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人类基因组单体型研究在疾病遗传学分析中的意义
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作者 徐小延 孙开来 《国外医学(遗传学分册)》 2005年第6期321-324,共4页
随着人类基因组单体型图计划的顺利进行,单体型研究已经逐步应用于疾病研究的各个方面。本文将介绍单体型研究的基本特点和意义,以及目前它在一些常见复杂性疾病遗传学分析中的应用。
关键词 SNP 单体型研究 HAPMAP
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Vascular endothelial growth factor polymorphisms and risk of lung cancer
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作者 Jing Liang Xinshuang Yu Xiaolin Liu Dianshui Sun Hairong Liu Wei Hu Aizhong Qu Yan Li 《The Chinese-German Journal of Clinical Oncology》 CAS 2009年第5期269-272,共4页
Objective:We investigated the potential association between vascular endothelial growth factor(VEGF) polymorphisms and the risk of lung cancer.Methods:In the case-control study, we used PCR-RFLP technique to determine... Objective:We investigated the potential association between vascular endothelial growth factor(VEGF) polymorphisms and the risk of lung cancer.Methods:In the case-control study, we used PCR-RFLP technique to determine two VEGF genotypes-2578C/A and 936C/T in 171 lung cancer patients and 172 healthy controls for conformation, and constructed haplotypes of the two gene sites by PHASE1.0 software.Unconditional logistic regression model was used to analyze the statistical association of genontypes or haplotypes in the two groups adjusted by gender and age.Results:Compared with at least one-2578A allele, individuals with-2578CC genotype found associated with a significantly decreased risk of lung cancer P=0.001;adjusted odds ratio(OR), 0.391;95% confidence interval(95% CI), 0.226-0.686.Analyses stratified by gender showed that the combined-2578 CA and AA genotype were also associated with a significantly decreased risk of lung cancer.(P = 0.016;OR = 0.303;95% CI = 0.153-0.601 and P = 0.018;OR = 0.547;95% CI = 0.331-0.903, respectively).The distribution of the two haplotypes(936C/-2578C and 936C/-2578A) were significantly different between case-and-control groups(P = 0.016, OR = 0.317, 95% CI = 0.124-0.809 and P = 0.018, OR = 0.547, 95% CI = 0.331-0.903).Analyses categorized by tumor histology showed that Haplotype C-C was associated with a significantly decreased risk of adenocarcinoma compared with the reference haplotypes.(P = 0.004;OR = 0.237;95% CI = 0.090-0.627).Conclusion:These results suggest that the VEGF polymorphisms may be a critical factor for the risk of lung cancer. 展开更多
关键词 lung neoplasms vascular endothelial growth factor risk factor genetic polymorphism
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