title: Functional variations in MBL2 gene are associated with cutaneous leishmaniasis in the Amazonas state of Brazil.
abstract: 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.
authors.affiliation: Faculdade de Medicina, Universidade Nilton Lins, Av. Prof Nilton Lins, Manaus, Brazil.
authors.forename: F J
authors.initials: FJ
authors.lastname: de Araujo
authors.affiliation: Fundação de Medicina Tropical Dr Heitor Vieira Dourado, Manaus, Brazil.
authors.forename: T G
authors.initials: TG
authors.lastname: Mesquita
authors.affiliation: Faculdade de Medicina, Universidade Nilton Lins, Av. Prof Nilton Lins, Manaus, Brazil.
authors.forename: L D O
authors.initials: LD
authors.lastname: da Silva
authors.affiliation: Faculdade de Medicina, Universidade Nilton Lins, Av. Prof Nilton Lins, Manaus, Brazil.
authors.forename: S A
authors.initials: SA
authors.lastname: de Almeida
authors.affiliation: Faculdade de Medicina, Universidade Nilton Lins, Av. Prof Nilton Lins, Manaus, Brazil.
authors.forename: W
authors.initials: W
authors.lastname: de S Vital
authors.affiliation: Fundação de Medicina Tropical Dr Heitor Vieira Dourado, Manaus, Brazil.
authors.forename: A
authors.initials: A
authors.lastname: Chrusciak-Talhari
authors.affiliation: Fundação de Medicina Tropical Dr Heitor Vieira Dourado, Manaus, Brazil.
authors.forename: J A
authors.initials: JA
authors.lastname: de O Guerra
authors.affiliation: Faculdade de Medicina, Universidade Nilton Lins, Av. Prof Nilton Lins, Manaus, Brazil.
authors.forename: S
authors.initials: S
authors.lastname: Talhari
authors.affiliation: 1] Faculdade de Medicina, Universidade Nilton Lins, Av. Prof Nilton Lins, Manaus, Brazil [2] Fundação de Medicina Tropical Dr Heitor Vieira Dourado, Manaus, Brazil.
authors.forename: R
authors.initials: R
authors.lastname: Ramasawmy
mesh_terms: D000328:Adult; D001938:Brazil; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D018334:Leishmania guyanensis / Q000472:pathogenicity; D016773:Leishmaniasis, Cutaneous / Q000235:genetics* / Q000469:parasitology; D015810:Linkage Disequilibrium; D008297:Male; D037601:Mannose-Binding Lectin / Q000235:genetics*; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide
chemical_list: C445619:MBL2 protein, human; D037601:Mannose-Binding Lectin