{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,14]],"date-time":"2025-12-14T12:04:53Z","timestamp":1765713893204,"version":"3.37.3"},"reference-count":31,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,5,27]],"date-time":"2016-05-27T00:00:00Z","timestamp":1464307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000050","name":"National Heart, Lung, and Blood Institute","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000050","name":"NHLBI","doi-asserted-by":"crossref","award":["RC2 HL-103010","RC2 HL-102923","RC2 HL-102924","RC2 HL-102925","RC2 HL-102926"],"award-info":[{"award-number":["RC2 HL-103010","RC2 HL-102923","RC2 HL-102924","RC2 HL-102925","RC2 HL-102926"]}],"id":[{"id":"10.13039\/100000050","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Epidemiology"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>Neutrophils are a key component of innate immunity. Individuals with low neutrophil count are susceptible to frequent infections. Linkage and association between congenital neutropenia and a single rare missense variant in <jats:italic>TCIRG1<\/jats:italic> have been reported in a single family. Here, we report on nine rare missense variants at evolutionarily conserved sites in <jats:italic>TCIRG1<\/jats:italic> that are associated with lower absolute neutrophil count (ANC; <jats:italic>p<\/jats:italic> = 0.005) in 1,058 participants from three cohorts: Atherosclerosis Risk in Communities (ARIC), Coronary Artery Risk Development in Young Adults (CARDIA), and Jackson Heart Study (JHS) of the NHLBI Grand Opportunity Exome Sequencing Project (GO ESP). These results validate the effects of <jats:italic>TCIRG1<\/jats:italic> coding variation on ANC and suggest that this gene may be associated with a spectrum of mild to severe effects on ANC.<\/jats:p>","DOI":"10.1002\/gepi.21976","type":"journal-article","created":{"date-parts":[[2016,5,27]],"date-time":"2016-05-27T06:23:19Z","timestamp":1464330199000},"page":"470-474","source":"Crossref","is-referenced-by-count":10,"title":["Association Between Absolute Neutrophil Count and Variation at <i>TCIRG1<\/i>: The NHLBI Exome Sequencing Project"],"prefix":"10.1002","volume":"40","author":[{"given":"Elisabeth A.","family":"Rosenthal","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, School of Medicine University of Washington  Seattle Washington United States of America"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vahagn","family":"Makaryan","sequence":"additional","affiliation":[{"name":"Division of General Internal Medicine, School of Medicine University of Washington  Seattle Washington United States of America"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amber A.","family":"Burt","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, School of Medicine University of Washington  Seattle Washington United States of America"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David R.","family":"Crosslin","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences University of Washington  Seattle Washington United States of America"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel Seung","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences University of Washington  Seattle Washington United States of America"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joshua D.","family":"Smith","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences University of Washington  Seattle Washington United States of America"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deborah A.","family":"Nickerson","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences University of Washington  Seattle Washington United States of America"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex P.","family":"Reiner","sequence":"additional","affiliation":[{"name":"Department of Epidemiology, School of Public Health University of Washington  Seattle Washington United States of America"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen S.","family":"Rich","sequence":"additional","affiliation":[{"name":"Center for Public Health Genomics, School of Medicine University of Virginia  Charlottesville Virginia United States of America"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebecca D.","family":"Jackson","sequence":"additional","affiliation":[{"name":"Division of Endocrinology, Diabetes and Metabolism, Department of Internal Medicine The Ohio State University  Columbus Ohio United States of America"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Santhi K.","family":"Ganesh","sequence":"additional","affiliation":[{"name":"Department of Human Genetics University of Michigan Medical School  Ann Arbor Michigan United States of America"},{"name":"Department of Internal Medicine University of Michigan Medical School  Ann Arbor Michigan United States of America"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda M.","family":"Polfus","sequence":"additional","affiliation":[{"name":"Human Genetics Center University of Texas Health Science Center  Houston Texas United States of America"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lihong","family":"Qi","sequence":"additional","affiliation":[{"name":"Division of Biostatistics, Department of Public Health Sciences, School of Medicine University of California  Davis California United States of America"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David C.","family":"Dale","sequence":"additional","affiliation":[{"name":"Division of General Internal Medicine, School of Medicine University of Washington  Seattle Washington United States of America"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"name":"University of Washington, Center for Mendelian Genomics","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gail P.","family":"Jarvik","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, School of Medicine University of Washington  Seattle Washington United States of America"},{"name":"Department of Genome Sciences University of Washington  Seattle Washington United States of America"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,5,27]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-01-010249"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.3577405"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1103-9"},{"volume-title":"Williams Hematology, 8e","year":"2010","author":"Dale 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