@article {8029,
	title = {Interleukin-18, interleukin-12B and interferon-γ gene polymorphisms in Brazilian patients with rheumatoid arthritis: a pilot study.},
	journal = {Tissue Antigens},
	volume = {86},
	year = {2015},
	month = {2015 Oct},
	pages = {276-8},
	abstract = {<p>Polymorphisms in interleukin (IL)-18, IL-12 and interferon (IFN)-γ genes are associated with different levels of cytokines expression and have been associated with rheumatoid arthritis (RA). IL-18 +105 A/C, IL-12B +1188 A/C and IFN-γ +874 T/A polymorphisms were analyzed by restriction fragment length polymorphism-polymerase chain reaction (PCR) and amplification refractory mutation system PCR from 90 RA patients and 186 healthy individuals. There were significant differences to IL-18 +105 A/C polymorphism between the RA and control groups (odds ratio = 3.77; P < 0.0001). Individual carriers of the variant allele C had a 3.77-fold increased risk of for RA (P = 0.0032). No association was observed for IL-12B and IFN-γ polymorphisms. Our finds suggest a possible role for IL-18 polymorphism in the RA susceptibility in studied population.</p>},
	issn = {1399-0039},
	doi = {10.1111/tan.12645},
	author = {Angelo, H D and Gomes Silva, I I F and Oliveira, R D R and Louzada-J{\'u}nior, P and Donadi, E A and Crovella, S and Maia, M M D and de Souza, P R E and Sandrin-Garcia, P}
}
@article {1870,
	title = {Functional single-nucleotide polymorphisms in the DEFB1 gene are associated with systemic lupus erythematosus in Southern Brazilians.},
	journal = {Lupus},
	volume = {21},
	year = {2012},
	month = {2012 May},
	pages = {625-31},
	abstract = {<p>Systemic lupus erythematosus (SLE) is an autoimmune disease that results in inflammation and tissue damage. The etiology of SLE remains unknown, but recent studies have shown that the innate immune system may have a role in SLE pathogenesis through the secretion of small cationic peptides named defensins. The aim of the study was to determine the possible involvement in SLE of three functional single nucleotide polymorphisms (SNPs) (c.-52G>A, c.-44C>G and c.-20G>A) in the 5{\textquoteright}UTR region of DEFB1 gene, by analyzing them in a population of 139 SLE patients and 288 healthy controls. The c.-52G>A SNP showed significant differences in allele and genotype frequency distribution between SLE patients and controls (p = 0.01 and p = 0.02 respectively) indicating protection against SLE (A allele, OR = 0.68, AA genotype OR = 0.51). Significant differences were also observed for c.-44C>G SNP, the C/G genotype being associated with susceptibility to SLE (OR = 1.60, p = 0.04). Moreover, statistically significant differences between patients and controls were found for two DEFB1 haplotypes (GCA and GGG, p = 0.01 and p = 0.02 respectively). When considering DEFB1 SNPs and SLE clinical and laboratory manifestations, significant association was found with neuropsychiatric disorders, immunological alterations and anti-DNA antibodies. In conclusion, our results evidence a possible role for the c.-52G>A and c.-44C>G DEFB1 polymorphisms in SLE pathogenesis, that can be considered as possible risk factors for development of disease and disease-related clinical manifestations. Additional studies are needed, to corroborate these results as well as functional studies to understand the biological role of these SNPs in the pathogenesis of SLE.</p>},
	keywords = {Adolescent, Adult, Aged, beta-Defensins, Brazil, Case-Control Studies, Female, Genetic Predisposition to Disease, Genotype, Haplotypes, Humans, Lupus Erythematosus, Systemic, Male, Middle Aged, Polymorphism, Single Nucleotide, Risk Factors, Young Adult},
	issn = {1477-0962},
	doi = {10.1177/0961203312436858},
	author = {Sandrin-Garcia, P and Brand{\~a}o, L A C and Guimar{\~a}es, R L and Pancoto, J A T and Donadi, E A and Lima-Filho, J L de and Segat, L and Crovella, S}
}
