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

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. doi Genetic variation of genes involved in dihydrotestosterone metabolism and the risk of prostate cancer
    Sunita R Setlur
    Department of Pathology, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Cancer Epidemiol Biomarkers Prev 19:229-39. 2010
  4. 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
  5. 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
  6. pmc 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
  7. 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
  8. 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
  9. 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
  10. ncbi New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2
    Christine Hackel
    Centro de Biologia Molecular e Engenharia Genetica, Universidade Estadual de Campinas UNICAMP, Campinas, SP, Brazil
    J Mol Med (Berl) 83:569-76. 2005

Research Grants

  1. DONNA LORRAINE WHITE; Fiscal Year: 2014
  2. Genetics and the Environment Associated with Male Reproduction (GEAR)
    Sheela Sathyanarayana; Fiscal Year: 2012
  3. MOLECULAR EPIDEMIOLOGY OF BIRTH DEFECTS
    Jeanne Manson; Fiscal Year: 2001
  4. 5 ALPHA REDUCTASE GENOTYPE, RACE PROSTATE CANCER RISK
    Laurence Kedes; Fiscal Year: 2003
  5. Androgen Pathway and Genetic Risk of Prostate Cancer
    Noel Weiss; Fiscal Year: 2002
  6. Estrogen Metabolism and Action in Prostate Cancer Etiology in PCPT
    Ashraful Hoque; Fiscal Year: 2007
  7. Prostate Cancer in Senegalese Men
    Serigne Gueye; Fiscal Year: 2005
  8. DETERMINANTS OF STEROID HORMONES IN BLACK AND WHITE MEN
    Susan Gapstur; Fiscal Year: 2006
  9. Breast cancer and HRT: genetic susceptibility within th*
    Kathleen Malone; Fiscal Year: 2006
  10. GENETIC SUSCEPTIBILITY TO CANCER IN MULTIETHNIC COHORTS
    Brian Henderson; Fiscal Year: 2000

Detail Information

Publications188 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. doi Genetic variation of genes involved in dihydrotestosterone metabolism and the risk of prostate cancer
    Sunita R Setlur
    Department of Pathology, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Cancer Epidemiol Biomarkers Prev 19:229-39. 2010
    ..Given PCA's strong genetic component, we evaluated the possibility that variation in genes involved in DHT metabolism influence PCA risk...
  4. 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...
  5. 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...
  6. pmc 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...
  7. 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...
  8. 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...
  9. 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...
  10. ncbi New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2
    Christine Hackel
    Centro de Biologia Molecular e Engenharia Genetica, Universidade Estadual de Campinas UNICAMP, Campinas, SP, Brazil
    J Mol Med (Berl) 83:569-76. 2005
    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...
  11. ncbi 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
    Mark O Goodarzi
    Department of Ob Gyn and Center for Androgen Related Disorders, Cedars Sinai Medical Center, 8635 West Third Street, Suite 160W, Los Angeles, CA 90048, USA
    J Clin Endocrinol Metab 91:4085-91. 2006
    Despite the importance of dihydrotestosterone 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).
  12. ncbi 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
    Sara Lindstrom
    Department of Radiation Sciences, Oncology, Umea University, Umea, Sweden
    Cancer Res 66:11077-83. 2006
    ..hormone-regulating genes androgen receptor (AR), cytochrome P450 (CYP17), and steroid-5-alpha-reductase type 2 (SRD5A2)...
  13. ncbi The association of 5alpha-reductase II (SRD5A2) and 17 hydroxylase (CYP17) gene polymorphisms with prostate cancer patients in the Turkish population
    Ilke Hacer Onen
    Department of Medical Biology and Genetics, Faculty of Medicine, Gazi University, Besevler, Ankara, Turkey
    DNA Cell Biol 26:100-7. 2007
    ..It is thought that polymorphisms of 5alpha-reductase II (SRD5A2) and 17 hydroxylase (CYP17) genes are likely to increase susceptibility...
  14. pmc No association between the SRD5A2 gene A49T missense variant and prostate cancer risk: lessons learned
    C Leigh Pearce
    1Department of Preventive Medicine, University of Southern California, Los Angeles, CA 90033, USA
    Hum Mol Genet 17:2456-61. 2008
    The steroid 5-alpha reductase type II gene (SRD5A2) encodes the enzyme which converts testosterone (T) to the more active androgen dihydrotestosterone...
  15. doi The SRD5A2 V89L polymorphism is associated with severity of disease in men with early onset prostate cancer
    John K Scariano
    Department of Pathology and Internal Medicine, University of New Mexico School of Medicine, Albuquerque, New Mexico 87131 0001, USA
    Prostate 68:1798-805. 2008
    ..Steroid 5-alpha reductase type II (SRD5A2) catalyzes the irreversible conversion of T to DHT in male reproductive organs...
  16. doi Single and multigenic analysis of the association between variants in 12 steroid hormone metabolism genes and risk of prostate cancer
    Joke Beuten
    Department of Cellular and Structural Biology, The University of Texas Health Science Center, San Antonio, Texas 78229 3900, USA
    Cancer Epidemiol Biomarkers Prev 18:1869-80. 2009
    ..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)...
  17. doi SRD5A polymorphisms and biochemical failure after radical prostatectomy
    Etienne Audet-Walsh
    Pharmacogenomics Laboratory, Centre Hospitalier Universitaire de Québec CHUQ Research Centre and Faculty of Pharmacy, Laval University, Quebec, Canada
    Eur Urol 60:1226-34. 2011
    ..The relationship between inherited germ-line variations in the 5α-reductase pathways of androgen biosynthesis and the risk of biochemical recurrence (BCR) after radical prostatectomy (RP) remains an unexplored area...
  18. doi Steroid 5-alpha-reductase type 2 (SRD5A2) V89L and A49T polymorphisms and sporadic prostate cancer risk: a meta-analysis
    Qiaoxin Li
    Cancer Research Laboratory, Fudan University Shanghai Cancer Institute, Shanghai, China
    Mol Biol Rep 40:3597-608. 2013
    Steroid 5-α-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...
  19. 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...
  20. 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...
  21. 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...
  22. 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...
  23. 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 ..
  24. 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...
  25. 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 ..
  26. 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...
  27. 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...
  28. 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...
  29. 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 ..
  30. 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.
  31. 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...
  32. 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)...
  33. 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...
  34. 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...
  35. 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...
  36. 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
    ....
  37. 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...
  38. 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.
  39. 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...
  40. 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...
  41. 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 ..
  42. 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...
  43. 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...
  44. 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...
  45. 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, ..
  46. 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-..
  47. 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...
  48. 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...
  49. 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...
  50. 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; ..
  51. 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)...
  52. 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...
  53. 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...
  54. 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...
  55. 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...
  56. 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, ..
  57. 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...
  58. 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...
  59. ncbi Inhibition of androgen synthesis in human testicular and prostatic microsomes and in male rats by novel steroidal compounds
    I P Nnane
    Department of Pharmacology and Experimental Therapeutics, University of Maryland School of Medicine, Baltimore 21201, USA
    Endocrinology 140:2891-7. 1999
    ..Although future improvements in their bioavailability are necessary, these novel steroidal compounds show promise as potential agents for reducing T and DHT levels in patients with androgen dependent diseases...
  60. 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...
  61. ncbi Tests for genetic association using family data
    Mei Chiung Shih
    Department of Health Research and Policy, Stanford University, Stanford, California 94305, USA
    Genet Epidemiol 22:128-45. 2002
    ..We illustrate the tests by applying them to data on a polymorphism of the SRD5A2 gene in nuclear families with multiple cases of prostate cancer...
  62. ncbi Impact of constitutional genetic variation in androgen/oestrogen-regulating genes on age-related changes in human prostate
    Abdel Rahmene Azzouzi
    CeRePP EA3104, Universite Paris VII, Genopole, 4 rue Pierre Fontaine, Evry F 91000, France
    Eur J Endocrinol 147:479-84. 2002
    ..We have evaluated the correlation between specific genotypes in androgen- and oestrogen-regulating genes (AR, SRD5A2, CYP17 and CYP19), and age-related prostatic changes.
  63. ncbi Evaluation of SRD5A2 sequence variants in susceptibility to hereditary and sporadic prostate cancer
    Bao Li Chang
    Center for Human Genomics, Wake Forest University School of Medicine, Winston Salem, North Carolina 27157, USA
    Prostate 56:37-44. 2003
    The 5 alpha-reductase type II (SRD5A2) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT), and is thus believed to be the key enzyme for the control of intracellular DHT level in the prostate...
  64. ncbi A common polymorphism within the steroid 5-alpha-reductase type 2 gene and timing of menopause in Caucasian women
    Ambros Huber
    Department of Obstetrics and Gynecology, Medical University of Vienna, Waehringer Guertel 18 20, A 1090 Vienna, Austria
    Eur J Obstet Gynecol Reprod Biol 125:221-5. 2006
    ..We evaluated the association between a common polymorphism of the steroid 5-alpha-reductase type 2 gene (SRD5A2) involved in androgen metabolism and the timing of menopause.
  65. 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
    ....
  66. doi Role of hormonal genes and risk of prostate cancer: gene-gene interactions in a North Indian population
    R C Sobti
    Department of Biotechnology, Panjab University, Chandigarh, India
    Cancer Genet Cytogenet 185:78-85. 2008
    ..Genetic polymorphism of the ER, CYP17, SRD5A2 (TA repeats), and PSA genes were analyzed in 157 cases of prostate cancer and 340 controls [170 healthy males and ..
  67. doi Effect of polymorphisms in selected genes involved in pituitary-testicular function on reproductive hormones and phenotype in aging men
    Ilpo T Huhtaniemi
    Department of Surgery and Cancer, Imperial College London, Hammersmith Campus, Du Cane Road, London W12 0NN, United Kingdom
    J Clin Endocrinol Metab 95:1898-908. 2010
    ..Polymorphisms in genes involved in regulation, biosynthesis, metabolism, and actions of testicular sex hormones may influence hormone balance and phenotype of aging men...
  68. 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)...
  69. doi Aldo-keto reductases AKR1C1, AKR1C2 and AKR1C3 may enhance progesterone metabolism in ovarian endometriosis
    N Hevir
    Institute of Biochemistry, Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
    Chem Biol Interact 191:217-26. 2011
    ..Additionally, 5α-reductase types 1 and 2 (SRD5A1, SRD5A2) and 5β-reductase (AKR1D1) are responsible for the formation of 5α- and 5β-reduced pregnanes...
  70. doi Inhibitors of testosterone biosynthetic and metabolic activation enzymes
    Leping Ye
    The 2nd Affiliated Hospital, Wenzhou Medical College, Wenzhou, Zhejiang 325000, China
    Molecules 16:9983-10001. 2011
    ..activated into more potent androgen dihydrotestosterone by two isoforms 5α-reductase 1 (SRD5A1) and 2 (SRD5A2) in Leydig cells and peripheral tissues...
  71. ncbi The earlier described mutation (c.307c > T [p.R103X]) in the SRD5A2 gene causing a 46,XY female phenotype
    Enver Simsek
    Department of Pediatric Endocrinology, School of Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey
    J Pediatr Endocrinol Metab 25:543-5. 2012
    Deletions and mutations in the 5-alpha-reductase type 2 (SRD5A2) gene have been identified in 46,XY disorders of sexual differentiation (DSD)...
  72. doi Androgen and androgen-metabolizing enzymes in metastasized lymph nodes of breast cancer
    Yukiko Shibahara
    Department of Pathology, Tohoku University Graduate School of Medicine, 2 1 Seiryo machi, Aobaku, Sendai, Miyagi, Japan, 980 8575 Electronic address
    Hum Pathol 44:2338-45. 2013
    ....
  73. doi Current perspectives on the androgen 5 alpha-dihydrotestosterone (DHT) and 5 alpha-reductases in teleost fishes and amphibians
    Christopher J Martyniuk
    University of New Brunswick and Canadian River Institute, NB E2L 4L5, Canada Electronic address
    Gen Comp Endocrinol 194:264-74. 2013
    ..e., srd5a1, srd5a2, and srd5a3)...
  74. doi Sediment contaminated with the Azo Dye disperse yellow 7 alters cellular stress- and androgen-related transcription in Silurana tropicalis larvae
    Justine Mathieu-Denoncourt
    Chemistry and Chemical Engineering Department, Royal Military College of Canada, Kingston, Ontario, Canada K7K 7B4
    Environ Sci Technol 48:2952-61. 2014
    ..The same treatment also altered the expression of two androgen-related genes: decreased ar (2-fold) and increased srd5a2 (2.6-fold). Furthermore, transcriptomics generated new hypotheses regarding the mechanisms of toxic action of DY7...
  75. doi Try235Phe homozygous mutation of the steroid 5-a reductase type 2 (SRD5A2) gene in a Turkish patient
    Mesut Parlak
    Mesut Parlak, Department of Pediatric Endocrinology, Antalya Education and Research Hospital, Antalya, 07050, Turkey T 90 2422494400, F 90 2422494462
    Ann Saudi Med 34:254-6. 2014
    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...
  76. pmc Dietary tomato and lycopene impact androgen signaling- and carcinogenesis-related gene expression during early TRAMP prostate carcinogenesis
    Lei Wan
    Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio Interdisciplinary Nutrition Program, The Ohio State University, Columbus, Ohio
    Cancer Prev Res (Phila) 7:1228-39. 2014
    ..involved in androgen metabolism/signaling pathways is reduced by lycopene feeding (Srd5a1) and by tomato feeding (Srd5a2, Pxn, and Srebf1)...
  77. pmc DNA methyl transferase 1 reduces expression of SRD5A2 in the aging adult prostate
    Rongbin Ge
    Department of Urology, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts
    Am J Pathol 185:870-82. 2015
    5-α Reductase type 2 (SRD5A2) is a critical enzyme for prostatic development and growth. Inhibition of SRD5A2 by finasteride is used commonly for the management of urinary obstruction caused by benign prostatic hyperplasia...
  78. ncbi SRD5A2 gene polymorphisms and the risk of benign prostatic hyperplasia but not prostate cancer
    Vimal Kumar Choubey
    Department of Urology, King George Medical University, Lucknow, India E mail
    Asian Pac J Cancer Prev 16:1033-6. 2015
    ..males, is converted into its most active form, dihydrotestosterone (DHT), by 5α-reductase type 2 (encoded by the SRD5A2 gene) in the prostate...
  79. doi Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China
    Jing Cheng
    Department of Genetics and Endocrinology, Guangzhou Women and Children s Medical Center, Guangzhou, Guangdong, China
    Clin Endocrinol (Oxf) 83:518-26. 2015
    ..To identify the disorder, mutational analysis of 5α-reductase type 2 gene (SRD5A2) is a reliable approach. The genotype-phenotype relationship has not been elucidated.
  80. doi Single-nucleotide polymorphism in the 5-α-reductase gene (SRD5A2) is associated with increased prevalence of metabolic syndrome in chemotherapy-treated testicular cancer survivors
    Hink Boer
    Medical Oncology, University Medical Center Groningen, University of Groningen, The Netherlands
    Eur J Cancer 54:104-11. 2016
    ..Polymorphisms in the gene encoding steroid 5-α-reductase type II (SRD5A2) are involved in altered androgen metabolism...
  81. pmc Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene
    Asma Deeb
    Mafraq Hospital, Clinic of Pediatric Endocrinology, Abu Dhabi, United Arab Emirates, Phone 971 50 8350568 E mail
    J Clin Res Pediatr Endocrinol 8:236-40. 2016
    ..It is caused by a mutation in the SRD5A2 gene in which various mutation types have been reported...
  82. doi Transcript levels of genes implicated in steroidogenesis in the testes and fat tissue in relation to androstenone accumulation in fat of pubertal pigs
    A Robic
    GenPhySE, Universite de Toulouse, INRA, INPT, ENVT, Castanet Tolosan 31320, France Electronic address
    Domest Anim Endocrinol 57:1-9. 2016
    ..The absence of significant correlations between fat androstenone and the transcriptional activity of the SRD5A2 and SRD5A3 genes but the high correlation coefficient with that of the SRD5A1 gene (r = 0.62, P < 0...
  83. ncbi Association of single-nucleotide polymorphism (SNP) in the 5-alpha-reductase gene (SRD5A2) with increased prevalence of metabolic syndrome in chemotherapy-treated testicular cancer (TC) survivors
    H Boer
    Department of Medical Oncology, University Medical Center Groningen, Groningen, Netherlands University Medical Center Groningen, Groningen, Netherlands Department of Epidemiology, University Medical Center Groningen, Groningen, Netherlands Department of Vascular Medicine, University Medical Center Groningen, Groningen, Netherlands
    J Clin Oncol 29:4564. 2011
    ..Polymorphisms in the androgen receptor (AR) gene and in SRD5A2 are involved in altered androgen sensitivity, which in turn could result in the metabolic syndrome...
  84. 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...
  85. 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 ..
  86. 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.
  87. 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...
  88. 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.
  89. 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...
  90. 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...
  91. 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...
  92. 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...
  93. 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...
  94. 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...
  95. 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...
  96. 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 ..
  97. 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...
  98. 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...
  99. 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...
  100. 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 ..
  101. 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...

Research Grants20

  1. DONNA LORRAINE WHITE; Fiscal Year: 2014
    ..g., 5[unreadable]-reductase 2 (SRD5A2)) are associated with risk of advanced biopsy-determined hepatic fibrosis in Caucasian males with chronic ..
  2. Genetics and the Environment Associated with Male Reproduction (GEAR)
    Sheela Sathyanarayana; Fiscal Year: 2012
    ..Polymorphisms in several genes including AR, SRD5A2, INSL3/LGR8, ESR1, ESR2, ATF3, CTGF, and CYR61 are associated with adverse male reproductive development...
  3. MOLECULAR EPIDEMIOLOGY OF BIRTH DEFECTS
    Jeanne Manson; Fiscal Year: 2001
    ..The hypothesis of the proposed research study is that allelic variants in the steroid 5-alpha reductase type 2 (SRD5A2) gene (susceptible genotype) resulting in decreased 5 alpha reductase enzyme activity will be highly associated ..
  4. 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...
  5. Androgen Pathway and Genetic Risk of Prostate Cancer
    Noel Weiss; Fiscal Year: 2002
    ..Specifically the genes of interest encode: (1) steroid 5 alpha-reductase type II (SRD5A2), which bioactivates androgens in the prostate; (2) androgen receptor (AR), an androgen-dependent nuclear ..
  6. 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 ..
  7. 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)...
  8. 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 ..
  9. 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...
  10. GENETIC SUSCEPTIBILITY TO CANCER IN MULTIETHNIC COHORTS
    Brian Henderson; Fiscal Year: 2000
    ..Specifically, this proposal will investigate polymorphisms in candidate genes (NAT2, GSTM1, CYP1A1, SRD5A2, AR, EDH17B2, CYP17, and ER), that might alter metabolism of relevant endogenous or exogenous exposures and their ..
  11. The Progesterone Receptor Gene and Ovarian Cancer Risk
    CELESTE PEARCE; Fiscal Year: 2005
    ..We will also test our previous two case-control studies for any additional identified SNPs, including 326 cases and 493 controls (many of the SNPs have already been tested in these populations). ..
  12. Targeting of the Androgen Receptor in Prostate Cancer
    John Isaacs; Fiscal Year: 2005
    ..These peptide prodrugs will be designed so that they are substrates for the enzymatic activity of either Prostate Specific Antigen. ..
  13. Ovarian Cancer and Gonadotropin Signaling
    CELESTE PEARCE; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  14. Modifiers of Cancer Risk in BRCA 1/2 Mutation Carriers
    Timothy Rebbeck; Fiscal Year: 2008
    ..Our substantial multidisciplinary experience will therefore allow us to readily translate basic science and epidemiological data to clinically relevant information. ..
  15. Prophytactic surgery in carriers of BRCA 1/2 mutations
    Timothy R Rebbeck; Fiscal Year: 2010
    ..These studies will motivate future studies of BRCA1/2-associated breast tumor biology, prevention, and treatment. ..
  16. Genetic Polymorphisms Benign Prostatic Hyperplasia
    ROSEBUD ROBERTS; Fiscal Year: 2004
    ..CYP11A1, CYP17, CYP19, 3Beta hydroxysteroid dehydrogenase, 17BETA hydroxysteroid dehydrogenase types 2,3, 5, and SRD5A2 genes...
  17. ETIOLOGIC HETEROGENEITY IN LATE ONSET BREAST CANCER
    Timothy Rebbeck; Fiscal Year: 2001
    ..The results of these analyses will be used to attempt to elucidate the complex, multifactorial aetiology of late onset breast cancer. ..
  18. Vascular and Inflammatory Predictors of MCI Risk and Progression
    ROSEBUD ROBERTS; Fiscal Year: 2008
    ..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. [unreadable] [unreadable] [unreadable]..
  19. 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. ..
  20. 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)...