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Genet Epidemiol. 2016 Sep;40(6):470-4. doi: 10.1002/gepi.21976. Epub 2016 May 27.

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

Author information

  • 1Division of Medical Genetics, School of Medicine, University of Washington, Seattle, Washington, United States of America.
  • 2Division of General Internal Medicine, School of Medicine, University of Washington, Seattle, Washington, United States of America.
  • 3Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America.
  • 4Department of Epidemiology, School of Public Health, University of Washington, Seattle, Washington, United States of America.
  • 5Center for Public Health Genomics, School of Medicine, University of Virginia, Charlottesville, Virginia, United States of America.
  • 6Division of Endocrinology, Diabetes and Metabolism, Department of Internal Medicine, The Ohio State University, Columbus, Ohio, United States of America.
  • 7Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, United States of America.
  • 8Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, United States of America.
  • 9Human Genetics Center, University of Texas Health Science Center, Houston, Texas, United States of America.
  • 10Division of Biostatistics, Department of Public Health Sciences, School of Medicine, University of California, Davis, California, United States of America.

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.

KEYWORDS:

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

PMID:
27229898
PMCID:
PMC5079157
[Available on 2017-09-01]
DOI:
10.1002/gepi.21976
[PubMed - in process]
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