Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients.
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.
Margiotti
K
K
Dipartimento di Biopatologia e Diagnostica Per Immagini, Sezione di Genetica, Università "Tor Vergata", Via di Tor Vergata 135, 00133 Rome, Italy.
Sangiuolo
F
F
De Luca
A
A
Froio
F
F
Pearce
C L
CL
Ricci-Barbini
V
V
Micali
F
F
Bonafe
M
M
Franceschi
C
C
Dallapiccola
B
B
Novelli
G
G
Reichardt
J K
JK
D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000235:genetics*; D000230:Adenocarcinoma / Q000201:enzymology / Q000235:genetics*; D000368:Aged; D000369:Aged, 80 and over; D019943:Amino Acid Substitution; D015113:Androstane-3,17-diol / Q000031:analogs & derivatives / Q000097:blood; D003062:Codon / Q000235:genetics; D018900:Dinucleotide Repeats; D005006:Ethnicity / Q000235:genetics; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D009363:Neoplasm Proteins / Q000235:genetics; D011110:Polymorphism, Genetic; D011471:Prostatic Neoplasms / Q000201:enzymology / Q000235:genetics*; D012306:Risk
D003062:Codon; D005819:Genetic Markers; D009363:Neoplasm Proteins; D015113:Androstane-3,17-diol; C028895:androstane-3,17-diol glucuronide; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase