The CYP19 gene codon 39 Trp/Arg polymorphism increases breast cancer risk in subsets of premenopausal Japanese.
The production of estrogen from androgen via the estrogen biosynthesis pathway is catalyzed by aromatase P450 (CYP19). To assess the association between breast cancer risk and a polymorphism at codon 39 Trp/Arg of the encoding gene, a case-control study was conducted at Aichi Cancer Center Hospital in Japan. Subjects were 248 histologically confirmed breast cancer patients and 603 hospital controls without cancer. Odds ratios (OR) and 95% confidence intervals (95% CI) were determined by logistic regression analysis. The allele frequency among controls was 3.8% for the C allele, and the OR (95% CI) of the polymorphism relative to TT genotype was 1.21 (0.69-2.14) for TC/CC genotypes combined. There was no association between CYP19 gene polymorphism and breast cancer risk in the study group as a whole, but homozygous and heterozygous carriers of the variant Arg allele showed a significantly increased risk of breast cancer among premenopausal women with a late age at first full-term pregnancy (OR 7.31, 95% CI 1.88-28.5) or a high body mass index (OR 2.77, 95% CI 1.12-6.87). Additional larger studies should be done to confirm that the rare CYP19 variant increases the risk of breast cancer among premenopausal Japanese women.
Hirose
Kaoru
K
Division of Epidemiology and Prevention, Aichi Cancer Center Research Institute, 1-1 Kanokoden Chikusa-ku, Nagoya 464-8681, Japan. khirose@aichi-cc.jp
Matsuo
Keitaro
K
Toyama
Tatsuya
T
Iwata
Hiroji
H
Hamajima
Nobuyuki
N
Tajima
Kazuo
K
D000328:Adult; D000367:Age Factors; D000368:Aged; D001141:Aromatase / Q000235:genetics*; D001483:Base Sequence; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D016022:Case-Control Studies; D003062:Codon; D016001:Confidence Intervals; D004273:DNA, Neoplasm; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D005838:Genotype; D006801:Humans; D007564:Japan / Q000453:epidemiology; D016015:Logistic Models; D008875:Middle Aged; D008969:Molecular Sequence Data; D009376:Neoplasms, Hormone-Dependent / Q000453:epidemiology / Q000235:genetics*; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D017698:Postmenopause; D017697:Premenopause; D015995:Prevalence; D012016:Reference Values; D018570:Risk Assessment
D003062:Codon; D004273:DNA, Neoplasm; D001141:Aromatase