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

University of Washington, Center for Mendelian Genomics

Research output: Contribution to journalArticle

5 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)470-474
Number of pages5
JournalGenetic Epidemiology
Volume40
Issue number6
DOIs
StatePublished - Sep 1 2016

Fingerprint

Exome
National Heart, Lung, and Blood Institute (U.S.)
Neutrophils
Innate Immunity
Young Adult
Atherosclerosis
Coronary Vessels
Infection
Genes

Keywords

  • absolute neutrophil count
  • neutropenia
  • next-generation sequence data
  • rare variant replication

ASJC Scopus subject areas

  • Epidemiology
  • Medicine(all)
  • Genetics(clinical)

Cite this

Association Between Absolute Neutrophil Count and Variation at TCIRG1 : The NHLBI Exome Sequencing Project. / University of Washington, Center for Mendelian Genomics.

In: Genetic Epidemiology, Vol. 40, No. 6, 01.09.2016, p. 470-474.

Research output: Contribution to journalArticle

University of Washington, Center for Mendelian Genomics. / Association Between Absolute Neutrophil Count and Variation at TCIRG1 : The NHLBI Exome Sequencing Project. In: Genetic Epidemiology. 2016 ; Vol. 40, No. 6. pp. 470-474.
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