Polymorphic markers in the SRD5A2 gene and prostate cancer risk: a population-based case-control study
    A W Hsing
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, Maryland 20852 7234, USA
    Cancer Epidemiol Biomarkers Prev 10:1077-82. 2001
    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 ..
  10. ncbi Structure of human type II 5 alpha-reductase gene
    F Labrie
    Medical Research Council Group in Molecular Endocrinology, CHUL Research Center, Quebec, Canada
    Endocrinology 131:1571-3. 1992
    ..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...
  11. doi Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations
    L Maimoun
    Service d Hormonologie, Hopital Lapeyronie, CHU Montpellier et UMI, Montpellier, France
    Int J Androl 33:841-7. 2010
    ..We report three new SRD5A2 gene mutations in four newborns from France, Morocco and Turkey...
  12. ncbi Aromatase, steroid-5-alpha-reductase type 1 and type 2 mRNA expression in gonads and in brain of Xenopus laevis during ontogeny
    R Urbatzka
    Department of Inland Fisheries, Leibniz Institute of Freshwater Ecology and Inland Fisheries, Müggelseedamm 310, 12587 Berlin, Germany
    Gen Comp Endocrinol 153:280-8. 2007
    ..of amphibians, we determined the mRNA expression of steroid-5-alpha-reductase type1 (Srd5a1), type2 (Srd5a2) and aromatase (Aro) during ontogeny starting from the egg and ending after completion of metamorphosis in Xenopus ..
  13. pmc Isolated micropenis reveals partial androgen insensitivity syndrome confirmed by molecular analysis
    Amrit Bhangoo
    Pediatric Endocrinology Division of Maimonides Infants and Children s Hospital of Brooklyn, Children s Hospital at SUNY Downstate, Brooklyn, NY 11219, USA
    Asian J Androl 12:561-6. 2010
    ..with the genetic defects resulting in androgen resistance, that is, AR gene defects and 5-alpha reductase type 2 (SRD5A2) deficiency...
  14. ncbi Pharmacogenetics of human androgens and prostatic diseases
    G Novelli
    Dipartimento di Biopatologia e Diagnostica per Immagini, Universita di Roma Tor Vergata, 00133 Roma, Italy
    Pharmacogenomics 2:65-72. 2001
    ..focus first on constitutional ('germline') single nucleotide polymorphism (SNPs) at the steroid 5 alpha-reductase (SRD5A2) locus, which encodes the human prostatic (or Type II) steroid 5 alpha-reductase enzyme...
  15. pmc Codon 89 polymorphism in the human 5 alpha-reductase gene in primary breast cancer
    A Scorilas
    Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, Toronto, Ontario, M5G 1X5, Canada
    Br J Cancer 84:760-7. 2001
    The enzyme human steroid 5-alpha reductase type II (SRD5A2) and androgen receptor (AR) are critical mediators of androgen action, suggesting a potential role in hormonally related cancers...
  16. doi Cloning and differential expression of steroid 5 alpha-reductase type 1 (Srd5a1) and type 2 (Srd5a2) from the Harderian glands of hamsters
    Luis Ramos
    Department of Reproductive Biology, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico City, Mexico
    Gen Comp Endocrinol 166:388-95. 2010
    ..In this study, we isolated specific cDNAs for 5 alpha-reductase 1 (Srd5a1) and 5 alpha-reductase 2 (Srd5a2), determined their sequences and investigated their expression in the HG of both sexes...
  17. pmc Regulation of steroid 5-alpha reductase type 2 (Srd5a2) by sterol regulatory element binding proteins and statin
    Young Kyo Seo
    Department of Molecular Biology and Biochemistry, 3244 McGaugh Hall, University of California, UC Irvine, Irvine, CA 92697 3900, USA
    Exp Cell Res 315:3133-9. 2009
    In this study, we show that sterol regulatory element binding proteins (SREBPs) regulate expression of Srd5a2, an enzyme that catalyzes the irreversible conversion of testosterone to dihydroxytestosterone in the male reproductive tract ..
  18. doi Phenotype, hormonal profile and genotype of subjects with partial androgen insensitivity syndrome: report of a family with four adult males and one child with disorder of sexual differentiation
    B Kulshreshtha
    Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi 110029, India
    Andrologia 41:257-63. 2009
    ..It is not clear whether the better pubertal virilsation and higher testosterone are in any way causally related to the SRD5A2 gene defect.
  19. ncbi Expression of androgen receptor through androgen-converting enzymes is associated with biological aggressiveness in prostate cancer
    K Wako
    Division of Urology, Department of Regenerative and Transplant Medicine, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
    J Clin Pathol 61:448-54. 2008
    ..The association between the expression of androgen receptor (AR) or androgen-converting enzymes and malignant potential in prostate cancer (PCa) was examined...
  20. pmc Maintenance of intratumoral androgens in metastatic prostate cancer: a mechanism for castration-resistant tumor growth
    R Bruce Montgomery
    Department of Medicine, University of Washington School of Medicine, Weattle, WA, USA
    Cancer Res 68:4447-54. 2008
    ..up-regulated expression of FASN, CYP17A1, HSD3B1, HSD17B3, CYP19A1, and UGT2B17 and down-regulated expression of SRD5A2 (P < 0.001 for all)...
  21. ncbi Prostate cancer chemoprevention: Strategies for designing efficient clinical trials
    R Lieberman
    National Cancer Institute, Rockville, Maryland 20852, USA
    Urology 57:224-9. 2001
    ..protein (IGFBP)-3; 1, 25(OH)(2) D3; family history of PCa; carriers of PCa susceptibility genes [ELAC2, CYP3A4, SRD5A2, etc.]; and histology such as atypia and HGPIN) that could be combined into a multivariate risk model for PCa...
  22. ncbi A novel frameshift mutation in the 5alpha-reductase type 2 gene in Korean sisters with male pseudohermaphroditism
    Sung Hoon Kim
    Department of Obstetrics and Gynecology, College of Medicine, University of Ulsan, Asan Medical Center, Seoul, Korea
    Fertil Steril 85:750.e9-750.e12. 2006
    ..To describe two cases of 5alpha-reductase deficiency and the identification of a novel frameshift mutation in this sibling pair...
  23. doi Depot-specific steroidogenic gene transcription in human adipose tissue
    Scott M MacKenzie
    BHF Glasgow Cardiovascular Research Centre, University of Glasgow, Glasgow, United Kingdom
    Clin Endocrinol (Oxf) 69:848-54. 2008
    ....
  24. ncbi Impaired dihydrotestosterone catabolism in human prostate cancer: critical role of AKR1C2 as a pre-receptor regulator of androgen receptor signaling
    Qing Ji
    Department of Medicine, Keck School of Medicine, University of Southern California, 2011 Zonal Avenue, Los Angeles, CA 90033, USA
    Cancer Res 67:1361-9. 2007
    ..Decreased catabolism seems to account for the increased DHT levels as expression of AKR1C2 and SRD5A2 was reduced in these tumors compared with their paired benign tissues...
  25. doi Gene dosage imbalances in patients with 46,XY gonadal DSD detected by an in-house-designed synthetic probe set for multiplex ligation-dependent probe amplification analysis
    M Barbaro
    Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden
    Clin Genet 73:453-64. 2008
    ..DAX1) locus duplication on Xp21 in a patient with isolated partial gonadal dysgenesis and a duplication of the SRD5A2 gene that represents a rare normal variant...
  26. ncbi [Identification of mutations of SRD5A2 gene and SRY gene in patients with hypospadias]
    L Zhou
    Department of Pediatric Surgery, the First Affiliated Hospital of Sun Yat sen University of Medical Sciences, Guangzhou, Guangdong, 510080 P R China
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi 16:311-4. 1999
    To identify possible molecular mechanism underlined hypospadias and any relationship of the mutations of SRD5A2 gene and SRY gene to hypospadias.
  27. doi Differential expression of steroid 5alpha-reductase isozymes and association with disease severity and angiogenic genes predict their biological role in prostate cancer
    Kakoli Das
    Cancer Science Institute, Department of Pathology, National University Health System, National University of Singapore, 28 Medical Drive, Singapore
    Endocr Relat Cancer 17:757-70. 2010
    The biological role of steroid 5alpha-reductase isozymes (encoded by the SRD5A1 and SRD5A2 genes) and angiogenic factors that play important roles in the pathogenesis and vascularization of prostate cancer (PC) is poorly understood...
  28. doi Steroidogenesis inhibitors alter but do not eliminate androgen synthesis mechanisms during progression to castration-resistance in LNCaP prostate xenografts
    Jennifer A Locke
    The Prostate Centre at Vancouver General Hospital and Department of Urologic Sciences, University of British Columbia, British Columbia, Canada
    J Steroid Biochem Mol Biol 115:126-36. 2009
    ..Steroidogenesis inhibitors targeting CYP17A1 and SRD5A2 significantly altered but did not eliminate androgen synthesis from progesterone in steroid starved LNCaP cells ..
  29. pmc Genomic analysis of cancer tissue reveals that somatic mutations commonly occur in a specific motif
    Nick M Makridakis
    Department of Biochemistry and Molecular Biology, Institute for Genetic Medicine, Keck School of Medicine, University of Southern California USC, Los Angeles, California, USA
    Hum Mutat 30:39-48. 2009
    ..We sequenced 26 matched human prostate tumor and constitutional DNA samples for somatic alterations in the SRD5A2, HPRT, and HSD3B2 genes, and identified 71 nucleotide substitutions...
  30. doi Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development
    Min Nie
    Key Laboratory of Endocrinology, Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Shuai Fuyuan 1, Dongcheng District, Beijing 100730, People s Republic of China
    Mol Hum Reprod 17:57-62. 2011
    ..Mutations in the steroid-5-α-reductase (SRD5A2) gene, leading to functional impairment of 5α-reductase type 2, are responsible for this disorder...
  31. doi Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD
    Kerstin N Walter
    Department of Pediatrics and Adolescents Medicine, University Hospital Freiburg, Freiburg, Germany
    Horm Res Paediatr 74:67-71. 2010
    Steroid 5alpha-reductase deficiency (MIM*607306) caused by mutations in the SRD5A2 gene is characterized by a predominantly female phenotype at birth and significant virilization at puberty...
  32. ncbi [5alpha-reductase type 2 deficiency: experiences from Campinas (SP) and Salvador (BA)]
    Christine Hackel
    Departamento de Genética Médica, FMUFBA, Salvador, BA
    Arq Bras Endocrinol Metabol 49:103-11. 2005
    ..To report the experience regarding patients with steroid 5alpha-reductase type 2 deficiency from three different clinical services in Brazil...
  33. doi Combined analysis of multiple mRNA markers by RT-PCR assay for prostate cancer diagnosis
    Adriana F Neves
    Laboratory of Nanobiotechnology, Institute of Genetics and Biochemistry, Federal University of Uberlandia, Uberlandia, Minas Gerais, Brazil
    Clin Biochem 41:1191-8. 2008
    ....
  34. doi Association of SRD5A2 variants and serum androstane-3alpha,17beta-diol glucuronide concentration in Chinese elderly men
    Jieying Jiang
    Department of Chemical Pathology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China
    Clin Chem 56:1742-9. 2010
    Results of recent studies have demonstrated that genetic variants of the enzyme steroid 5α reductase type II (SRD5A2) are associated with serum concentrations of major androgen metabolites such as conjugates of androstane-3α,17β-diol-..
  35. ncbi Evaluation of genetic variations in the androgen and estrogen metabolic pathways as risk factors for sporadic and familial prostate cancer
    Julie M Cunningham
    Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA
    Cancer Epidemiol Biomarkers Prev 16:969-78. 2007
    ..Those genes tested included PRL, LHB, CYP11A1, HSD3B1, HSD3B2, HSD17B2, CYP17, SRD5A2, AKR1C3, UGT2B15, AR, SHBG, and KLK3 from the androgen pathway and CYP19, HSD17B1, CYP1A1, CYP1A2, CYP1B1, COMT, ..
  36. ncbi SRD5A2 gene mutations--a population-based review
    Ratika Samtani
    Research Scholar, Department of Anthropology, University of Delhi, Delhi 110007, India
    Pediatr Endocrinol Rev 8:34-40. 2010
    Knowledge of steroid 5 alpha-reductase type 2 (SRD5A2) gene mutations is expanding, and its role has been implicated in various disease susceptibilities concerning reproductive health...
  37. ncbi Choice of gender in 5alpha-reductase deficiency: a moving target
    Christopher P Houk
    Division of Pediatric Endocrinology, Department of Pediatrics, Penn State College of Medicine, The Milton S Hershey Medical Center, Hershey, PA 17033 0850, USA
    J Pediatr Endocrinol Metab 18:339-45. 2005
    Steroid 5alpha-reductase deficiency is a rare, male-limited autosomal recessive disorder caused by mutation in the SRD5A2 gene resulting in a deficiency of dihydrotestosterone (DHT) during fetal development...
  38. ncbi Ovarian cancer survival and polymorphisms in hormone and DNA repair pathway genes
    Christina M Nagle
    Cancer and Population Studies, Queensland Institute of Medical Research, PO Royal Brisbane Hospital, Queensland 4029, Australia
    Cancer Lett 251:96-104. 2007
    ..30; 95% CI=1.02-1.68, p= 0.04), and for the SRD5A2 V89L C allele (HR 0.79; 95% CI=0.62-1.01, p=0.06)...
  39. doi Polymorphisms in genes involved in androgen pathways as risk factors for prostate cancer
    Nina Mononen
    Laboratory of Cancer Genetics, Institute of Medical Technology, University of Tampere and Tampere University Hospital, Tampere, Finland
    J Urol 181:1541-9. 2009
    ..We reviewed the association of androgen pathway genes and their polymorphic sites, and the risk of prostate cancer in individuals of different ethnic backgrounds...
  40. doi Bioconversion of norethisterone, a progesterone receptor agonist into estrogen receptor agonists in osteoblastic cells
    Ana E Lemus
    Department of Reproductive Biology, Universidad Autonoma Metropolitana Iztapalapa, Mexico City P C 09340, Mexico
    J Endocrinol 200:199-206. 2009
    ..Expression of Srd5a1 in neonatal osteoblast was well demonstrated, whereas Srd5a2 expression was not detected...
  41. pmc Molecular mechanisms involving prostate cancer racial disparity
    David Hatcher
    Department of Pathology and Urology, New York University School of Medicine New York, NY
    Am J Transl Res 1:235-48. 2009
    ..been found among variants of the genes of the enzymes involved in androgen biosynthesis and metabolism, such as SRD5A2, CYP17, and CYP3A4...
  42. ncbi Prevalent mutations in prostate cancer
    Jin Tang Dong
    Department of Hematology and Oncology, Program in Genetics and Molecular Biology, Winship Cancer Institute, Emory University School of Medicine, 1365 C Clifton Road, Atlanta, GA 30322, USA
    J Cell Biochem 97:433-47. 2006
    ..in sporadic prostate cancer; AR, BRCA1, BRCA2, CHEK2 (RAD53), CYP17, CYP1B1, CYP3A4, GSTM1, GSTP1, GSTT1, PON1, SRD5A2, and VDR that have germline genetic variants associated with either hereditary and/or sporadic prostate cancer; ..
  43. doi A novel mutation of 5alpha-steroid reductase 2 deficiency (CD 65 ALA-PRO) with severe virilization defect in a Turkish family and difficulty in gender assignment
    Senay Savas Erdeve
    Department of Pediatrics, Division of Pediatric Endocrinology, Ankara University School of Medicine, Ulusoy 312 City No 16 B46, Cayyolu, 06830 Ankara, Turkey
    Eur J Pediatr 169:991-5. 2010
    Molecular genetic characterization of mutations in SRD5A2 gene is used as an essential procedure for the final diagnosis of 5alpha-reductase deficiency...
  44. ncbi Genetic analysis of male pattern baldness and the 5alpha-reductase genes
    J A Ellis
    Department of Physiology, The University of Melbourne, Parkville, Victoria, Australia
    J Invest Dermatol 110:849-53. 1998
    ..We conducted genetic association studies of the 5alpha-reductase enzyme genes (SRD5A1 on chromosome 5 and SRD5A2 on chromosome 2) using dimorphic intragenic restriction fragment length polymorphisms...
  45. doi SRD5A2 is associated with increased cortisol metabolism in schizophrenia spectrum disorders
    Nils Eiel Steen
    Section for Psychosis Research, Clinic of Mental Health and Addiction, Oslo University Hospital, Ulleval Hospital, P O Box 4956 Nydalen, 0424 Oslo, Norway
    Prog Neuropsychopharmacol Biol Psychiatry 34:1500-6. 2010
    ..We investigated whether five genes involved in cortisol metabolism were associated with altered activity of cortisol metabolizing enzymes in bipolar disorder (BD) and schizophrenia spectrum disorders (SCZ)...
  46. ncbi Genetic polymorphisms and prostate cancer risk
    Andrea Gsur
    Division of Applied and Experimental Oncology, Institute of Cancer Research, University of Vienna, Borschkegasse 8a, A 1090 Vienna, Austria
    World J Urol 21:414-23. 2004
    ..in etiology of the androgen receptor (AR), the prostate-specific antigen (PSA), 5alpha-reductase type II gene (SRD5A2), cytochrome P450c17alpha (CYP17), cytochrome P4503A4 (CYP3A4) and a putative hereditary PC susceptibility gene, ..
  47. ncbi Messenger ribonucleic acid levels of steroid 5 alpha-reductase 2 in human prostate predict the enzyme activity
    T G Söderström
    Department of Medical Laboratory Sciences and Technology, Karolinska Institutet, Division of Clinical Pharmacology, Huddinge University Hospital, SE 14186, Huddinge, Sweden
    J Clin Endocrinol Metab 86:855-8. 2001
    ..56). The strong association between 5 alpha-reductase activity at pH 5.5 and the 5 alpha-reductase 2-specific mRNA expression makes it possible to predict prostatic 5 alpha-reductase activity using core needle biopsies...
  48. ncbi Short tandem repeat (STR) replacements in UTRs and introns suggest an important role for certain STRs in gene expression and disease
    Donald E Riley
    Department of Urology, University of Washington, Seattle, WA 98195, USA
    Gene 344:203-11. 2005
    ..STR replacements expand the list of STR sequences that may contribute to genetic activity and to disease processes...
  49. doi Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic
    Marta Berra
    Department of Endocrinology, University College London Hospitals, 250 Euston Road, London NW1 2BU, UK
    Eur J Endocrinol 164:1019-25. 2011
    The late presentation of steroid 5α-reductase-2 (SRD5A2) deficiency in females is poorly characterised...
  50. ncbi Association of prostate cancer risk and aggressiveness to androgen pathway genes: SRD5A2, CYP17, and the AR
    Mine S Cicek
    Department of Cancer Biology, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA
    Prostate 59:69-76. 2004
    ..is an androgen-regulated organ and polymorphisms in genes involved in testosterone synthesis, in particular, SRD5A2 (A49T and V89L variants), CYP17 (MspAI variant), and the AR (CAG, GGC repeats), represent candidate risk factors ..
  51. ncbi Differential alterations in 5alpha-reductase type 1 and type 2 levels during development and progression of prostate cancer
    Lynn N Thomas
    Department of Biochemistry and Molecular Biology, Dalhousie University, Halifax, Nova Scotia, Canada
    Prostate 63:231-9. 2005
    ..However, inhibition of both 5alphaR isoenzymes causes a greater decrease in serum DHT. The aim of this study was to assess differential expression of these enzymes at various stages of PCa development...
  52. doi Semicomprehensive analysis of the postnatal age-related changes in the mRNA expression of sex steroidogenic enzymes and sex steroid receptors in the male rat hippocampus
    Tetsuya Kimoto
    Department of Biophysics and Life Sciences, Graduate School of Arts and Sciences, The University of Tokyo, Tokyo 153 8902, Japan
    Endocrinology 151:5795-806. 2010
    ..of these enzymes/receptors at PD1 were Srd5a1 > Star > Ar ∼ Hsd17b4 ∼ Hsd17b1 ∼ Hsd17b7 ∼ Esr1 ∼ Srd5a2 > Hsd17b3 > Esr2 > Cyp11a1 > Cyp17a1 > Cyp19a1 ∼ Hsd17b2 > 3β-hydroxysteroid dehydrogenase I...
  53. doi Identification of mutations in the SRD5A2 gene in Thai patients with male pseudohermaphroditism
    Taninee Sahakitrungruang
    Department of Pediatrics, Division of Pediatric Endocrinology, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
    Fertil Steril 90:2015.e11-5. 2008
    To describe two unrelated Thai patients with suspected 5alpha-reductase type 2 deficiency and perform mutation analysis of the SRD5A2 gene.
  54. pmc A49T, V89L and TA repeat polymorphisms of steroid 5alpha-reductase type II and breast cancer risk in Japanese women
    Chunxia Yang
    Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, 1 1 Kanokoden, Chikusa ku, Nagoya 464 8681, Japan
    Breast Cancer Res 4:R8. 2002
    ..89 valine to leucine substitution (V89L) and TA repeat polymorphisms of the steroid 5alpha-reductase type II (SRD5A2) gene are considered functional with respect to enzyme activity converting testosterone into dihydrotestosterone...
  55. ncbi Testosterone enanthate therapy is effective and independent of SRD5A2 and AR gene polymorphisms in boys with micropenis
    Tomohiro Ishii
    Department of Pediatrics, Keio University School of Medicine, National Research Institute for Child Health and Development, Tokyo, Japan
    J Urol 172:319-24. 2004
    ..PL) 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.
  56. pmc Distinct patterns of dysregulated expression of enzymes involved in androgen synthesis and metabolism in metastatic prostate cancer tumors
    Nicholas Mitsiades
    Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA
    Cancer Res 72:6142-52. 2012
    ..levels for AR and several steroidogenic enzymes, including SRD5A1, SRD5A3, and AKR1C3, whereas expression of SRD5A2, CYP3A4, CYP3A5, and CYP3A7 was decreased. This aberrant expression was rarely associated with CNAs...
  57. ncbi Molecular diagnosis of 46,XY DSD and identification of a novel 8 nucleotide deletion in exon 1 of the SRD5A2 gene
    M R Nagaraja
    Department of Endocrinology and Metabolism, Institute of Medical Sciences, Varanas, India
    J Pediatr Endocrinol Metab 23:379-85. 2010
    ..Mutational analysis of androgen receptor (AR) and SRD5A2 genes was performed in 29 patients with 46,XY DSD, by PCR-SSCP...
  58. doi Altered expression of genes involved in progesterone biosynthesis, metabolism and action in endometrial cancer
    Maša Sinreih
    Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
    Chem Biol Interact 202:210-7. 2013
    ..metabolizing enzymes: the 3-keto and 20-ketosteroid reductases (AKR1C1-AKR1C3) and 5α-reductases (SRD5A1 and SRD5A2); and the opposing 20α-hydroxysteroid dehydrogenase (HSD17B2)...
  59. pmc Sex dependent influence of a functional polymorphism in steroid 5-α-reductase type 2 (SRD5A2) on post-traumatic stress symptoms
    Charles F Gillespie
    Department of Psychiatry and Behavioral Sciences, Emory University School of Medicine, Atlanta, Georgia 30329, USA
    Am J Med Genet B Neuropsychiatr Genet 162:283-92. 2013
    A non-synonymous, single nucleotide polymorphism (SNP) in the gene coding for steroid 5-α-reductase type 2 (SRD5A2) is associated with reduced conversion of testosterone to dihydrotestosterone (DHT)...
  60. doi SRD5A2 gene mutations and polymorphisms in Spanish 46,XY patients with a disorder of sex differentiation
    M Fernández-Cancio
    Unidad Investigación Endocrinología y Nutrición Pediátricas, Institut de Recerca, Hospital Vall d Hebron, CIBERER Centro de Investigación Biomédica en Red, Instituto de Salud Carlos III, Universitat Autonoma de Barcelona, Barcelona, Spain
    Int J Androl 34:e526-35. 2011
    ..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...
  61. doi Association of a tagging single nucleotide polymorphism in the androgen receptor gene region with susceptibility to severe hypospadias in a caucasian population
    T Adamovic
    Department of Women s and Children s Health, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden
    Sex Dev 7:173-9. 2013
    ..investigated 13 haplotype tagging single nucleotide polymorphisms (SNPs) covering the steroid-5-alpha reductase (SRD5A2) and androgen receptor(AR) gene region, respectively, in a cohort consisting of 260 individuals with mild ..
  62. doi Hypospadias risk and polymorphism in SRD5A2 and CYP17 genes: case-control study among Indian children
    Ratika Samtani
    Department of Anthropology, University of Delhi, Delhi, India
    J Urol 185:2334-9. 2011
    ..of the male urethra, we sought to investigate the association between 2 functional polymorphisms, CYP17-A1/A2 and SRD5A2-V89L, which are involved in the biosynthesis of testosterone and dihydrotestosterone, respectively, in relation to ..
  63. ncbi Polymorphisms in genes regulating androgen activity among prostate cancer low-risk Inuit men and high-risk Scandinavians
    Charlotte Giwercman
    Fertility Centre, Scanian Andrology Centre, Malmo University Hospital, Lund University, Malmo, Sweden
    Int J Androl 31:25-30. 2008
    ..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...
  64. ncbi Breast cancer: a candidate gene approach across the estrogen metabolic pathway
    Christina Justenhoven
    Molecular Mechanisms of Origin and Treatment of Breast Cancer, Dr Margarete Fischer Bosch Institute of Clinical Pharmacology, Auerbachstrasse 112, Stuttgart, Germany
    Breast Cancer Res Treat 108:137-49. 2008
    ..Of these CYP17A1, CYP19A1, EPHX1, HSD17B1, SRD5A2, and PPARG2 participate in biosynthesis, CYP1A1, CYP1B1, COMT, GSTP1, and SOD2 in catabolism and detoxification...
  65. doi Androgens and the molecular epidemiology of prostate cancer
    Lisa W Chu
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
    Curr Opin Endocrinol Diabetes Obes 15:261-70. 2008
    ..In this review, we summarize the current state of the literature and provide insights and direction for epidemiologic research on androgens and prostate cancer...
  66. ncbi Variant in sex hormone-binding globulin gene and the risk of prostate cancer
    Sonja I Berndt
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Bethesda, MD 20892 7240, USA
    Cancer Epidemiol Biomarkers Prev 16:165-8. 2007
    ..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...
  67. ncbi Genomic biomarkers, androgen pathway and prostate cancer
    Michela Biancolella
    Dipartimento di Biopatologia e Diagnostica per Immagini, Universita di Roma Tor Vergata, 00133 Roma, Italy
    Pharmacogenomics 8:645-61. 2007
    ..related to the biosynthesis and metabolism of androgens, such as steroid-5-alpha-reductase, alpha polypeptide 2 (SRD5A2), cytochrome P450 (CYP)19A1, CYP17A1, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 ..
  68. ncbi The relationship between a polymorphism in CYP17 with plasma hormone levels and prostate cancer
    C A Haiman
    Department of Epidemiology, Harvard School of Public Health, Boston, MA 02115, USA
    Cancer Epidemiol Biomarkers Prev 10:743-8. 2001
    ..between CYP17 genotype and plasma steroid hormones among controls and the potential interaction between CYP17 and SRD5A2 V89L polymorphisms in relationship with prostate cancer risk and circulating steroid hormone levels...
  69. ncbi Mutation analysis of five candidate genes in Chinese patients with hypospadias
    Yanping Wang
    Institute of Basic Medical Sciences, PUMC and CAMS, Beijing, 100005, China
    Eur J Hum Genet 12:706-12. 2004
    ..During fetal development, SRY, SOX9, WT1, SRD5A2 and AR are important at different stages in the differentiation and development of the male genital system...
  70. ncbi 5 alpha-reductase-2 gene mutations in the Dominican Republic
    L Q Cai
    Department of Medicine, New York Hospital Cornell University Medical College, New York 10021, USA
    J Clin Endocrinol Metab 81:1730-5. 1996
    ..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...
  71. ncbi Deletion of steroid 5 alpha-reductase 2 gene in male pseudohermaphroditism
    S Andersson
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235
    Nature 354:159-61. 1991
    ..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...
  72. pmc Wnt inhibitory factor 1 (Wif1) is regulated by androgens and enhances androgen-dependent prostate development
    Kimberly P Keil
    Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin Madison, Madison, WI 53706, USA
    Endocrinology 153:6091-103. 2012
    ..mouse UGM in which its expression temporally and spatially overlaps androgen-responsive steroid 5α-reductase 2 (Srd5a2). Wif1 mRNA is also present in prostatic buds during their elongation and branching morphogenesis...
  73. ncbi Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin
    Monica Fernandez-Cancio
    Unidad Investigación Endocrinología y Nutrición Pediátricas, Hospital Vall d Hebron, Barcelona, Spain
    J Androl 25:412-6. 2004
    The goal of this study was to perform 5-alpha-reductase type 2 gene (SRD5A2) analysis in a male pseudohermaphrodite (MPH) patient with normal testosterone (T) production and normal androgen receptor (AR) gene coding sequences...
  74. pmc Androgen Metabolism Gene Polymorphisms, Associations with Prostate Cancer Risk and Pathological Characteristics: A Comparative Analysis between South African and Senegalese Men
    Pedro Fernandez
    Department of Urology, Stellenbosch University, P O Box 19063, Cape Town 7505, South Africa
    Prostate Cancer 2012:798634. 2012
    ..Analyses of clinical data and CYP3A4, CYP3A5, and SRD5A2 genotypes were performed in South African White (120 cases; 134 controls), Mixed Ancestry (207 cases; 167 controls)..
  75. doi A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia
    Meng Che Tsai
    Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan
    Kaohsiung J Med Sci 28:231-5. 2012
    ..is a rare autosomal recessive 46,XY disorder of sex development caused by the mutated 5α-reductase type 2 (SRD5A2) gene...
  76. doi Hypospadias in a male (78,XY; SRY-positive) dog and sex reversal female (78,XX; SRY-negative) dogs: clinical, histological and genetic studies
    M Switonski
    Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland
    Sex Dev 6:128-34. 2012
    ..gene (case 1) and 2 candidates for monogenic hypospadias, namely MAMLD1 (mastermind-like domain containing 1) and SRD5A2 (steroid-5-alpha-reductase, alpha polypeptide 2)...
  77. doi Aetiology of hypospadias: a systematic review of genes and environment
    L F M van der Zanden
    Department of Epidemiology, Biostatistics and HTA, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Hum Reprod Update 18:260-83. 2012
    ..Most cases have an unknown aetiology, which is probably a mix of monogenic and multifactorial forms, implicating both genes and environmental factors. This review summarizes current knowledge about the aetiology of hypospadias...
  78. ncbi Polymorphisms in the androgen receptor and type II 5 alpha-reductase genes and prostate cancer prognosis
    Atsuko Shibata
    Department of Health Research and Policy, Stanford University School of Medicine, Stanford, California 94305 5405, USA
    Prostate 52:269-78. 2002
    Cytosine-adenine-guanine 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. ncbi Androgens, androgen receptors, and male gender role behavior
    J D Wilson
    Department of Internal Medicine, University of Texas Southwestern Medical Center, 5323 Harry Hines Boulevard, Dallas, Texas 75390 8857, USA
    Horm Behav 40:358-66. 2001
    ..The fact that all genetic males with 17 beta-HSD3 or 5 alpha-R2 deficiency do not change gender role behavior indicates that other factors are also important determinants of this process...
  80. doi Genetic polymorphisms of 17 β-hydroxysteroid dehydrogenase 3 and the risk of hypospadias
    Fumihiro Sata
    Department of Public Health, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Sex Med 7:2729-38. 2010
    ..In this regard, enzymes 17 β-hydroxysteroid dehydrogenase type 3 (17 β HSD3, encoded by HSD17B3) and steroid 5 α-reductase type 2 (encoded by SRD5A2) play crucial roles.
  81. doi 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
    Felipe Vilchis
    Departamento de Biologia de la Reproduccion, Instituto Nacional de Ciencias Medicas y Nutricion Salvador Zubiran, Mexico, D F, Mexico
    J Androl 31:358-64. 2010
    Inactivating mutations of the SRD5A2 gene result in steroid 5α-reductase 2 deficiency, an autosomal recessive disorder expressed as a male-limited disorder of sex development...
  82. ncbi Expression of the androgen receptor and 5 alpha-reductase type 2 in the developing human fetal penis and urethra
    Kun Suk Kim
    Department of Urology, University of California, San Francisco, San Francisco, California 94143, USA
    Cell Tissue Res 307:145-53. 2002
    ....
  83. pmc Gene expression in hair follicle dermal papilla cells after treatment with stanozolol
    M Reiter
    Physiology Weihenstephan Technische Universität München Weihenstephaner Berg 3, D 85354 Freising Germany
    Biomark Insights 4:1-8. 2008
    ..5alpha-Steroidreductases (SRD5A1, SRD5A2) represented the enzyme group...
  84. ncbi Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex development
    Jin Ho Choi
    Department of Pediatrics, Research Institute for Medical Sciences, Chungnam National University Hospital, College ofMedicine, Chungnam National University, Daejeon, Korea
    J Pediatr Endocrinol Metab 21:545-53. 2008
    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)...
  85. ncbi Sex, genes and blood pressure
    J A Ellis
    Department of Physiology, The University of Melbourne, Victoria, Australia
    Clin Exp Pharmacol Physiol 28:1053-5. 2001
    ..the androgen receptor (AR), oestrogen receptor alpha (ERalpha), 5alpha-reductase types I and II (SRD5A1 and SRD5A2) and aromatase (CYP19). 3. Systolic blood pressure (SBP) was linked (Z=3.3, genome-wide P < 0...
  86. ncbi Steroid 5-alpha reductase type II V89L substitution is not associated with risk of prostate cancer in a multiethnic population study
    Celeste L Pearce
    Department of Preventive Medicine and USC Norris Comprehensive Cancer Center and Hospital, University of Southern California Keck School of Medicine, Los Angeles, California 90089 9176, USA
    Cancer Epidemiol Biomarkers Prev 11:417-8. 2002
  87. pmc Quantitative trait loci predicting circulating sex steroid hormones in men from the NCI-Breast and Prostate Cancer Cohort Consortium (BPC3)
    Jiyoung Ahn
    Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
    Hum Mol Genet 18:3749-57. 2009
    ..8%, P = 7.37 x 10(-6)) and SRD5A2 with 3 alpha-androstanediol-glucuronide (rs2208532, mean difference = 11.8%, P = 1.82 x 10(-6))...
  88. ncbi Identification of novel aberrant methylation of BASP1 and SRD5A2 for early diagnosis of hepatocellular carcinoma by genome-wide search
    Toyoki Moribe
    Research Group, Molecular Diagnostics R and D Department, Roche Diagnostics K K, Minato ku, Tokyo 105 0014, Japan
    Int J Oncol 33:949-58. 2008
    ..corresponding non-tumor liver tissues from an independent cohort of HCC patients revealed that 2 genes, BASP1 and SRD5A2, were aberrantly methylated in only HCC tissues, though not in any corresponding non-tumor liver tissues...
  89. doi Changes in human placental 5alpha-reductase isoenzyme expression with advancing gestation: effects of fetal sex and glucocorticoid exposure
    Thi T Vu
    Mothers and Babies Research Centre and School of Biomedical Sciences, John Hunter Hospital Campus, University of Newcastle, Callaghan, NSW 2308, Australia
    Reprod Fertil Dev 21:599-607. 2009
    ..These findings suggest that the preterm neonate may have lower developmental exposure to 5alpha-reduced steroids and may lack steroid-mediated neuroprotection depending on fetal sex...
  90. ncbi Diagnosis of 5alpha-reductase 2 deficiency: a local experience
    Angel O K Chan
    Department of Pathology, Queen Elizabeth Hospital, Gascoigne Road, Hong Kong
    Hong Kong Med J 15:130-5. 2009
    ..Making a DNA-based diagnosis by studying the SRD5A2 gene has become increasingly popular...
  91. ncbi Polymorphisms of steroid 5-alpha-reductase type I (SRD5A1) gene are associated to peripheral arterial disease
    S S Signorelli
    Department of Internal Medicine and Systemic Disease, Medical Angiology Section, Faculty of Medicine, University of Catania, Catania, Italy
    J Endocrinol Invest 31:1092-7. 2008
    ..Steroid 5-alpha reductase isoenzymes (SRD5A1 and SRD5A2) catalyze the conversion to the bioactive potent androgen dihydrotestosterone and other reduced metabolites and ..
  92. ncbi Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred
    A E Thigpen
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235
    N Engl J Med 327:1216-9. 1992
  93. doi Genetics of hypospadias: are single-nucleotide polymorphisms in SRD5A2, ESR1, ESR2, and ATF3 really associated with the malformation?
    Loes F M van der Zanden
    Department of Epidemiology, Radboud University Nijmegen Medical Centre, P O Box 9101, 6500 HB Nijmegen, The Netherlands
    J Clin Endocrinol Metab 95:2384-90. 2010
    ..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...
  94. doi Polymorphisms in genes of the steroid hormone biosynthesis and metabolism pathways and endometrial cancer risk
    Katie A Ashton
    Discipline of Medical Genetics, School of Biomedical Sciences, Faculty of Health, University of Newcastle, Australia
    Cancer Epidemiol 34:328-37. 2010
    ..The environmental and reproductive risk factors that influence these hormones are well known, however, genetic variants involved in hormone biosynthesis and estrogen metabolism have not been well established in endometrial cancer...
  95. pmc Molecular genetics of steroid 5 alpha-reductase 2 deficiency
    A E Thigpen
    Department of Molecular Genetics, University of Texas Southwestern Medical Center, Dallas 75235
    J Clin Invest 90:799-809. 1992
    ..The 5 alpha-reductase type 2 gene (gene symbol SRD5A2) was cloned and shown to contain five exons and four introns...
  96. pmc Reduced bone mass and muscle strength in male 5α-reductase type 1 inactivated mice
    Sara H Windahl
    Centre for Bone and Arthritis Research, Institute of Medicine, Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden
    PLoS ONE 6:e21402. 2011
    ..are two well established isoenzymes of 5α-reductase (type 1 and type 2), encoded by separate genes (Srd5a1 and Srd5a2)...
  97. ncbi Two novel mutations of SRD5A2 gene in Indonesian siblings with clinical 5-alpha-reductase deficiency
    Nanis S Marzuki
    Eijkman Institute for Molecular Biology, Jakarta, Indonesia
    J Pediatr Endocrinol Metab 23:1329-33. 2010
    ..Over 50 different mutations of SRD5A2 gene has been described in affected patients and several mutations were detected in specific populations...
  98. ncbi Associations of polymorphisms in HPC2/ELAC2 and SRD5A2 genes with benign prostate hyperplasia in Turkish men
    Muzeyyen Izmirli
    Department of Medical Biology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey
    Asian Pac J Cancer Prev 12:731-3. 2011
    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...
  99. doi A novel SRD5A2 mutation with loss of function identified in Chinese patients with hypospadias
    Manna Zhang
    Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory of Endocrine Tumor, Shanghai Institute of Endocrinology and Metabolism, Rui Jin Hospital, Shanghai Jiao Tong University School of Medicine, China
    Horm Res Paediatr 76:44-9. 2011
    To investigate the functional change of SRD5A2 gene mutations identified in patients with 5α-reductase type 2 deficiency.
  100. ncbi [V89L polymorphism of the testosterone 5-alpha-reductase II gene and prognostic factors of prostate cancer]
    Ming Tong
    Department of Urology, The First Hospital Affiliated to Liaoning Medical College, Jinzhou, Liaoning 121001, China
    Zhonghua Nan Ke Xue 16:990-3. 2010
    To investigate the association of V89L polymorphism of the SRD5A2 gene with the prognostic factors of prostate cancer (PCa).
  101. doi Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients
    Laurent Maimoun
    Service d Hormonologie, Hopital Lapeyronie, Centre Hospitalier Universitaire CHU Montpellier and Université Montpellier I, 34295 Montpellier, France
    J Clin Endocrinol Metab 96:296-307. 2011
    ..Yet the cause of ambiguous genitalia may guide sex assignment, and rapid, precise diagnosis of 5α-reductase deficiency is essential...

Research Grants64

  1. 5 ALPHA REDUCTASE GENOTYPE, RACE PROSTATE CANCER RISK
    Laurence Kedes; Fiscal Year: 2003
    ..from the male hormone testosterone by the enzyme 5-alpha reductase which is encoded in the prostate by the SRD5A2 gene...
  2. 5 ALPHA REDUCTASE GENOTYPE, RACE PROSTATE CANCER RISK
    JUERGEN REICHARDT; Fiscal Year: 2002
    ..from the male hormone testosterone by the enzyme 5-alpha reductase which is encoded in the prostate by the SRD5A2 gene...
  3. Human aldo-keto reductases and nuclear receptor action
    TREVOR PENNING; Fiscal Year: 2009
    ..all steroidogenic enzymes after cholesterol in the same prostate specimens: Scc, CYP17A1, HSD3B2, AKR1C3, SRD5A1, SRD5A2, AKR1C2, AKR1C1, HSD17B2, HSD17B6, and UGT2B15 to determine if their levels correlate with the androgen levels ..
  4. Estrogen Metabolism and Action in Prostate Cancer Etiology in PCPT
    Ashraful Hoque; Fiscal Year: 2007
    The large-scale Prostate Cancer Prevention Trial (PCPT) (N = 18,882 randomized men) of the 5a-reductase (SRD5A2) inhibitor finasteride (versus placebo) found that inhibiting SRD5A2 from converting testosterone into dihydrotestosterone ..
  5. Prostate Cancer in Senegalese Men
    Serigne Gueye; Fiscal Year: 2005
    ..These genes include the cytochromes P450, CYP3A4 and CYP19, 5alpha-reductase II (SRD5A2), androgen receptor (AR), and the type II 3beta-hydroxy-steroid dehydrogenase (HSD3b2)...
  6. Ethnic difference in prostate cancer
    Timothy Rebbeck; Fiscal Year: 2009
    ..These genes include the cytochromes P450 CYP3A4, CYP3A5, CYP3A43, and CYP19, 5alpha-reductase II (SRD5A2), androgen receptor (AR), and the hydroxy-steroid dehydrogenases type II 3beta (HSD3B) and type 17beta (HSD17B)...
  7. Ethnic difference in prostate cancer
    Timothy Rebbeck; Fiscal Year: 2009
    ..These genes include the cytochromes P450 CYP3A4, CYP3A5, CYP3A43, and CYP19, 5alpha-reductase II (SRD5A2), androgen receptor (AR), and the hydroxy-steroid dehydrogenases type II 3beta (HSD3B) and type 17beta (HSD17B)...
  8. MOLECULAR EPIDEMIOLOGY OF PROSTATE CANCER
    Timothy Rebbeck; Fiscal Year: 2003
    ..S. Caucasians. These genes include the cytochromes P450 CYP3A4 and CYP19, 5alpha-reductase II (SRD5A2), androgen receptor (AR), and the type II 3beta-hydroxy-steroid dehydrogenase (HSD3beta2)...
  9. San Antonio Center - Biomarkers for Prostate Cancer
    Ian Thompson; Fiscal Year: 2007
    ..risk including a number of genetic variations (CAG repeat length in the androgen receptor, Semaphorins 3B and 3F, SRD5A2, and variations of the Vitamin D receptor) and body mass index (higher values associated with lower levels of PSA)...
  10. DETERMINANTS OF STEROID HORMONES IN BLACK AND WHITE MEN
    Susan Gapstur; Fiscal Year: 2006
    ..e., SRD5A2 V89L, IGF-1 CA repeat length, IGFBP-3 A/C, and SHBG TAAAA repeat length) with serum AAG, IGF-1, IGFBP-3 and SHBG ..
  11. Breast cancer and HRT: genetic susceptibility within th*
    Kathleen Malone; Fiscal Year: 2006
    ..and tagSNPs in the PGR gene, and the following progesterone metabolizing genes, AKR1C1, AKR1C2, AKR1C3, SRD5A1, SRD5A2, and the CYP3A4 gene...
  12. GENE-ENVIRONMENT INTERACTION IN PROSTATE CANCER
    Benjamin Rybicki; Fiscal Year: 2004
    ..e., diet, ultraviolet radiation), lifestyle (i.e., physical activity) and genetic (i.e., CYP17, CYP3A4, GSTP1, SRD5A2, vitamin D receptor, androgen receptor, metallothionein 2A, HSD3B2polyhmorphisms) risk factors are associated with ..
  13. MIS Regulation of Leydig Cell Development
    Mary Lee; Fiscal Year: 2007
    ..Because androgen production is so critical to male fertility, this work will improve our understanding of male reproductive health and fertility. ..
  14. Ethnic difference in prostate cancer
    Timothy R Rebbeck; Fiscal Year: 2010
    ..These genes include the cytochromes P450 CYP3A4, CYP3A5, CYP3A43, and CYP19, 5alpha-reductase II (SRD5A2), androgen receptor (AR), and the hydroxy-steroid dehydrogenases type II 3beta (HSD3B) and type 17beta (HSD17B)...
  15. Identifying Ovarian Cancer Susceptibility Alleles using Genome-Wide Scan Data
    CELESTE LEIGH contact PEARCE; Fiscal Year: 2010
    ..We will also fine map the five regions definitively shown to harbor an ovarian cancer susceptibility alleles and address a key methodological challenge faced in studies of these kinds. ..
  16. A Pooled Analysis to Identify New Ovarian Cancer Risk Factors
    Celeste Leigh Pearce; Fiscal Year: 2010
    ..Gaining a better understanding of ovarian cancer, which this project will provide, is critical to identifying women at risk and for improving the outcome for women who are diagnosed with this disease. ..
  17. A Pooled Analysis to Identify New Ovarian Cancer Risk Factors
    CELESTE PEARCE; Fiscal Year: 2009
    ..Gaining a better understanding of ovarian cancer, which this project will provide, is critical to identifying women at risk and for improving the outcome for women who are diagnosed with this disease. ..
  18. Vascular and Inflammatory Predictors of MCI Risk and Progression
    ROSEBUD ROBERTS; Fiscal Year: 2007
    ..The K01 award will culminate in an R01 application that will pave the way for the candidate to become an independent investigator in MCI and AD research. ..