Toll-like receptor 1 N248S single-nucleotide polymorphism is associated with leprosy risk and regulates immune activation during mycobacterial infection.

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TitleToll-like receptor 1 N248S single-nucleotide polymorphism is associated with leprosy risk and regulates immune activation during mycobacterial infection.
Publication TypeJournal Article
Authorsde Marques CS, Brito-de-Souza VN, Guerreiro LTA, Martins JH, Amaral EP, Cardoso CC, Dias-Batista IMF, da Silva WL, Nery JAC, Medeiros P, Gigliotti P, Campanelli AP, Virmond M, Sarno EN, Mira MT, Lana FCF, Caffarena ER, Pacheco AG, Pereira AC, Moraes MO
Abbrev. JournalJ. Infect. Dis.
JournalThe Journal of infectious diseases
Year of Publication2013
Volume208
Issue1
Pagination120-9
Publication Languageeng
KeywordsAdult, Case-Control Studies, Enzyme-Linked Immunosorbent Assay, Female, Flow Cytometry, Gene Frequency, Genotype, Haplotypes, Heterozygote, Humans, Immunity, Leprosy, Leukocytes, Mononuclear, Middle Aged, Mycobacterium leprae, Polymorphism, Single Nucleotide, Risk Factors, Toll-Like Receptor 1
Abstract

Conflicting findings about the association between leprosy and TLR1 variants N248S and I602S have been reported. Here, we performed case-control and family based studies, followed by replication in 2 case-control populations from Brazil, involving 3162 individuals. Results indicated an association between TLR1 248S and leprosy in the case-control study (SS genotype odds ratio [OR], 1.81; P = .004) and the family based study (z = 2.02; P = .05). This association was consistently replicated in other populations (combined OR, 1.51; P

PubMed URL

http://www.ncbi.nlm.nih.gov/pubmed/23547143?dopt=Abstract

DOI10.1093/infdis/jit133
Shelf markSALESMARQUEZ213

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