@article{TEXTUAL,
      recid = {10781},
      author = {Low, Siew-Kee and Takahashi, Atsushi and Ashikawa, Kyota  and Inazawa, Johji and Miki, Yoshio and Kubo, Michiaki and  Nakamura, Yusuke and Katagiri, Toyomasa},
      title = {Genome-Wide Association Study of Breast Cancer in the  Japanese Population},
      journal = {PLOS ONE},
      address = {2013-10-15},
      number = {TEXTUAL},
      abstract = {&lt;p&gt;Breast cancer is the most common malignancy among women  in worldwide including Japan. Several studies have  identified common genetic variants to be associated with  the risk of breast cancer. Due to the complex linkage  disequilibrium structure and various environmental  exposures in different populations, it is essential to  identify variants associated with breast cancer in each  population, which subsequently facilitate the better  understanding of mammary carcinogenesis. In this study, we  conducted a genome-wide association study (GWAS) as well as  whole-genome imputation with 2,642 cases and 2,099  unaffected female controls. We further examined 13  suggestive loci (&lt;em&gt;P&lt;/em&gt;&lt;1.0×10&lt;sup&gt;−5&lt;/sup&gt;) using an  independent sample set of 2,885 cases and 3,395 controls  and successfully validated two previously-reported loci,  rs2981578 (combined &lt;em&gt;P&lt;/em&gt;-value of  1.31×10&lt;sup&gt;−12&lt;/sup&gt;, OR = 1.23; 95% CI = 1.16–.30) on  chromosome 10q26 (&lt;em&gt;FGFR2&lt;/em&gt;), rs3803662 (combined  &lt;em&gt;P&lt;/em&gt;-value of 2.79×10&lt;sup&gt;−11&lt;/sup&gt;, OR = 1.21; 95%  CI = 1.15–.28) and rs12922061 (combined &lt;em&gt;P&lt;/em&gt;-value of  3.97×10&lt;sup&gt;−10&lt;/sup&gt;, OR = 1.23; 95% CI = 1.15–.31) on  chromosome 16q12 (&lt;em&gt;TOX3-LOC643714&lt;/em&gt;). Weighted  genetic risk score on the basis of three significantly  associated variants and two previously reported breast  cancer associated loci in East Asian population revealed  that individuals who carry the most risk alleles in  category 5 have 2.2 times higher risk of developing breast  cancer in the Japanese population than those who carry the  least risk alleles in reference category 1. Although we  could not identify additional loci associated with breast  cancer, our study utilized one of the largest sample sizes  reported to date, and provided genetic status that  represent the Japanese population. Further local and  international collaborative study is essential to identify  additional genetic variants that could lead to a better,  accurate prediction for breast cancer.&lt;/p&gt;},
      url = {http://knowledge.uchicago.edu/record/10781},
}