| Literature DB >> 27229898 |
Elisabeth A Rosenthal1, Vahagn Makaryan2, Amber A Burt1, David R Crosslin3, Daniel Seung Kim3, Joshua D Smith3, Deborah A Nickerson3, Alex P Reiner4, Stephen S Rich5, Rebecca D Jackson6, Santhi K Ganesh7,8, Linda M Polfus9, Lihong Qi10, David C Dale2, Gail P Jarvik1,3.
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.Entities:
Keywords: absolute neutrophil count; neutropenia; next-generation sequence data; rare variant replication
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Year: 2016 PMID： 27229898 PMCID： PMC5079157 DOI： 10.1002/gepi.21976
Source DB: PubMed Journal: Genet Epidemiol ISSN： 0741-0395 Impact factor: 2.135