title: Role of human leukocyte antigen, killer-cell immunoglobulin-like receptors, and cytokine gene polymorphisms in leptospirosis.
abstract: Leptospirosis is an emerging zoonotic disease caused by pathogenic species of the genus Leptospira. It has a broad range of clinical presentations in humans. Although progress has been made in the characterization of the host immune system factors that may affect disease progression and outcome, to date few reports have addressed the role of genetic polymorphisms in the susceptibility to leptospirosis. In this work a group of patients with a history of leptospiral infection and a control group were compared for polymorphisms in the human leukocyte antigen (HLA), in killer-cell immunoglobulin-like receptors (KIR), and in cytokine genes. Alleles in the HLA-A and -B loci were associated with susceptibility, as were the class I haplotype A*01-B*08-Cw*07 and the 8.1 ancestral haplotype (A*01-B*08-Cw*07-DRB1*03-DQB1*02). Single nucleotide polymorphisms in the interleukin (IL)-4 and IL-4Ralpha genes also had significantly higher frequencies in the patient group. No association was reported between KIR gene profile and leptospirosis. This work highlights the importance of using genetic polymorphisms to better understand the mechanisms involved in the immune response to leptospirosis.
authors.affiliation: Serviço Especializado de Epidemiologia e Biologia Molecular, Hospital de Santo Espírito de Angra do Heroísmo, Angra do Heroísmo, Azores, Portugal.
authors.forename: Raquel Nunes
authors.initials: RN
authors.lastname: Fialho
authors.forename: Luís
authors.initials: L
authors.lastname: Martins
authors.forename: João Paulo
authors.initials: JP
authors.lastname: Pinheiro
authors.forename: Bruno Filipe
authors.initials: BF
authors.lastname: Bettencourt
authors.forename: Ana Rita
authors.initials: AR
authors.lastname: Couto
authors.forename: Margarida Rodrigues
authors.initials: MR
authors.lastname: Santos
authors.forename: Maria José
authors.initials: MJ
authors.lastname: Peixoto
authors.forename: Francisco
authors.initials: F
authors.lastname: Garrett
authors.forename: João
authors.initials: J
authors.lastname: Leal
authors.forename: Ana Maria
authors.initials: AM
authors.lastname: Tomás
authors.forename: Jácome
authors.initials: J
authors.lastname: Bruges-Armas
mesh_terms: D000483:Alleles; D016207:Cytokines / Q000235:genetics* / Q000276:immunology; D005838:Genotype; D006680:HLA Antigens / Q000235:genetics* / Q000276:immunology; D006801:Humans; D007922:Leptospirosis / Q000235:genetics* / Q000276:immunology*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D054340:Receptors, KIR / Q000235:genetics* / Q000276:immunology
chemical_list: D016207:Cytokines; D006680:HLA Antigens; D054340:Receptors, KIR