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IGF2R基因多态性与结直肠癌和肝癌遗传易感性的相关性研究
朱忠政1,2*,丛文铭2,HouLi-fang3,王爱忠1,何向蕾4,朱冠山5
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(1.解放军第113医院病理科,宁波 315040;2.第二军医大学东方肝胆外科医院病理科,上海 200438;3.Department of Preventive Medicine, Feinberg School of Medicine,Northwestern University,Chicago,IL 60611,USA;4.宁波市李惠利医院病理科,宁波 315041;5.阿斯利康中国创新中心,上海 201203)
摘要:
目的:探讨IGF2R基因第2020密码子多态(Asn2020Ser)与结直肠癌(CRC)和肝细胞癌(HCC)遗传易感性的关系。方法:采用TaqMan方法检测345例CRC与670名对照以及469例HCC与558名对照的IGF2R Asn2020Ser基因型分布及差异。结果:IGF2R Asn2020Ser基因型分布在CRC-对照和HCC-对照人群间均有显著性差异(P<0.05)。与Asn/Asn基因型相比,Asn/Ser、Ser/Ser和Ser携带者(Asn/Ser和Ser/Ser基因型)的CRC风险分别显著降至0.71倍(95% CI=0.54~0.94,P=0.017)、0.64倍(95% CI=0.42~0.97,P=0.036)和0.69倍(95% CI=0.53~0.90,P=0.008)。类似的,Asn/Ser、Ser/Ser和Ser携带者的HCC风险分别降至0.68倍(95% CI=0.52~0.89,P=0.005)、0.78倍(95% CI=0.52~1.16,P=0.212)和0.70倍(95% CI=0.54~0.90,P=0.006)。结论:IGF2R 2020Ser携带可能对中国人群罹患CRC和HCC具有保护作用。
关键词:  结直肠肿瘤  肝肿瘤  IGF2R基因  单核苷酸多态性  疾病遗传易感性
DOI:10.3724/SP.J.1008.2008.01289
投稿时间:2008-04-25修订日期:2008-07-29
基金项目:国家自然科学基金(30470791); 南京军区医学科学技术研究“十一五”计划资助课题(06MA27).
Correlation between IGF2R polymorphism and genetic susceptibility to colorectal cancer and hepatocellular carcinoma
ZHU Zhong-zheng1,2*,CONG Wen-ming2,HOU Li-fang3,WANG Ai-zhong1,HE Xiang-lei4,ZHU Guan-shan5
(1. Department of Pathology,No.113 Hospital of PLA,Ningbo 315040,China;2. Department of Pathology,Eastern Hepatobiliary Hospital,Second Military Medical University,Shanghai 200438;3. Department of Preventive Medicine,Feinberg School of Medicine,Northwestern University,Chicago,IL 60611,USA;4. Department of Pathology,Lihuili Hospital,Ningbo 315041;5. Innovation Center China,AstraZeneca Global R&D,Shanghai 201203)
Abstract:
Objective:To investigate the possible association between codon 2020 polymorphism(Asn2020Ser) of IGF2R gene and the susceptibility to colorectal cancer(CRC) and hepatocellular carcinoma(HCC) in Chinese population. Methods: The IGF2R Asn2020Ser genotypes were determined by TaqMan assay in 345 CRC cases and 670 controls,and in 469 HCC cases and 558 controls. Odds ratios(OR) for cancer and 95% confidence intervals(CI) from unconditional logistic regression models were used to evaluate relative risks. Potential risk factors were included in the logistic regression models as covariates in the multivariate analyses on genotype and cancer risk. Results: The Ser allele of the IGF2R Asn2020Ser polymorphism was significantly associated with decreased risks of CRC and HCC. As compared with Asn/Asn genotype,Asn/Ser,Ser/Ser and Ser-allele carriers(Asn/Ser or Ser/Ser genotype) had significantly decreased risks of CRC,with the decrease being 0.71-fold (95% CI=0.54-0.94,P=0.017),0.64-fold(95% CI=0.42-0.97,P=0.036) and 0.69-fold(95% CI=0.53-0.90,P=0.008),respectively. A similar decreased HCC risk was also shown,with the decrease being 0.68-fold(95% CI=0.52-0.89,P=0.005) for Asn/Ser genotype,0.78-fold(95% CI=0.52-1.16,P=0.212) for Ser/Ser genotype,and 0.70-fold(95% CI=0.54-0.90,P=0.006) for Ser-allele carriers,when compared with Asn/Asn genotype. Conclusion: The Ser allele of the IGF2R Asn2020Ser polymorphism is potentially one of the protective factors against CRC and HCC in Chinese population.
Key words:  colorectal neoplasms  liver neoplasms  IGF2R gene  single nucleotide polymorphism  genetic predisposition to disease