title: Role of toll-interacting protein gene polymorphisms in leprosy Mexican patients.
abstract: BACKGROUND
  Leprosy is a debilitating infectious disease of human skin and nerves. Genetics factors of the host play an important role in the disease susceptibility. Toll-interacting protein (TOLLIP) is an inhibitory adaptor protein within the toll-like receptor (TLR) pathway, which recognizes structurally conserved molecular patterns of microbial pathogens, initiating immune responses. The objective of this study was to investigate the association of variants in the TOLLIP gene with susceptibility to leprosy in Mexican patients.
  
  
  METHODS
  TOLLIP polymorphisms were studied using a case-control design of Mexican patients with lepromatous leprosy (LL). The polymorphisms of TOLLIP at loci -526 C>G (rs5743854), 1309956C>T (rs3750920), 1298430C>A (rs5744015), and 1292831 G>A (rs3750919) were analyzed by PCR, with sequence-specific primers in LL patients and healthy subjects (HS) as controls.
  
  
  RESULTS
  Genotype distributions were in Hardy Weinberg equilibrium for all sites except for rs3750920. Neither genotype nor allele frequencies were statistically different between LL patients and controls (P > 0.05). The maximum pairwise D' coefficient reached was 0.44 of linkage (P = 0.01) for all the polymorphisms except for rs5743854. The three loci haplotype comparison yielded no significant differences between groups.
  
  
  CONCLUSIONS
  Just the individuals with genotype C/C of rs3750920 have a trend of protective effect to developing LL.
authors.affiliation: Centro Universitario de Tonalá, Universidad de Guadalajara, Tonalá, Jal., Mexico ; Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Jal., Mexico.
authors.forename: Margarita
authors.initials: M
authors.lastname: Montoya-Buelna
authors.forename: Mary
authors.initials: M
authors.lastname: Fafutis-Morris
authors.forename: Alvaro J
authors.initials: AJ
authors.lastname: Tovar-Cuevas
authors.forename: Anabell
authors.initials: A
authors.lastname: Alvarado-Navarro
authors.forename: Yeminia
authors.initials: Y
authors.lastname: Valle
authors.forename: Jorge R
authors.initials: JR
authors.lastname: Padilla-Gutierrez
authors.forename: Jose F
authors.initials: JF
authors.lastname: Muñoz-Valle
authors.forename: Luis E
authors.initials: LE
authors.lastname: Figuera-Villanueva
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007918:Leprosy / Q000235:genetics* / Q000473:pathology; D015810:Linkage Disequilibrium; D008297:Male; D008800:Mexico; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D051193:Toll-Like Receptors / Q000235:genetics
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C410602:TOLLIP protein, human; D051193:Toll-Like Receptors