A variant in the promoter of MBL2 is associated with protection against visceral leishmaniasis in Morocco

Hamdi, Salsabil; Ejghal, Rajaa; Idrissi, M. Lakhdar; Ezzikouri, Sayeh; Hida, M.; Soong, Lynn; Amarouch, Hamid; Lemrani, Meryem

doi:10.1016/j.meegid.2012.09.002

Cited by 12 publications

(14 citation statements)

References 26 publications

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“…18,19 A number of studies suggested that deficient MBL2 variants are protective to VL. 11,12,20 One study observed an association of the YY genotypes with a higher risk of developing VL 20 in contrast to our study where the XX genotypes confer higher risk to CL. Notably, there was no statistical difference for the − 221X/Y variant when patients with VL were compared with children with negative DTH − in contrast to children with a positive DTH + .…”

Section: Resultscontrasting

confidence: 96%

Functional variations in MBL2 gene are associated with cutaneous leishmaniasis in the Amazonas state of Brazil

et al. 2015

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Functional variations in the mannose-binding lectin (MBL2) gene causing low levels of serum MBL are associated with susceptibility to numerous infectious diseases. We investigated whether there is genetic association of MBL2 variant alleles with cutaneous leishmaniasis (CL) caused by Leishmania guyanensis. We used PCR-restriction fragment length polymorphism to genotype six MBL2 variants, three in the promoter region and three in the exon 1. An association was noted between the single nucleotide polymorphism -221X/Y of the MBL2 gene and CL (P=2.9 × 10(-6); odds ratio (OR)=1.9 (1.4-2.5) consistent with the hypothesis that the -221X allele confers high risk to development of CL among L. guyanensis-infected individuals. Furthermore, L. guyanensis-infected individuals bearing the codon 57 allele C had a higher risk of developing CL (P=5 × 10(-5); OR=1.9 (1.4-2.6)). The low MBL expressor haplotype LXPB was also associated to CL (P=6 × 10(-4)). This study raises the possibility that functional polymorphisms in MBL2 gene play a role in clinical outcome of Leishmania infection.

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Section: Resultscontrasting

confidence: 96%

Functional variations in MBL2 gene are associated with cutaneous leishmaniasis in the Amazonas state of Brazil

et al. 2015

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“…In our investigations, no significant associations were observed for the promoter variant -221X/Y. However, the heterozygous genotype -221XY conferred a protective role against VL in a studied Morocco population [44]. This particular study on Moroccan VL patients has analyzed -221X/Y genotypes from an asymptomatic group, and the analyzed genotypes were not in Hardy-Weinberg equilibrium therefore these results are void.…”

Section: Accepted Manuscriptcontrasting

confidence: 69%

Mannose-binding Lectin (MBL) as a susceptible host factor influencing Indian Visceral Leishmaniasis

Mishra

Antony

Gai

et al. 2015

Parasitology International

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“…Altogether, these results suggest that there is no influence of genotypes or serum MBL levels in the susceptibility to VL caused by L. chagasi in the studied population. These results differ from other studies in Brazil and other countries of Africa that report an association between polymorphism of the MBL 2 gene and leishmaniasis (Santos et al, 2001;Alonso et al, 2007;Asgharzadeh et al, 2007;Hamdi et al, 2013;Araujo et al, 2015;Mishra et al, 2015a). However, these associations are controversial, since genotypes conferring high production of MBL have already been associated with both susceptibility (Alonso et al, 2007;Asgharzadeh et al, 2007) and resistance (Araujo et al, 2015;Mishra et al, 2015a) to leishmaniasis.…”

Section: Diplotypescontrasting

confidence: 74%

“…A recent study with Indian population found no relationship between VL and variants at promoter sites −550H/L; −221X/Y, but the +4Q allele, which leads to high levels of MBL, was associated with relative protection against VL (Mishra et al, 2015a). Individuals with -221YY genotype, which leads to high levels of MBL, had a higher risk of developing VL caused by L. infantum in Moroccan population (Hamdi et al, 2013). In contrast, the -221X allele, that confers low levels of MBL, was associated to VL caused by L. guyanensis in Brazil (Araujo et al, 2015).…”

Section: Diplotypesmentioning

confidence: 93%

Research Article Polymorphisms of the mannose binding lectin (<i>MBL2</i>) gene are related to protein plasma levels but not with visceral leishmaniasis in a northeastern brazilian population

Silva¹,

Pestaña²,

Monteiro³

et al. 2019

Genet. Mol. Res.

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Mannose-binding lectin (MBL) is a lectin complement protein encoded by the MBL2 gene that has an important role in the control of infections caused by intracellular pathogens. However, there is no consensus about the effect of MBL2 polymorphism and MBL levels in leishmaniasis infections. We investigated the implications of MBL2 gene variants as well as MBL serum levels and occurrence of visceral leishmaniosis (VL) caused by Leishmania chagasi. A case-control analytic study was performed on 161 patients with VL and 161 healthy individuals in a northeast region of Brazil. The alleles of exon 1 (MBL2*A, MBL2*B, MBL2*C and MBL2*D) and promoter region (-©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 18 (2): gmr18148 E.L. Silva et al. 2 550L/H,-221Y/X and +4P/Q) were identified by automatic sequencing and the MBL serum levels were determined using an ELISA kit. MBL serum levels were similar in VL patients compared to the healthy controls. Also, allelic, genotype and haplotype frequencies of variants in exon 1 and promoter region did not significantly differ between case and control groups. Overall, our data show that MBL2 polymorphisms within the structural gene as well as the promoter region influence functional MBL serum levels but are not associated with susceptibility to L. chagasi infection in this population. We observed a lack of consensus regarding the association of MBL 2 polymorphisms with leishmaniasis worldwide, indicating that the influence of genetic variations can differ in different populations and with differences in parasite/vector relationship.

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A variant in the promoter of MBL2 is associated with protection against visceral leishmaniasis in Morocco

Cited by 12 publications

References 26 publications

Functional variations in MBL2 gene are associated with cutaneous leishmaniasis in the Amazonas state of Brazil

Functional variations in MBL2 gene are associated with cutaneous leishmaniasis in the Amazonas state of Brazil

Mannose-binding Lectin (MBL) as a susceptible host factor influencing Indian Visceral Leishmaniasis

Research Article Polymorphisms of the mannose binding lectin (<i>MBL2</i>) gene are related to protein plasma levels but not with visceral leishmaniasis in a northeastern brazilian population

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