• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Genomics >Genome-wide association study of copy number variations associated with pulmonary function measures in Korea Associated Resource (KARE) cohorts.
【24h】

Genome-wide association study of copy number variations associated with pulmonary function measures in Korea Associated Resource (KARE) cohorts.

机译：韩国相关资源（KARE）队列中与肺功能测量相关的拷贝数变异的全基因组关联研究。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

Copy number variation (CNV) is an attractive emerging approach to study the association with various diseases. We performed a CNV-based genome-wide association study of pulmonary function measures (FEV(1), FVC, and FEV(1)/FVC) in KARE cohorts. Affymetrix Genome-wide Human SNP Array 5.0 was used to measure genome-wide variation and CNV segmentation was performed using Golden Helix SVS 7.0. Single and multivariate regressions were used for the association study using the R statistical package and the Dabatase for Annotation, Visualization and Integrated (DAVID v6.7b) tool for the functional annotation. We identified significantly associated 1260 CNVs with pulmonary function measures of FEV(1) and FVC. Functional gene classification and annotation analysis found 5 highly enriched clusters, the BPI/LBP/Plunc superfamily, myosin, serpin peptidase inhibitor, protein tyrosine phosphatase, and olfactory receptors. According to the functional annotation, gene-based CNVs are likely to be involved in the pathogenesis and inflammatory responsiveness of pulmonary diseases.
机译：拷贝数变异（CNV）是研究各种疾病关联的一种有吸引力的新兴方法。我们在KARE队列中进行了基于CNV的全基因组关联的肺功能测量（FEV（1），FVC和FEV（1）/ FVC）研究。使用Affymetrix全基因组人类SNP Array 5.0来测量全基因组变异，并使用Golden Helix SVS 7.0进行CNV分割。使用R统计软件包和Dabatase进行注释，可视化和集成（DAVID v6.7b）工具进行功能注释，将单变量和多元回归用于关联研究。我们确定了与FEV（1）和FVC的肺功能指标显着相关的1260个CNV。功能基因分类和注释分析发现了5个高度富集的簇，即BPI / LBP / Plunc超家族，肌球蛋白，丝氨酸蛋白酶抑制剂肽酶抑制剂，蛋白酪氨酸磷酸酶和嗅觉受体。根据功能注释，基于基因的CNV可能与肺部疾病的发病机制和炎症反应有关。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号