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白细胞介素 1 基因多态性与喀麦隆南部昏睡病疫区人群中的非洲人类锥虫病的关联。

Association between IL1 gene polymorphism and human African trypanosomiasis in populations of sleeping sickness foci of southern Cameroon.

机构信息

Molecular Parasitology and Entomology Unit, Department of Biochemistry, Faculty of Science, University of Dschang, Dschang, Cameroon.

Centre for Genomic Research, University of Liverpool, Liverpool, United Kingdom.

出版信息

PLoS Negl Trop Dis. 2019 Mar 25;13(3):e0007283. doi: 10.1371/journal.pntd.0007283. eCollection 2019 Mar.

Abstract

BACKGROUND

Human African Trypanosomiasis (HAT) is a neglected tropical disease caused by infections due to Trypanosoma brucei subspecies. In addition to the well-established environmental and behavioural risks of becoming infected, there is evidence for a genetic component to the response to trypanosome infection. We undertook a candidate gene case-control study to investigate genetic associations further.

METHODOLOGY

We genotyped one polymorphism in each of seven genes (IL1A, IL1RN, IL4RN, IL6, HP, HPR, and HLA-G) in 73 cases and 250 controls collected from 19 ethno-linguistic subgroups stratified into three major ethno-linguistic groups, 2 pooled ethno-linguistic groups and 11 ethno-linguistic subgroups from three Cameroonian HAT foci. The seven polymorphic loci tested consisted of three SNPs, three variable numbers of tandem repeat (VNTR) and one INDEL.

RESULTS

We found that the genotype (TT) and minor allele (T) of IL1A gene as well as the genotype 1A3A of IL1RN were associated with an increased risk of getting Trypanosoma brucei gambiense and develop HAT when all data were analysed together and also when stratified by the three major ethno-linguistic groups, 2 pooled ethno-linguistic subgroups and 11 ethno-linguistic subgroups.

CONCLUSION

This study revealed that one SNP rs1800794 of IL1A and one VNTR rs2234663 of IL1RN were associated with the increased risk to be infected by Trypanosoma brucei gambiense and develop sleeping sickness in southern Cameroon. The minor allele T and the genotype TT of SNP rs1800794 in IL1A as well as the genotype 1A3A of IL1RN rs2234663 VNTR seem to increase the risk of getting Trypanosoma brucei gambiense infections and develop sleeping sickness in southern Cameroon.

摘要

背景

人类非洲锥虫病(HAT)是一种被忽视的热带病,由布氏锥虫亚种感染引起。除了已确定的感染的环境和行为风险外,还有证据表明对锥虫感染的反应存在遗传成分。我们进行了候选基因病例对照研究,以进一步研究遗传相关性。

方法

我们对来自 19 个民族语言群体的 73 例病例和 250 例对照进行了七个基因(IL1A、IL1RN、IL4RN、IL6、HP、HPR 和 HLA-G)中每个基因的一个多态性的基因分型,这些群体分为三个主要民族语言群体、两个 pooled 民族语言群体和三个喀麦隆 HAT 焦点的 11 个民族语言群体。测试的七个多态性基因座包括三个 SNP、三个可变数目的串联重复(VNTR)和一个 INDEL。

结果

我们发现,当所有数据一起分析时,以及当按三个主要民族语言群体、两个 pooled 民族语言群体和 11 个民族语言群体进行分层时,IL1A 基因的基因型(TT)和少数等位基因(T)以及 IL1RN 的基因型 1A3A 与感染布氏锥虫冈比亚亚种和发展昏睡病的风险增加有关。

结论

这项研究表明,IL1A 的一个 SNP rs1800794 和 IL1RN 的一个 VNTR rs2234663 与在喀麦隆南部感染布氏锥虫冈比亚亚种和发展昏睡病的风险增加有关。SNP rs1800794 中的少数等位基因 T 和基因型 TT 以及 IL1RN rs2234663 VNTR 的基因型 1A3A 似乎增加了在喀麦隆南部感染布氏锥虫冈比亚亚种和发展昏睡病的风险。

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