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01-12-2020 | Malaria | Research

Exploring association between MBL2 gene polymorphisms and the occurrence of clinical blackwater fever through a case–control study in Congolese children

Authors: Joseph M. Bodi, Célestin N. Nsibu, Roland L. Longenge, Michel N. Aloni, Pierre Z. Akilimali, Patrick K. Kayembe, Ahmeddin H. Omar, Jan Verhaegen, Pierre M. Tshibassu, Prosper T. Lukusa, Aimé Lumaka, Kenji Hirayama

Published in: Malaria Journal | Issue 1/2020

Abstract

Background

Blackwater fever (BWF), one of the most severe and life-threatening forms of falciparum malaria, is characterized by acute massive intravascular haemolysis, often leading to acute renal failure. Thus far, the genetics of the underlying susceptibility to develop BWF is not fully elucidated. Deficiency in the MBL protein, an important component of the innate immune system, has previously been suggested to be a susceptibility factor for the development of severe malaria. This study aimed to evaluate the association between MBL2 gene polymorphisms, known to affect the MBL protein level/activity, and the occurrence of BWF among Congolese children.

Methods

This is a case–control study. Cases were patients with BWF, whereas controls, matched for gender and age, had uncomplicated malaria (UM). Dried blood spot was collected for genotyping.

Results

A total of 129 children were screened, including 43 BWF and 86 UM. The common allele in BWF and UM was A, with a frequency of 76.7 and 61.0%, respectively (OR: 2.67 (0.87–829) and p = 0.079). The frequency of the C allele was 18.6 and 29.1% in BWF and UM groups, respectively, with p = 0.858. Not a single D allele was encountered. Genotype AA was at higher risk for BWF whereas genotypes A0 (AB and AC) were over-represented in UM group (OR: 0.21 (0.06–0.78)) with p = 0.019. Nine haplotypes were observed in this study: 3 high MBL expression haplotypes and 6 low MBL expression haplotype. One new haplotype HYPC was observed in this study. None of these haplotypes was significantly associated with BWF.

Conclusion

This pilot study is a preliminary research on MBL2 gene and infectious diseases in DRC. The study results show a higher risk for BWF in AA. This suggests that future studies on BWF should further investigate the contribution of a strong immune response to the occurrence of BWF.

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Title: Exploring association between MBL2 gene polymorphisms and the occurrence of clinical blackwater fever through a case–control study in Congolese children
Authors: Joseph M. Bodi
Célestin N. Nsibu
Roland L. Longenge
Michel N. Aloni
Pierre Z. Akilimali
Patrick K. Kayembe
Ahmeddin H. Omar
Jan Verhaegen
Pierre M. Tshibassu
Prosper T. Lukusa
Aimé Lumaka
Kenji Hirayama
Publication date: 01-12-2020
Publisher: BioMed Central
Keyword: Malaria
Published in: Malaria Journal / Issue 1/2020
Electronic ISSN: 1475-2875
DOI: https://doi.org/10.1186/s12936-020-3100-8

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Exploring association between MBL2 gene polymorphisms and the occurrence of clinical blackwater fever through a case–control study in Congolese children

Abstract

Background

Methods

Results

Conclusion

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Abstract

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Conclusion

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