Genetic variants at 5p12 and risk of breast cancer in Han Chinese
Genetic variants at 5p12 and risk of breast cancer in Han Chinese
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5p12 基因变异与汉族乳腺癌风险
DOI：
10.1038/jhg.2012.83
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发表时间：
2012-10-01
影响因子：
3.5
通讯作者：
Wang, Shui
中科院分区：
文献类型：
--
作者：
Liu, Xiao'an;Qin, Zhenzhen;Wang, Shui
一项在欧洲血统女性中进行的全基因组关联研究发现，染色体5p12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，这表明该区域的遗传变异可能在乳腺癌的发生中起作用。为探讨5p12位点SNP与中国人群乳腺癌发病风险的关系，我们采用单倍型标记SNP方法对5p12位点进行了精细定位，并对这些SNP进行了基因分型。我们发现，在欧洲人群中报告的两个风险SNPs与我们中国人群中的乳腺癌风险无关，在控制多重比较后，精细定位的SNPs也没有相关性。
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.