基于全基因组关联研究的中国人群急性白血病遗传易感性研究

Acute leukemias are hematological malignancies that have threated human health seriously. To date, two genome-wide association studies(GWAS) of Caucasian population have identified some single nucleotide polymorphisms(SNPs) which are associated with acute leukemia. To find out whether these SNPs have similar effects on acute leukemia in Chinese people, we prepare to perform a case-control study with large sample size to validate these SNPs, and for some SNPs that are not common in Chinese population(that is, minor allele frequency is less than 5%), fine mappings of the chromosome regions where these SNPs located will be taken, followed by some functional experiments to clarify the biological function of some SNPs if they achieve the level of statistical significance. Furthermore, interations of gene and some environmental factors, including benzene, ionizing radiation, pesticides and tobacco, will be analyzed, to clarify the essential association of gene and environmental factors with acute leukemia.

急性白血病是严重威胁人类健康的血液系统恶性肿瘤。目前已经发表了两项欧美人群急性白血病的全基因组关联研究(Genome-wide Association Study，GWAS)，发现了若干急性白血病的易感位点。本研究拟采用病例-对照研究设计，对欧美人群GWAS报道的急性白血病易感位点在中国人群中进行验证，对某些特殊区域（中国人群MAF<0.05的SNP所在区域）进行精细作图，并探讨其分子生物学功能，同时结合苯、电离辐射、杀虫剂以及烟草暴露等环境暴露因素的采集，分析基因-环境交互作用在急性白血病发生中的作用，从而阐述遗传因素与环境因素对急性白血病的真实危险性。

急性白血病是严重威胁人类健康的血液系统恶性肿瘤。目前已经发表了两项欧美人群急性白血病的全基因组关联研究(Genome-wide Association Study，GWAS)，发现了若干急性白血病的易感位点。本研究拟采用病例-对照研究设计，对欧美人群GWAS报道的急性白血病易感位点在中国人群中进行验证，对某些特殊区域（中国人群MAF<0.05的SNP所在区域）进行精细作图，并探讨其分子生物学功能，同时结合苯、电离辐射、杀虫剂以及烟草暴露等环境暴露因素的采集，分析基因-环境交互作用在急性白血病发生中的作用，从而阐述遗传因素与环境因素对急性白血病的真实危险性。