Affiliations: Dipartimento di Biopatologia e Diagnostica Per
Immagini, Sezione di Genetica, Universit\`a ``Tor Vergata'', Via di Tor Vergata
135, 00133 Rome, Italy | Institute for Genetic Medicine, Department of
Biochemistry and Molecular Biology, USC Keck School of Medicine, Los Angeles,
USA | Servizio di Patologia Clinica, Ospedale Villa San
Pietro, Fatebenefratelli, Rome, Italy | Department of Preventive Medicine, Norris
Comprehensive Cancer Center, USC Keck School of Medicine, Los Angeles,
USA | Divisione di Urologia, Ospedale CSS, IRCCS, San
Giovanni Rotondo, Italy | Dipartimento di Biopatologia e Diagnostica Per
Immagini Sezione di Urologia, Universit\`a ``Tor Vergata'', Rome, Italy | Dipartimento di Patologia Sperimentale, Universit\`a
di Bologna, Bologna, Italy | Dipartimento di Medicina Sperimentale e Patologia,
Universit\`a di Roma ``La Sapienza'' and CSS-Mendel Institute, Rome,
Italy
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)_{\rm
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
Journal: Disease Markers, vol. 16, no. 3-4, pp. 147-150, 2000
