期刊
ANNALS OF THE AMERICAN THORACIC SOCIETY
卷 15, 期 -, 页码 S239-S242出版社
AMER THORACIC SOC
DOI: 10.1513/AnnalsATS.201808-530MG
关键词
chronic obstructive pulmonary disease; genetics; association analysis; integrative genomics; network medicine
资金
- National Institutes of Health [U01 HL089856, R01 HL113264, P01 HL114501, R33 HL120794, R01 HL133135, R01 HL137927]
- NATIONAL HEART, LUNG, AND BLOOD INSTITUTE [R01HL137927, U01HL089856, R33HL120794, R13HL142192, R01HL133135, P01HL114501] Funding Source: NIH RePORTER
Genome-wide association studies (GWAS) have identified more than 20 genomic regions associated with chronic obstructive pulmonary disease (COPD) susceptibility. However, the functional genetic variants within these COPD GWAS loci remain largely unidentified, thus limiting translation of these GWAS discoveries to new disease insights. Whole-exome and whole-genome sequencing studies have the potential to identify rare genetic determinants of COPD. Efforts to understand the biological effects of novel COPD genetic loci include gene-targeted murine models, integration of additional omics data (including transcriptomics and epigenetics), and functional variant identification. COPD genetic determinants likely act through biological networks, and a variety of network-based approaches have been used to gain insights into COPD susceptibility and heterogeneity.
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