染色体 6q13 拷贝数多态与 胰腺癌发病相关

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染色体 6q13 拷贝数多态与 胰腺癌发病相关. 报告人:黄理明 导 师:林东昕 教授. 中国医学科学院肿瘤研究所. 胰腺癌临床及流行病学特点. 临床特点: 1 、病程短,进展快, 预后差 ; 2 、目前最有效的治疗方法就是 早期 根治性切除; 3 、起病 隐匿 ,根治性切除率仅 20% 。. 流行病学特点: 1 、发病水平与社会 经济 状况 有一定关系; 2 、我国胰腺癌的发病率和死 亡率均 呈上升趋势 。. - PowerPoint PPT Presentation

Transcript of 染色体 6q13 拷贝数多态与 胰腺癌发病相关

  • 6q13

  • 1 2 320% 1 2 Wang L, et al. 2005

  • 309 964 GSTT1 52 235 UGT1A7 365 379 NAT1 309 964 XRCC1 GWAS 3851 3934 ABO 163 337 MTHFR/TS 397 907 FasL/CASP8 393 786 COX2

  • copy number variation, CNV >1kb DNA > SNP copy number polymorphism, CNP >1%

  • SNP

  • * Two-sided 2 test.

  • 6q13*Data were calculated by logistic regression, adjusted for sex, age and smoking status.

    Copy number Patients (n=420)Controls (n=817)OR* (95% CI)PNo. (%)No. (%)2 copies 144 (34.28) 364 (44.55)1.00 (reference)1 copy 233 (55.48) 362 (44.31)1.75 (1.332.31)7.5610-5 0 copy 43 (10.24) 91 (11.14)1.07 (0.681.69)0.780 or 1 copy 276 (65.72) 453 (55.45) 1.61 (1.242.11) 4.4110-4

  • CNVchr6:74649185-74658419

    9235bp

  • Feuk L, et al. 2006

  • P
  • 6q13

    chr6:74,648,791-74,659,169

  • 1. Wang L, et al. The changing pancreatic cancer mortality in China (1991-2000). Chin J Intern Med, 2005, 44(7):509-513.2. Lochan R, et al. Genetic susceptibility in pancreatic ductal adenocarcinoma. Br J Surg, 2008, 95(1):22-32. 3. Wang L, et al. Genetic polymorphisms in methylenetetrahydrofolate reductase and thymidylate synthase and risk of pancreatic cancer. Clin Gastroenterol Hepatol, 2005, 3(8):743-751. 4. Xu DK, et al. Association between single nucleotide polymorphisms in the promoter of cyclooxygenase COX-2 gene and hereditary susceptibility to pancreatic cancer. Zhonghua Yi Xue Za Zhi, 2008, 88(28):1961-1965. 5. Yang M, et al. Functional variants in cell death pathway genes and risk of pancreatic cancer. Clin Cancer Res, 2008, 14(10):3230-3236.6. Freeman JL, et al. Copy number variation: new insights in genome diversity. Genome Res, 2006, 16(8):949-961. 7. Feuk L, et al. Structural variation in the human genome. Nat Rev Genet, 2006, 7(2):85-97. 8. McCarroll SA, et al. Copy-number variation and association studies of human disease. Nat Genet, 2007, 39(7 Suppl):S37-42.