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全基因组关联研究鉴定了五个与中国人群胰腺癌易感性相关的位点。

Genome-wide association study identifies five loci associated with susceptibility to pancreatic cancer in Chinese populations.

机构信息

State Key Laboratory of Molecular Oncology, Cancer Institute and Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

出版信息

Nat Genet. 2011 Dec 11;44(1):62-6. doi: 10.1038/ng.1020.

Abstract

Pancreatic cancer has the lowest survival rate among human cancers, and there are no effective markers for its screening and early diagnosis. To identify genetic susceptibility markers for this cancer, we carried out a genome-wide association study on 981 individuals with pancreatic cancer (cases) and 1,991 cancer-free controls of Chinese descent using 666,141 autosomal SNPs. Promising associations were replicated in an additional 2,603 pancreatic cancer cases and 2,877 controls recruited from 25 hospitals in 16 provinces or cities in China. We identified five new susceptibility loci at chromosomes 21q21.3, 5p13.1, 21q22.3, 22q13.32 and 10q26.11 (P = 2.24 × 10(-13) to P = 4.18 × 10(-10)) in addition to 13q22.1 previously reported in populations of European ancestry. These results advance our understanding of the development of pancreatic cancer and highlight potential targets for the prevention or treatment of this cancer.

摘要

胰腺癌是人类癌症中存活率最低的一种,目前尚无有效的筛查和早期诊断标志物。为了鉴定这种癌症的遗传易感性标志物,我们使用 666,141 个常染色体单核苷酸多态性对 981 名胰腺癌(病例)和 1,991 名无癌症的中国血统对照进行了全基因组关联研究。在来自中国 16 个省市的 25 家医院招募的另外 2,603 名胰腺癌病例和 2,877 名对照中,对有希望的关联进行了复制。我们在染色体 21q21.3、5p13.1、21q22.3、22q13.32 和 10q26.11 (P = 2.24×10(-13)至 P = 4.18×10(-10)) 处鉴定出了五个新的易感位点,除了先前在欧洲人群中报道的 13q22.1 外。这些结果增进了我们对胰腺癌发展的理解,并突出了预防或治疗这种癌症的潜在靶点。

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