title: Influence of Genetic Ancestry on INDEL Markers of NFKβ1, CASP8, PAR1, IL4 and CYP19A1 Genes in Leprosy Patients.
abstract: BACKGROUND
  Leprosy is an insidious infectious disease caused by the obligate intracellular bacteria Mycobacterium leprae, and host genetic factors can modulate the immune response and generate distinct categories of leprosy susceptibility that are also influenced by genetic ancestry.
  
  
  RESULTS
  We investigated the possible effects of CYP19A1 [rs11575899], NFKβ1 [rs28362491], IL1α [rs3783553], CASP8 [rs3834129], UGT1A1 [rs8175347], PAR1 [rs11267092], CYP2E1 [INDEL 96pb] and IL4 [rs79071878] genes in a group of 141 leprosy patients and 180 healthy individuals. The INDELs were typed by PCR Multiplex in ABI PRISM 3130 and analyzed with GeneMapper ID v3.2. The NFKβ1, CASP8, PAR1 and IL4 INDELs were associated with leprosy susceptibility, while NFKβ1, CASP8, PAR1 and CYP19A1 were associated with the MB (Multibacilary) clinical form of leprosy.
  
  
  CONCLUSIONS
  NFKβ1 [rs28362491], CASP8 [rs3834129], PAR1 [rs11267092] and IL4 [rs79071878] genes are potential markers for susceptibility to leprosy development, while the INDELs in NFKβ1, CASP8, PAR1 and CYP19A1 (rs11575899) are potential markers for the severe clinical form MB. Moreover, all of these markers are influenced by genetic ancestry, and European contribution increases the risk to leprosy development, in other hand an increase in African contribution generates protection against leprosy.
authors.affiliation: Laboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Pará, Brasil; Núcleo de Pesquisas em Oncologia - NPO, Universidade Federal do Pará, Belém, Pará, Brasil.
authors.forename: Pablo
authors.initials: P
authors.lastname: Pinto
authors.affiliation: Laboratório de Dermatoimunologia, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Pará, Brasil.
authors.forename: Claudio
authors.initials: C
authors.lastname: Salgado
authors.affiliation: Núcleo de Pesquisas em Oncologia - NPO, Universidade Federal do Pará, Belém, Pará, Brasil.
authors.forename: Ney Pereira Carneiro
authors.initials: NP
authors.lastname: Santos
authors.affiliation: Laboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Pará, Brasil; Núcleo de Pesquisas em Oncologia - NPO, Universidade Federal do Pará, Belém, Pará, Brasil.
authors.forename: Sidney
authors.initials: S
authors.lastname: Santos
authors.affiliation: Laboratório de Genética Humana e Médica, Instituto de Ciências Biológicas, Universidade Federal do Pará, Belém, Pará, Brasil; Núcleo de Pesquisas em Oncologia - NPO, Universidade Federal do Pará, Belém, Pará, Brasil.
authors.forename: Ândrea
authors.initials: Â
authors.lastname: Ribeiro-dos-Santos
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D056726:Genetic Association Studies; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006801:Humans; D054643:INDEL Mutation; D055261:Immunogenetic Phenomena; D007918:Leprosy / Q000235:genetics* / Q000276:immunology*; D008297:Male; D008875:Middle Aged; D009166:Mycobacterium leprae / Q000276:immunology*; D044469:Racial Groups; D055815:Young Adult
chemical_list: D005819:Genetic Markers