Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project
Autor: | Rosenthal, Elisabeth A, Makaryan, Vahagn, Burt, Amber A, Crosslin, David R, Kim, Daniel Seung, Smith, Joshua D, Nickerson, Deborah A, Reiner, Alex P, Rich, Stephen S, Jackson, Rebecca D, Ganesh, Santhi K, Polfus, Linda M, Qi, Lihong, Dale, David C, University of Washington, Center for Mendelian Genomics, Jarvik, Gail P |
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Rok vydání: | 2016 |
Předmět: |
Adult
Male Vacuolar Proton-Translocating ATPases Neutropenia Genotype Neutrophils Epidemiology next-generation sequence data Cardiovascular Cohort Studies Leukocyte Count Gene Frequency Clinical Research and Blood Institute (U.S.) 80 and over Genetics Humans 2.1 Biological and endogenous factors Aetiology Lung Alleles Aged University of Washington rare variant replication Prevention Human Genome High-Throughput Nucleotide Sequencing absolute neutrophil count DNA National Heart Middle Aged Atherosclerosis United States Heart Disease Good Health and Well Being Mutation Public Health and Health Services Female Missense Sequence Analysis Center for Mendelian Genomics |
Zdroj: | Genetic epidemiology, vol 40, iss 6 |
Popis: | 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. |
Databáze: | OpenAIRE |
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