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In this case-control study, 515 neonates were enrolled in the China Neonatal Genomes Project (CNGP, NCT03931707) from August 2016 to June 2021, including 196 ARDS and 319 non-ARDS matched by sex, gestational age, birth weight, perinatal asphyxia, pneumonia, sepsis, and necrotizing enterocolitis. Clinical exome sequencing was used to detect genetic variants. Collapsing analyses together with permutation tests were used to identify ARDS risk genes enriched for rare variants in ARDS samples. In silico functional interaction analysis and expression pattern studies at different stages of lung development were used to investigate the biological functions of the risk genes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Collapsing analyses identified that rare variants were significantly abundant in the genes associated with the precursor of the lamellar body and there were eight predicted risk genes with strong confidence (\n                      <jats:italic toggle=\"yes\">P<\/jats:italic>\n                      \u00a0&lt;\u00a00.01). Among them, the expression of\n                      <jats:italic toggle=\"yes\">EDNRB<\/jats:italic>\n                      increased significantly in lung development and was up-regulated in ARDS (\n                      <jats:italic toggle=\"yes\">P<\/jats:italic>\n                      \u00a0&lt;\u00a00.05). In addition, 151 predicted transcriptional target proteins of\n                      <jats:italic toggle=\"yes\">EDNRB<\/jats:italic>\n                      were highly enriched in the lamellar body responsible for pulmonary surfactant storage and secretion.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>\n                      In our study, the genes associated with pulmonary surfactant storage and release were highly enriched with rare variants. A novel neonatal ARDS risk gene\n                      <jats:italic toggle=\"yes\">EDNRB<\/jats:italic>\n                      may be a key gene for neonatal lung development and pulmonary surfactant homeostasis. Additional validation in independent patient populations and further exploration of underlying molecular mechanisms are warranted.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1016\/j.csbj.2022.08.055","type":"journal-article","created":{"date-parts":[[2022,9,1]],"date-time":"2022-09-01T02:03:37Z","timestamp":1661997817000},"page":"5047-5053","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Rare-variant collapsing analyses identified risk genes for neonatal acute respiratory distress syndrome"],"prefix":"10.34133","volume":"20","author":[{"given":"Huiyao","family":"Chen","sequence":"first","affiliation":[{"name":"Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiang","family":"Chen","sequence":"additional","affiliation":[{"name":"Departments of Neonatology, Children\u2019s Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liyuan","family":"Hu","sequence":"additional","affiliation":[{"name":"Departments of Neonatology, Children\u2019s Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang","family":"Ye","sequence":"additional","affiliation":[{"name":"Departments of Neonatology, Children\u2019s Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jiantao","family":"Zhang","sequence":"additional","affiliation":[{"name":"Departments of Neonatology, Children\u2019s Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guoqiang","family":"Cheng","sequence":"additional","affiliation":[{"name":"Departments of Neonatology, Children\u2019s Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Yang","sequence":"additional","affiliation":[{"name":"Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China"},{"name":"Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children\u2019s Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yulan","family":"Lu","sequence":"additional","affiliation":[{"name":"Center for Molecular Medicine, Children\u2019s Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinran","family":"Dong","sequence":"additional","affiliation":[{"name":"Center for Molecular Medicine, Children\u2019s Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenhao","family":"Zhou","sequence":"additional","affiliation":[{"name":"Center for Molecular Medicine of Children's Hospital of Fudan University, Institutes of Biomedical Sciences, Fudan University, Shanghai, China"},{"name":"Departments of Neonatology, Children\u2019s Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China"},{"name":"Center for Molecular Medicine, Children\u2019s Hospital of Fudan University, National Children's Medical Center, Shanghai 201102, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"221","published-online":{"date-parts":[[2022,9,15]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"crossref","first-page":"524","DOI":"10.1097\/PCC.0000000000002961","article-title":"Epidemiology of Neonatal Acute Respiratory Distress Syndrome: Prospective, Multicenter, International Cohort Study","volume":"23","author":"De Luca D.","year":"2022","unstructured":"De Luca D., Tingay D.G., van Kaam A.H., Courtney S.E., Kneyber M.C.J., Tissieres P. et al: Epidemiology of Neonatal Acute Respiratory Distress Syndrome: Prospective, Multicenter, International Cohort Study. 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