Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project.

TitleAssociation Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project.
Publication TypeJournal Article
Year of Publication2016
AuthorsRosenthal, EA, Makaryan, V, Burt, AA, Crosslin, DR, Kim, DSeung, Smith, JD, Nickerson, DA, Reiner, AP, Rich, SS, Jackson, RD, Ganesh, SK, Polfus, LM, Qi, L, Dale, DC, Jarvik, GP
Corporate AuthorsUniversity of Washington, Center for Mendelian Genomics
JournalGenet Epidemiol
Volume40
Issue6
Pagination470-4
Date Published2016 Sep
ISSN1098-2272
Abstract

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 TCIRG1 have been reported in a single family. Here, we report on nine rare missense variants at evolutionarily conserved sites in TCIRG1 that are associated with lower absolute neutrophil count (ANC; p = 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 TCIRG1 coding variation on ANC and suggest that this gene may be associated with a spectrum of mild to severe effects on ANC.

DOI10.1002/gepi.21976
Alternate JournalGenet. Epidemiol.
PubMed ID27229898
PubMed Central IDPMC5079157
Grant ListRC2 HL102923 / HL / NHLBI NIH HHS / United States
R24 AI049393 / AI / NIAID NIH HHS / United States
RC2 HL102926 / HL / NHLBI NIH HHS / United States
U01 HG008657 / HG / NHGRI NIH HHS / United States
RC2 HL102924 / HL / NHLBI NIH HHS / United States
UM1 HG006493 / HG / NHGRI NIH HHS / United States
RC2 HL103010 / HL / NHLBI NIH HHS / United States
RC2 HL102925 / HL / NHLBI NIH HHS / United States