title: The CIITA genetic polymorphism rs4774*C in combination with the HLA-DRB1*15:01 allele as a putative susceptibility factor to multiple sclerosis in Brazilian females.
abstract: The objective of this study was to investigate the association between the HLA alleles at the DQA1, DQB1 and DRB1 loci, the CIITA genetic polymorphisms -168A/G and +1614G/C, and susceptibility to multiple sclerosis (MS) in a sample from Rio de Janeiro State, Brazil. Furthermore, we wished to determine whether any of these associations might be more significant in women compared with men. DNA samples from 52 relapsing-remitting MS (RRMS) patients and 126 healthy controls matched for sex and age were analyzed. We identified a significant HLA-DRB1*15:01-MS association that was female-specific (Odds Ratio (OR) = 4.78; p = 0.001). Furthermore, we observed that the +1614G/C mutation in combination with the HLA-DRB1*15:01 allele increased susceptibility to MS in females (OR = 4.55; p = 0.01). Together, these findings highlight the polygenic nature of MS.
authors.affiliation: Departamento de Neurologia, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Eduardo R
authors.initials: ER
authors.lastname: Paradela
authors.affiliation: Departamento de Neurologia, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Soniza V
authors.initials: SV
authors.lastname: Alves-Leon
authors.affiliation: Departamento de Neurologia, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: André L S
authors.initials: AL
authors.lastname: Figueiredo
authors.affiliation: Centro de Referência em Esclerose Múltipla e outras Doenças Inflamatórias Desmielinizantes do Sistema Nervoso Central,, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Valéria C S R
authors.initials: VC
authors.lastname: Pereira
authors.affiliation: Centro de Referência em Esclerose Múltipla e outras Doenças Inflamatórias Desmielinizantes do Sistema Nervoso Central,, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Fabíola
authors.initials: F
authors.lastname: Malfetano
authors.affiliation: Centro de Referência em Esclerose Múltipla e outras Doenças Inflamatórias Desmielinizantes do Sistema Nervoso Central,, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Letícia F
authors.initials: LF
authors.lastname: Mansur
authors.affiliation: Centro de Referência em Esclerose Múltipla e outras Doenças Inflamatórias Desmielinizantes do Sistema Nervoso Central,, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Simone
authors.initials: S
authors.lastname: Scherpenhuijzen
authors.affiliation: Departamento de Neurologia, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Luciana A
authors.initials: LA
authors.lastname: Agostinho
authors.affiliation: Departamento de Neurologia, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Catielly F
authors.initials: CF
authors.lastname: Rocha
authors.affiliation: Centro de Referência em Esclerose Múltipla e outras Doenças Inflamatórias Desmielinizantes do Sistema Nervoso Central,, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Fernanda
authors.initials: F
authors.lastname: Rueda-Lopes
authors.affiliation: Centro de Referência em Esclerose Múltipla e outras Doenças Inflamatórias Desmielinizantes do Sistema Nervoso Central,, Hospital Universitário Clementino Fraga Filho, Universidade Federal do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Emerson
authors.initials: E
authors.lastname: Gasparetto
authors.affiliation: Departamento de Neurologia, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Carmen L A
authors.initials: CL
authors.lastname: Paiva
mesh_terms: D000483:Alleles; D001938:Brazil / Q000208:ethnology; D016022:Case-Control Studies; D016172:DNA Fingerprinting; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D059811:HLA-DRB1 Chains / Q000235:genetics*; D006801:Humans; D008297:Male; D009103:Multiple Sclerosis / Q000208:ethnology / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D016017:Odds Ratio; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012307:Risk Factors; D012737:Sex Factors; D015534:Trans-Activators / Q000235:genetics*
chemical_list: D059811:HLA-DRB1 Chains; C083728:MHC class II transactivator protein; D009687:Nuclear Proteins; D015534:Trans-Activators