Department of General Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.
J Hum Genet. 2012 Oct;57(10):638-41. doi: 10.1038/jhg.2012.83. Epub 2012 Jul 26.
A genome-wide association study, conducted among women of European ancestry, has identified two single-nucleotide polymorphisms (SNPs) rs4415084 (T>C) and rs10941679 (A>G) at chromosome 5p12 were associated with risk of breast cancer, suggesting that genetic variants in this region may have a role in the development of breast cancer. To investigate the associations between SNPs at 5p12 and risk of breast cancer in the Chinese population, we conducted a fine-mapping in 5p12 using a haplotype-tagging SNP approach and genotyped these SNPs with a case-control study consisting of 878 cases and 900 controls. We found that the two risk SNPs reported in the European population were neither associated with breast cancer risk in our Chinese population, nor did the fine-mapping SNPs after controlling multiple comparison.
一项全基因组关联研究在欧洲裔女性中进行,鉴定出位于 5p12 染色体上的两个单核苷酸多态性(SNP)rs4415084(T>C)和 rs10941679(A>G)与乳腺癌风险相关,提示该区域的遗传变异可能在乳腺癌的发展中起作用。为了研究 5p12 上的 SNPs 与中国人群乳腺癌风险之间的关联,我们使用单倍型标记 SNP 方法对 5p12 进行了精细定位,并使用包含 878 例病例和 900 例对照的病例对照研究对这些 SNP 进行了基因分型。我们发现,在欧洲人群中报道的两个风险 SNP 既与中国人群的乳腺癌风险无关,也与多比较控制后的精细定位 SNP 无关。