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.
Publication types
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Research Support, Non-U.S. Gov't
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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3-Oxo-5-alpha-Steroid 4-Dehydrogenase / genetics*
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Adenocarcinoma / enzymology
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Adenocarcinoma / genetics*
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Aged
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Aged, 80 and over
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Amino Acid Substitution
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Androstane-3,17-diol / analogs & derivatives
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Androstane-3,17-diol / blood
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Codon / genetics
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Dinucleotide Repeats
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Ethnicity / genetics
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Gene Frequency
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Genetic Markers
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Genetic Predisposition to Disease
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Genotype
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Humans
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Italy / epidemiology
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Male
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Middle Aged
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Mutation, Missense
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Neoplasm Proteins / genetics
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Polymorphism, Genetic
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Prostatic Neoplasms / enzymology
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Prostatic Neoplasms / genetics*
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Risk
Substances
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Codon
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Genetic Markers
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Neoplasm Proteins
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Androstane-3,17-diol
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androstane-3,17-diol glucuronide
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3-Oxo-5-alpha-Steroid 4-Dehydrogenase