Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN, USA.
Department of Preventive Medicine, Chonnam National University Medical School, Hwasun, Korea.
Nat Commun. 2020 Mar 5;11(1):1217. doi: 10.1038/s41467-020-15046-w.
Known risk variants explain only a small proportion of breast cancer heritability, particularly in Asian women. To search for additional genetic susceptibility loci for breast cancer, here we perform a meta-analysis of data from genome-wide association studies (GWAS) conducted in Asians (24,206 cases and 24,775 controls) and European descendants (122,977 cases and 105,974 controls). We identified 31 potential novel loci with the lead variant showing an association with breast cancer risk at P < 5 × 10. The associations for 10 of these loci were replicated in an independent sample of 16,787 cases and 16,680 controls of Asian women (P < 0.05). In addition, we replicated the associations for 78 of the 166 known risk variants at P < 0.05 in Asians. These findings improve our understanding of breast cancer genetics and etiology and extend previous findings from studies of European descendants to Asian women.
已知的风险变异仅能解释一小部分乳腺癌的遗传性，特别是在亚洲女性中。为了寻找乳腺癌的其他遗传易感性基因座，我们对亚洲人群（24206 例病例和 24775 例对照）和欧洲后裔（122977 例病例和 105974 例对照）的全基因组关联研究（GWAS）数据进行了荟萃分析。我们确定了 31 个具有潜在新基因座的候选基因座，其主要变异与乳腺癌风险相关，P 值均小于 5×10。其中 10 个基因座的关联在亚洲女性的另一个独立样本中得到了验证（16787 例病例和 16680 例对照；P 值均小于 0.05）。此外，我们还在亚洲人群中复制了 78 个已知风险变异的关联（P 值均小于 0.05）。这些发现增进了我们对乳腺癌遗传学和病因学的理解，并将欧洲后裔研究中的先前发现扩展到了亚洲女性。
