Non-synonymous polymorphisms in the circadian gene NPAS2 and breast cancer risk.
Three known non-synonymous polymorphisms (Ala394Thr, Ser471Leu and Pro690Ala) in the largest circadian gene, Neuronal PAS domain protein 2 (NPAS2), were genotyped in a breast cancer case-control study conducted in Connecticut, USA (431 cases and 476 controls). We found that women with the heterozygous Ala394Thr genotype were significantly associated with breast cancer risk compared to those with the common homozygous Ala394Ala (OR = 0.61, 0.46-0.81, P = 0.001). This is the first evidence demonstrating a role of the circadian gene NPAS2 in human breast cancer, suggesting that genetic variations in circadian genes might be a novel panel of biomarkers for breast cancer risk.
Zhu
Yong
Y
Department of Epidemiology and Public Health, Yale University School of Medicine, LEPH Room 702, New Haven, CT 06520, USA. yong.zhu@yale.edu
Stevens
Richard G
RG
Leaderer
Derek
D
Hoffman
Aaron
A
Holford
Theodore
T
Zhang
Yawei
Y
Brown
Heather N
HN
Zheng
Tongzhang
T
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D001943:Breast Neoplasms / Q000209:etiology / Q000235:genetics*; D002940:Circadian Rhythm / Q000235:genetics*; D005260:Female; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D012307:Risk Factors
D051792:Basic Helix-Loop-Helix Proteins; D009419:Nerve Tissue Proteins; C104264:NPAS2 protein, human