{"title":"A Novel Missense Variant of <i>ZC3H12A</i> in Pulmonary Arterial Hypertension.","authors":"Ryotaro Asano, Makoto Okazawa, Tomohiko Ishibashi, Xin Ding, Keiko Ohta-Ogo, Kotaro Akaki, Saori Umeki-Mizushima, Akiko Yamagishi, Tadakatsu Inagaki, Ai Yaku, Shinya Fujisaki, Takatoyo Kiko, Kinta Hatakeyama, Osamu Takeuchi, Takeshi Ogo, Yoshikazu Nakaoka","doi":"10.1253/circrep.CR-25-0007","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Because Regnase-1, encoded by <i>ZC3H12A</i>, suppresses the development of pulmonary arterial hypertension (PAH) by controlling pro-inflammatory cytokines, we aimed to identify <i>ZC3H12A</i> variants in patients with PAH.</p><p><strong>Methods and results: </strong>We analyzed whole-genome sequence data of patients with PAH to search for disease-associated <i>ZC3H12A</i> variants. The Regnase-1 p.D426G variant was identified in 2 patients, 1 of whom presented with prominent infiltration of inflammatory cells in the lung. The protein level of the variant was decreased in vitro.</p><p><strong>Conclusions: </strong>We identified a novel missense variant of <i>ZC3H12A</i> that is directly involved in regulating inflammation in patients with PAH.</p>","PeriodicalId":94305,"journal":{"name":"Circulation reports","volume":"7 3","pages":"207-211"},"PeriodicalIF":1.1000,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11890303/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Circulation reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1253/circrep.CR-25-0007","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/3/10 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
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Abstract
Background: Because Regnase-1, encoded by ZC3H12A, suppresses the development of pulmonary arterial hypertension (PAH) by controlling pro-inflammatory cytokines, we aimed to identify ZC3H12A variants in patients with PAH.
Methods and results: We analyzed whole-genome sequence data of patients with PAH to search for disease-associated ZC3H12A variants. The Regnase-1 p.D426G variant was identified in 2 patients, 1 of whom presented with prominent infiltration of inflammatory cells in the lung. The protein level of the variant was decreased in vitro.
Conclusions: We identified a novel missense variant of ZC3H12A that is directly involved in regulating inflammation in patients with PAH.
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