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. 2002 Jun 7;16(3-4):147–150. doi: 10.1155/2000/683607

Evidence for an Association between the SRD5A2 (Type II Steroid 5α-Reductase) Locus and Prostate Cancer in Italian Patients

K Margiotti 1,2, F Sangiuolo 1, A De Luca 1, F Froio 3, C L Pearce 4, V Ricci-Barbini 5, F Micali 6, M Bonafè 7, C Franceschi 7, B Dallapiccola 8, G Novelli 1,*, J K V Reichardt 2
PMCID: PMC3851368  PMID: 11381197

Abstract

We have investigated the contributions of three polymorphic markers in the SRD5A2 gene to prostate cancer in a group of Italian patients. We have genotyped cases and controls for a polymorphic (TA)n dinucleotide repeat and two functional substitutions, A49T and V89L, substituting respectively alanine with threonine at codon 49, and valine to leucine at codon 89. We found a substantially increased but not significant risk associated with the 49T mutation and a reduction of risk for the V89L substitution. In conclusion, we report on preliminary evidence for both increased and decreased risk associated with separate markers at this locus.

Keywords: prostate cancer, SRD5A2 gene, prostate cancer risk, polymorphic variant

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