{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,10]],"date-time":"2026-03-10T05:27:17Z","timestamp":1773120437977,"version":"3.50.1"},"reference-count":40,"publisher":"F1000 Research Ltd","license":[{"start":{"date-parts":[[2020,8,4]],"date-time":"2020-08-04T00:00:00Z","timestamp":1596499200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["099310\/Z\/12\/Z"],"award-info":[{"award-number":["099310\/Z\/12\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["aasopenresearch.org"],"crossmark-restriction":false},"short-container-title":["AAS Open Res"],"abstract":"<ns4:p>\n                    <ns4:bold>Background:<\/ns4:bold>\n                    Human African trypanosomiasis (HAT) is a protozoal disease transmitted by tsetse flies. Infection with trypanosomes can lead directly to active HAT or latent infection with no detectable parasites, which may progress to active HAT or to spontaneous self-cure. Genetic variation could explain these differences in the outcome of infection. To test this hypothesis, polymorphisms in 17 candidate genes were tested (\n                    <ns4:italic>APOL1<\/ns4:italic>\n                    [\n                    <ns4:italic>G1 and G2<\/ns4:italic>\n                    ],\n                    <ns4:italic>CFH, HLA-A, HPR, HP, IL1B, IL12B, IL12RB1, IL10, IL4R, MIF, TNFA<\/ns4:italic>\n                    <ns4:italic>, IL6, IL4, IL8, IFNG<\/ns4:italic>\n                    , and\n                    <ns4:italic>HLA-G<\/ns4:italic>\n                    ).\n                  <\/ns4:p>\n                  <ns4:p>\n                    <ns4:bold>Methods:<\/ns4:bold>\n                    Samples were collected in Democratic Republic of the Congo. 233 samples were genotyped: 100 active HAT cases, 33 from subjects with latent infections and 100 negative controls. Commercial service providers genotyped polymorphisms at 96 single nucleotide polymorphisms (SNPs) on 17 genes. Data were analyzed using Plink V1.9 software and R. Loci, with suggestive associations (uncorrected p &lt; 0.05) validated using an additional 594 individuals, including 164 cases and 430 controls.\n                  <\/ns4:p>\n                  <ns4:p>\n                    <ns4:bold>Results:<\/ns4:bold>\n                    After quality control, 87 SNPs remained in the analysis. Two SNPs in\n                    <ns4:italic>IL4<\/ns4:italic>\n                    and two in\n                    <ns4:italic>IFNG<\/ns4:italic>\n                    were suggestively associated (uncorrected p&lt;0.05) with a differential risk of developing a\n                    <ns4:italic>Trypanosoma brucei gambiense<\/ns4:italic>\n                    infection in the Congolese population. The\n                    <ns4:italic>IFNG<\/ns4:italic>\n                    minor allele (rs2430561, rs2069718) SNPs were protective in comparison between latent infections and controls. Carriers of the rs2243258_T and rs2243279_A alleles of\n                    <ns4:italic>IL4<\/ns4:italic>\n                    and the rs2069728_T allele of\n                    <ns4:italic>IFNG<\/ns4:italic>\n                    had a reduced risk of developing illness or latent infection, respectively. None of these associations were significant after Bonferroni correction for multiple testing. A validation study using more samples was run to determine if the absence of significant association was due to lack of power.\n                  <\/ns4:p>\n                  <ns4:p>\n                    <ns4:bold>Conclusions:<\/ns4:bold>\n                    This study showed no evidence of an association of HAT with\n                    <ns4:italic>IL4<\/ns4:italic>\n                    and\n                    <ns4:italic>IFNG<\/ns4:italic>\n                    SNPs or with\n                    <ns4:italic>APOL1 G1<\/ns4:italic>\n                    and\n                    <ns4:italic>G2<\/ns4:italic>\n                    alleles, which have been found to be protective in other studies.\n                  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status","group":{"name":"current-referee-status","label":"Current Referee Status"}},{"value":"10.21956\/aasopenres.14084.r27697, Emile Chimusa, Department of Pathology, Division of Human Genetics, University of Cape Town, Cape Town, South Africa, 18 Aug 2020, version 1, indexed","URL":"https:\/\/aasopenresearch.org\/articles\/3-35\/v1#referee-response-27697","order":0,"name":"referee-response-27697","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"10.21956\/aasopenres.14084.r27777, Charles D. Kato, School of Bio-security, Biotechnical & Laboratory Sciences, College of Veterinary Medicine, Animal Resources & Bio-security, Makarere University, Kampala, Uganda, 09 Sep 2020, version 1, indexed","URL":"https:\/\/aasopenresearch.org\/articles\/3-35\/v1#referee-response-27777","order":1,"name":"referee-response-27777","label":"Referee Report","group":{"name":"article-reports","label":"Article Reports"}},{"value":"This study was funded by the Wellcome Trust under the Human Health and Heredity in Africa Consortium (H3Africa) initiative [099310\/Z\/12\/Z]. TrypanoGEN is an initiative of the H3Africa programme of the African Academy of Science (AAS). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.","order":2,"name":"grant-information","label":"Grant Information"},{"value":"This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.","order":0,"name":"copyright-info","label":"Copyright"}]}}