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Rheumatoid arthritis (RA) is an autoimmune disease which can lead to progressive and functional disability. Literature data suggest that some inflammatory proteins are dysregulated in RA patients and its genetic polymorphisms may contribute to the aetiology and pathogenesis of disease in different ethnic groups. Polymorphisms in IL1β, IL18, NFKB1 and IFNG genes were studied in different populations with RA, but the analysis indicated contradictory results. Thereby, we hypothesised that polymorphisms in these genes could have a combined effect on susceptibility to and severity of disease. We evaluated the +3953 C/T IL1β (rs1143634), –137 G/C IL18 (rs187238), –94 ins/del ATTG NFKB1 (rs28362491) and +874 T/A IFNG (rs2430561) polymorphisms in the northeastern Brazilian population. Peripheral blood samples were collected and DNA extraction was conducted. The polymorphisms were evaluated by RFLP and ARMS–PCR. An association was observed in rs1143634 which showed a protective effect against development of RA in carriers of the T allele (OR = 0.58; 95% CI 0.36–0.92; p =.020). In addition, we found an association among genotypes of the rs1143634 with the HAQ index (p =.021) and rs2430561 with DAS28 (p =.029) and CDAI (p =.029). In relation to combined effects of these SNPs (C/C to rs1143634, G/G to rs187238, I/I to rs28362491 and AA to rs2430561) we found a significant association with decreased functional disability (HAQ index p <.001) and ESR (p =.034), indicating a lower disease activity in carriers of these genotypes. GLM analysis confirmed these associations (HAQ (F = 5.497; p <.001) and ESR (F = 2.727; p =.032)). Our analysis indicated that in the studied population +3953 C/T IL-1β (rs1143634), –137 G/C IL-18 (rs187238), –94 ins/del ATTG NFKB1 (rs28362491) and +874 T/A IFNG (rs2430561) polymorphisms can together contribute to RA severity although they do not individually influence the disease. [ABSTRACT FROM AUTHOR]

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Rheumatoid Arthritis (RA) is a complex disease with higher level of IL-6. In order to elucidate the alterations related to IL-6 gene in RA, we evaluated the -174 G/C IL-6 gene polymorphism and methylation pattern of its promoter. A total of 120 RA patients and 120 healthy controls were recruited for polymorphism analysis, and 30 individuals of both groups were randomly selected for methylation analysis. The IL-6 gene polymorphism was analyzed by PCR-RFLP and methylation pattern was analyzed by MSPPCR. Regarding IL-6 gene polymorphism, no significant difference was found between RA patients and controls (P>0.05). For DNA, two CpG regions of IL-6 promoter gene was analyzed. The first region (-1069, -1061, -1057 and -1001 CpG) did not show significant differences, whereas the second region (-628, -610, -574 and -491 CpG) showed a significant hypermethylated status (P=0.0004) in RA patients as compared with controls.These results, suggest a possible relationship between methylation pattern and the susceptibility to RA in our studied population. [ABSTRACT FROM AUTHOR]

Abstract: The most commonly used Parkinson's disease (PD) treatment is the replacement of dopamine by its levodopa precursor ( l‐dopa). Monoamine oxidase‐B (MAO‐B) and catechol‐o‐methyl transferase (COMT) are enzymes involved in the metabolism and regulation of dopamine availability. In our study we investigated the possible relation among selected single‐nucleotide polymorphisms (SNPs) in the MAO‐B (rs1799836) and COMT (rs4680) genes and the therapeutic response to levodopa ( l‐dopa). A total of 162 Brazilian patients from the Pro‐Parkinson service of Clinics Hospital of Pernambuco diagnosed with sporadic PD and treated with levodopa were enrolled. PD patients were stratified into 2 groups according to the daily levodopa dose. MAO‐B and COMT SNP genotyping was conducted by polymerase chain reaction–restriction fragment length polymorphism. After multivariate analysis, we observed a significant difference between PD groups for the following variables: sex (P = .02), longer duration of disease (P = .02), longer levodopa therapy duration (P = .01), younger onset of PD (P = .01), and use of COMT inhibitor (P = .02). We observed that patients carrying MAO‐B (rs1799836) A and AA genotypes and COMT (rs4680) LL genotype suffered more frequently from levodopa‐induced‐dyskinesia. In addition, we found an increased risk of 2.84‐fold for male individuals carrying the MAO‐B G allele to be treated with higher doses of levodopa (P = .04). We concluded that before beginning PD pharmacological treatment, it is important to consider the genetic variants of the MAO‐B and COMT genes and the sex, reinforcing the evidence that sexual dimorphism in the genes related to dopamine metabolism might affect PD treatment. [ABSTRACT FROM AUTHOR]

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Copyright of Pesquisa Brasileira em Odontopediatria e Clinica Integrada is the property of Pesquisa Brasileira em Odontopediatria e Clinica Integrada Journal (Brazil) and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Aim: Mannose-binding lectin (MBL) is an important protein of the innate immune system. It is able to bind to sugar groups encountered on the surfaces of a wide range of microorganisms and interacts with serine proteases (MASPs) to effect the activation of complement. Mutations of the expressed human MBL2 gene have been associated with several infections; this preliminary study thus sets out to assess the association between the polymorphism in exon-1 of the MBL2 gene and periodontal disease in type 2 diabetic patients. Material and Methods: The sample comprised 50 diabetic patients, who were submitted to a clinical periodontal examination that evaluated in six sites per tooth probing depth, bleeding on probing, clinical recession, dental plaque and the number of teeth present. Periodontal disease was defined as 4+ sites of loss of attachment of 5+ mm, with one or more of those sites having a pocket of 4+ mm (Beck's criteria). The collection of scaling cells from the oral mucosa was carried out and the detection of polymorphism was made by the technique of real time PCR (RT-PCR) using the melting temperature curve analysis. Results: The data revealed that no statistically significant differences in the genotype (p=0.564) or the allele (p=0.643) frequencies were observed among the healthy individuals or those with periodontitis. Conclusions: The polymorphism in exon-1 of the MBL2 gene was not related to the periodontal disease in the sample evaluated. [ABSTRACT FROM AUTHOR]

Copyright of Acta Stomatologica Croatica is the property of Acta Stomatologica Croatica and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)