华裔女教授《Nature Genetics》发癌症易感研究成果

　　

生物通报道，中国上海疾病预防与控制中心预防医学研究所联合美国范德宝大学的研究者在最新一期的Nature Genetics上发表关于乳腺癌易感性的最新研究成果，文章标题为：Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1。

 

文章通讯作者有两位，一位是来自范德宝大学的舒晓鸥（Xiao-Ou Shu）和上海疾控中心的Wei Lu（陆巍）。

 

文章用的主要技术是全基因组关联分析（Genome-wide association study）技术，针对中国女性的研究鉴定出乳腺癌的基因变异。文章分析了1505名乳腺癌患者与1522名健康者的607728个SNPs。

 

研究发现位于雌性激素受体α（ESR1）上游6q25.1的SNP rs2046210的变异与乳腺癌的几个发病阶段都具有强烈的关联。

 

这些研究结果表明，6q25.1是与乳腺癌相关联的基因座。

生物通推荐原文检索：Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1

【Abstract】

We carried out a genome-wide association study among Chinese women to identify risk variants for breast cancer. After analyzing 607,728 SNPs in 1,505 cases and 1,522 controls, we selected 29 SNPs for a fast-track replication in an independent set of 1,554 cases and 1,576 controls. We further investigated four replicated loci in a third set of samples comprising 3,472 cases and 900 controls. SNP rs2046210 at 6q25.1, located upstream of the gene encoding estrogen receptor  (ESR1), showed strong and consistent association with breast cancer across all three stages. Adjusted odds ratio (95% CI) were 1.36 (1.24–1.49) and 1.59 (1.40–1.82), respectively, for genotypes A/G and A/A versus G/G (P for trend 2.0  10-15) in the pooled analysis of samples from all three stages. We also found a similar, albeit weaker, association in an independent study comprising 1,591 cases and 1,466 controls of European ancestry (Ptrend = 0.01). These results strongly implicate 6q25.1 as a susceptibility locus for breast cancer.