title: SRD5A2 gene polymorphisms affect the risk of breast cancer.
abstract: Androgens in breast cancer have been studied alone and in correlation with estrogens as estrogen to testosterone ratio. 5-α-reductase is one of the important enzymes participating in androgen metabolism, which affects androgen activity by affecting conversion of testosterone to dihydrotestosterone. We hypothesized that polymorphisms in the SRD5A2 gene (encoding 5-α-reductase) may affect breast cancer risk by affecting total androgen activity. Complete coding region of the SRD5A2 gene was sequenced in a group of 628 patients and 244 control samples from three southern states (Tamil Nadu, Andhra Pradesh, and Karnataka) of India. We observed three common polymorphisms in this gene; namely, A49T, V89L, and (TA)n repeats. A49T locus was monomorphic in the study population, but V89L showed a strong correlation with breast cancer (P = 0.03, OR = 1.40, CI = 1.02-1.91). (TA)0/(TA)9 and (TA)9/(TA)9 genotypes were at a lower risk of breast cancer (P = 0.01, OR = 0.64, CI = 0.46-0.90). We conclude that SRD5A2 genotypes significantly affect breast cancer risk in the South Indian populations.
authors.affiliation: CSIR - Centre for Cellular and Molecular Biology, Hyderabad, India.
authors.forename: Amirtharaj
authors.initials: A
authors.lastname: Francis
authors.affiliation: Division of Endocrinology, Central Drug Research Institute, Lucknow, India.
authors.forename: Saumya
authors.initials: S
authors.lastname: Sarkar
authors.affiliation: Department of Pathology, King George Medical University, Lucknow, India.
authors.forename: Singh
authors.initials: S
authors.lastname: Pooja
authors.affiliation: Department of Genetics, Osmania University, Hyderabad, India.
authors.forename: Daminani
authors.initials: D
authors.lastname: Surekha
authors.affiliation: Nizam's Institute of Medical Sciences, Hyderabad, India.
authors.forename: Digumarthi Raghunatha
authors.initials: DR
authors.lastname: Rao
authors.affiliation: Department of Pathology, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Lakshmi
authors.initials: L
authors.lastname: Rao
authors.affiliation: Department of Surgery, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Lingadakai
authors.initials: L
authors.lastname: Ramachandra
authors.affiliation: Department of Genetics, Osmania University, Hyderabad, India.
authors.forename: Satti
authors.initials: S
authors.lastname: Vishnupriya
authors.affiliation: Manipal Life Sciences Center, Manipal University, Manipal, India.
authors.forename: Kapaettu
authors.initials: K
authors.lastname: Satyamoorthy
authors.affiliation: CSIR - Centre for Cellular and Molecular Biology, Hyderabad, India. Electronic address: thangs@ccmb.res.in.
authors.forename: Kumarasamy
authors.initials: K
authors.lastname: Thangaraj
authors.affiliation: Division of Endocrinology, Central Drug Research Institute, Lucknow, India. Electronic address: rajender_singh@cdri.res.in.
authors.forename: Singh
authors.initials: S
authors.lastname: Rajender
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007194:India; D008207:Lymphatic Metastasis; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012307:Risk Factors; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase; C548468:SRD5A2 protein, human
keywords: Breast cancer; Polymorphism; SRD5A2 gene