title: Polymorphism analysis of the CTLA-4 gene in paracoccidioidomycosis patients.
abstract: The CTLA-4 protein is expressed in activated T cells and plays an essential role in the immune response through its regulatory effect on T cell activation. Polymorphisms of the CTLA-4 gene have been correlated with autoimmune, neoplastic and infectious illnesses. This work aimed to verify possible associations between single nucleotide polymorphisms (SNPs) in CTLA-4, -318C/T in the promoter and +49A/G in exon 1 and paracoccidioidomycosis (PCM) caused by Paracoccidioides brasiliensis. For this purpose, 66 chronic form PCM patients and 76 healthy controls had their allele, genotype and haplotype frequencies determined. The genetic admixture structure of the patients and controls was evaluated to eliminate ancestral bias. The comparison of frequencies indicated no significant differences between patients and controls that could link the SNPs to PCM. Groups were admixture matched with no difference observed in population ancestry inference, indicating that the absence of association between CTLA-4 polymorphisms and PCM could not be attributed to ancestral bias. This study showed that there was no association between the CTLA-4 SNPs -318 and +49 and the resistance or susceptibility to PCM.
authors.affiliation: Faculdade de Medicina, Universidade Católica de Brasília.
authors.forename: Viviane F
authors.initials: VF
authors.lastname: Lozano
authors.forename: Tulio C
authors.initials: TC
authors.lastname: Lins
authors.forename: Marcus M
authors.initials: MM
authors.lastname: Teixeira
authors.forename: Rodrigo G
authors.initials: RG
authors.lastname: Vieira
authors.forename: Maria Heloisa Sl
authors.initials: MH
authors.lastname: Blotta
authors.forename: Alfredo M
authors.initials: AM
authors.lastname: Goes
authors.forename: Izabel Cristina R
authors.initials: IC
authors.lastname: Silva
authors.forename: Rinaldo W
authors.initials: RW
authors.lastname: Pereira
authors.forename: Anamelia L
authors.initials: AL
authors.lastname: Bocca
authors.forename: Maria Sueli S
authors.initials: MS
authors.lastname: Felipe
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015703:Antigens, CD / Q000235:genetics*; D060908:CTLA-4 Antigen; D016022:Case-Control Studies; D002908:Chronic Disease; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D010229:Paracoccidioidomycosis / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D055815:Young Adult
chemical_list: D015703:Antigens, CD; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human