中性粒细胞绝对计数与TCIRG1基因变异之间的关联：美国国立心肺血液研究所外显子测序项目
Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project.
作者信息
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, Jarvik Gail P
机构信息
Division of Medical Genetics, School of Medicine, University of Washington, Seattle, Washington, United States of America.
Division of General Internal Medicine, School of Medicine, University of Washington, Seattle, Washington, United States of America.
出版信息
Genet Epidemiol. 2016 Sep;40(6):470-4. doi: 10.1002/gepi.21976. Epub 2016 May 27.
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.
中性粒细胞是先天免疫的关键组成部分。中性粒细胞计数低的个体易频繁感染。在一个家族中，已报道先天性中性粒细胞减少症与TCIRG1中的一个罕见错义变异之间存在连锁和关联。在此，我们报告了来自三个队列（美国国立卫生研究院心肺血液研究所大机会外显子测序项目（GO ESP）的社区动脉粥样硬化风险研究（ARIC）、青年成人冠状动脉风险发展研究（CARDIA）和杰克逊心脏研究（JHS））的1058名参与者中，TCIRG1进化保守位点的九个罕见错义变异与较低的绝对中性粒细胞计数（ANC；p = 0.005）相关。这些结果验证了TCIRG1编码变异对ANC的影响，并表明该基因可能与对ANC的一系列轻度至重度影响相关。
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