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Genome-wide analysis of runs of homozygosity identifies new susceptibility regions of lung cancer in Han Chinese
  • 时间:0
  • 分类:Q347[生物学—遗传学] Q78[生物学—分子生物学]
  • 作者机构:[1]Department of Epidemiology and Biostatistics and Ministry of Education (MOE) Key Lab for Modern Toxicology, School of Public Health, Nanjing Medical University, Nanjing, Jiangsu 210029, China, [2]Center of Prenatal Diagnosis, Nanjing Maternal and Child Health Hospital of Nanjing Medical University, Nanjing, Jiangsu 210004, China, [3]State Key Laboratory of Reproductive Medicine, Nanjing Medical University, Nanjing, Jiangsu 210029, China, [4]Section of Clinical Epidemiology, Jiangsu Key Laboratory of Cancer Biomarkers, Prevention and Treatment, Cancer Center, Nanjing Medical University, Nanjing, Jiangsu 210029, China.
  • 相关基金:This work was supported in part the by National Natural Science Foundation of China (81230067, 81270044 and 30901233); Doctoral Fund of Ministry of Education of China (20093234110001), New Century Excellent Talents in University (NCET-10-0178), and a Project Funded by the Priority Academic Program Development of Jiangsu Higher Education Institutions.
中文摘要:

homozygosity (ROH ) 的跑是重要却糟糕学习的 genomic 变化的一个班并且可以涉及单个危险性到疾病。更好理解有肺癌症的 ROH 和它的关系,我们在一张汉中国人口执行了以前的染色体宽的盒子控制研究(1,473 个盒子和 1,962 控制) 的一个子集的染色体宽的 ROH 分析。ROH 被分类进二个类,基于长度,中介和长 ROH,到与肺癌症风险使用评估他们的协会存在染色体宽的单个核苷酸多型性(SNP ) 数据。我们发现中间的 ROH 的全面水平显著地与肺癌症的减少的风险被联系(机会比率 = 0.63;95% 信心间隔:0.51-0.77;P = 4.78 ×; 10 −6) ,当长 ROH 似乎是肺癌症的一个风险因素时。我们也在一致地在学习与肺癌症风险被联系的 14q23.1 识别了一个 ROH 区域。这些结果显示 ROH 可以是可以与肺癌症风险被联系的变化的一个新类,并且在 14q23.1 的基因变体可以涉及肺癌症的开发。

英文摘要:

Runs of homozygosity (ROHs) are a class of important but poorly studied genomic variations and may be in- volved in individual susceptibility to diseases. To better understand ROH and its relationship with lung cancer, we performed a genome-wide ROH analysis of a subset of a previous genome-wide case-control study (1,473 cases and 1,962 controls) in a Han Chinese population. ROHs were classified into two classes, based on lengths, intermedi- ate and long ROils, to evaluate their association with lung cancer risk using existing genome-wide single nucleofide polymorphism (SNP) data. We found that the overall level of intermediate ROHs was significantly associated with a decreased risk of lung cancer (odds ratio = 0.63; 95% confidence interval: 0.51-0.77; P = 4.78 × 10-6 ), while the long ROHs seemed to be a risk factor of lung cancer. We also identified one ROH region at 14q23A that was con- sistently associated with lung cancer risk in the study. These results indicated that ROHs may be a new class of variation which may be associated with lung cancer risk, and genetic variants at 14q23.1 may be involved in the development of lung cancer.

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