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However, the functional regulatory mechanisms at these loci have not been identified. We performed the largest GWAS of emphysema patterns to date, identifying 10 GWAS loci including an association peak spanning a 200 kb region downstream from\n                    <jats:italic>TGFB2<\/jats:italic>\n                    . Integrative analysis of publicly available eQTL, DNaseI, and chromatin conformation data identified a putative functional variant, rs1690789, that may regulate\n                    <jats:italic>TGFB2<\/jats:italic>\n                    expression in human fibroblasts. Using chromatin conformation capture, we confirmed that the region containing rs1690789 contacts the\n                    <jats:italic>TGFB2<\/jats:italic>\n                    promoter in fibroblasts, and CRISPR\/Cas-9 targeted deletion of a ~ 100 bp region containing rs1690789 resulted in decreased\n                    <jats:italic>TGFB2<\/jats:italic>\n                    expression in primary human lung fibroblasts. These data provide novel mechanistic evidence linking genetic variation affecting the TGF-\u03b2 pathway to emphysema in humans.\n                  <\/jats:p>","DOI":"10.7554\/elife.42720","type":"journal-article","created":{"date-parts":[[2019,7,25]],"date-time":"2019-07-25T08:01:58Z","timestamp":1564041718000},"update-policy":"https:\/\/doi.org\/10.7554\/elife.42720","source":"Crossref","is-referenced-by-count":26,"title":["Identification of an emphysema-associated genetic variant near TGFB2 with regulatory effects in lung fibroblasts"],"prefix":"10.7554","volume":"8","author":[{"given":"Margaret M","family":"Parker","sequence":"first","affiliation":[{"name":"Channing Division of Network Medicine, Brigham and Women\u2019s Hospital, Boston, United States"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Hao","sequence":"additional","affiliation":[{"name":"Channing Division of Network Medicine, Brigham and Women\u2019s Hospital, Boston, United 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