CCL3L1 copy number and susceptibility to malaria.
CCL3L1 copy number and susceptibility to malaria.
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DOI：
10.1016/j.meegid.2012.03.021
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发表时间：
2012-07
期刊：
影响因子：
--
通讯作者：
Shaw MA
中科院分区：
文献类型：
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作者：
Carpenter D;Färnert A;Rooth I;Armour JA;Shaw MA
►我们首次模拟了CCL3L1拷贝数变异和对疟疾的易感性。►关联分析是使用以家庭为基础的方法在坦桑尼亚人群中进行的。►我们质疑疟疾是否形成了目前在CCL3L1观测到的变异谱。►我们发现CCL3L1拷贝数和血红蛋白浓度之间存在弱关联。拷贝数的变化可以导致观察到的复杂疾病易感性的变化。在此，我们首次研究了趋化因子基因CCL3L1的拷贝数变异与疟疾易感性的关系。我们提出了一项基于家庭的坦桑尼亚人群(n=10922)的遗传分析，使用寄生虫载量、疟疾临床感染的平均数量和血红蛋白水平作为表型。用平行比检验(PRT)测量CCL3L1的拷贝数，每个二倍体基因组(PDG)的拷贝数在1到10之间。评估了拷贝数和表型之间的相关性。此外，我们能够利用拷贝可变区内的微卫星识别一些家庭中的拷贝数单倍型，以进行传递不平衡测试。我们发现了高水平的拷贝数单倍型多样性，并发现了低拷贝数CCL3L1与防止贫血相关的一些证据。
► We model, for the first time, CCL3L1 copy number variation and susceptibility to malaria. ► Association analysis was performed using family-based methods in a Tanzanian population. ► We question whether malaria has shaped the current spectrum of variation observed at CCL3L1. ► We identify a weak association between CCL3L1 copy number and haemoglobin concentration. Copy number variation can contribute to the variation observed in susceptibility to complex diseases. Here we present the first study to investigate copy number variation of the chemokine gene CCL3L1 with susceptibility to malaria. We present a family-based genetic analysis of a Tanzanian population (n = 922), using parasite load, mean number of clinical infections of malaria and haemoglobin levels as phenotypes. Copy number of CCL3L1 was measured using the paralogue ratio test (PRT) and the dataset exhibited copy numbers ranging between 1 and 10 copies per diploid genome (pdg). Association between copy number and phenotypes was assessed. Furthermore, we were able to identify copy number haplotypes in some families, using microsatellites within the copy variable region, for transmission disequilibrium testing. We identified a high level of copy number haplotype diversity and find some evidence for an association of low CCL3L1 copy number with protection from anaemia.