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Your search keyword '"MAIA, Maria de Mascena Diniz"' showing total 4 results
Start Over Author "MAIA, Maria de Mascena Diniz" Topic genetic predisposition to disease
4 results on '"MAIA, Maria de Mascena Diniz"'

1. IL1β , IL18 , NFKB1 and IFNG gene interactions are associated with severity of rheumatoid arthritis: A pilot study.

Author

Gomes da Silva IIF, Lima CAD, Monteiro MLA, Barboza DASP, Rushansky E, Mariano MHQA, Sandrin-Garcia P, de Souza PRE, and Maia MMD

Subjects
Adult, Alleles, Amplified Fragment Length Polymorphism Analysis, Arthritis, Rheumatoid complications, Arthritis, Rheumatoid genetics, Arthritis, Rheumatoid immunology, Biomarkers analysis, Case-Control Studies, Disability Evaluation, Female, Gene Frequency, Healthy Volunteers, Humans, Interferon-gamma genetics, Interleukin-18 genetics, Interleukin-1beta genetics, Male, Middle Aged, NF-kappa B p50 Subunit genetics, Pilot Projects, Polymorphism, Restriction Fragment Length, Polymorphism, Single Nucleotide, Protective Factors, Risk Factors, Arthritis, Rheumatoid diagnosis, Genetic Predisposition to Disease, Severity of Illness Index
Abstract

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.

Published
2020
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2. CCR2 and CCR5 genes polymorphisms in women with cervical lesions from Pernambuco, Northeast Region of Brazil: a case-control study.

Author

Santos EU, Lima GD, Oliveira Mde L, Heráclio Sde A, Silva HD, Crovella S, Maia Mde M, and Souza PR

Subjects
Adolescent, Adult, Aged, Brazil epidemiology, Case-Control Studies, Female, Genotype, Humans, Middle Aged, Papillomaviridae pathogenicity, Prevalence, Squamous Intraepithelial Lesions of the Cervix genetics, Squamous Intraepithelial Lesions of the Cervix virology, Uterine Cervical Diseases virology, Young Adult, Uterine Cervical Dysplasia genetics, Uterine Cervical Dysplasia virology, Genetic Predisposition to Disease epidemiology, Papillomavirus Infections epidemiology, Polymorphism, Genetic, Receptors, CCR2 genetics, Receptors, CCR5 genetics, Uterine Cervical Diseases genetics
Abstract

Polymorphisms in chemokine receptors play an important role in the progression of cervical intraepithelial neoplasia (CIN) to cervical cancer (CC). Our study examined the association of CCR2-64I (rs1799864) andCCR5-Δ32 (rs333) polymorphisms with susceptibility to develop cervical lesion (CIN and CC) in a Brazilian population. The genotyping of 139 women with cervical lesions and 151 women without cervical lesions for the CCR2-64I and CCR5-Δ32 polymorphisms were performed using polymerase chain reaction-restriction fragment length polymorphism. The individuals carrying heterozygous or homozygous genotypes (GA+AA) for CCR2-64I polymorphisms seem to be at lower risk for cervical lesion [odds ratio (OR) = 0.37, p = 0.0008)]. The same was observed for the A allele (OR = 0.39, p = 0.0002), while no association was detected (p > 0.05) with CCR5-Δ32 polymorphism. Regarding the human papillomavirus (HPV) type, patients carrying the CCR2-64Ipolymorphism were protected against infection by HPV type 16 (OR = 0.35, p = 0.0184). In summary, our study showed a protective effect ofCCR2-64I rs1799864 polymorphism against the development of cervical lesions (CIN and CC) and in the susceptibility of HPV 16 infection.

Published
2016
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3. Influence of IL-6, IL-8, and TGF-β1 gene polymorphisms on the risk of human papillomavirus-infection in women from Pernambuco, Brazil

Author

Maria de Mascena Diniz Maia, Sergio Crovella, Sérgio Ferreira de Lima Júnior, Mayara Mansur Fernandes Tavares, Sandra de Andrade Heráclio, Ronald Moura, Paulo Roberto Eleutério de Souza, Jamilly Lopes de Macêdo, Renata Santos de Oliveira, Lima, Sérgio Ferreira de, Tavares, Mayara Mansur Fernande, Macedo, Jamilly Lopes de, Oliveira, Renata Santos de, Heráclio, Sandra de Andrade, Maia, Maria de Mascena Diniz, Souza, Paulo Roberto Eleutério de, Moura, Ronald, and Crovella, Sergio

Subjects
0301 basic medicine, lcsh:QR1-502, Uterine Cervical Neoplasms, Polymerase Chain Reaction, lcsh:Microbiology, polymorphism, 0302 clinical medicine, Gene Frequency, polymorphisms, cytokine, host genome, HPV, Genotype, Sanger sequencing, HPV infection, Articles, Middle Aged, 030220 oncology & carcinogenesis, symbols, Female, Sample collection, Brazil, Adult, Microbiology (medical), lcsh:Arctic medicine. Tropical medicine, Adolescent, lcsh:RC955-962, Biology, Polymorphism, Single Nucleotide, Virus, Transforming Growth Factor beta1, Young Adult, 03 medical and health sciences, symbols.namesake, Immune system, medicine, Humans, Genetic Predisposition to Disease, Allele, Interleukin 6, Alleles, Aged, Base Sequence, Interleukin-6, Interleukin-8, Papillomavirus Infections, Uterine Cervical Dysplasia, medicine.disease, Virology, Cross-Sectional Studies, 030104 developmental biology, DNA, Viral, biology.protein
Abstract

Human papillomavirus (HPV) infections are strongly associated with the development of cervical intraepithelial neoplasias and invasive cervical cancer. Polymorphisms in cytokine-encoding genes and behavioural cofactors could play an important role in protecting an individual against viral infections and cancer. Here, we investigated whether IL-6 -174 G>C, IL-8 +396 G>T, and TGF-β1 +869 G>C and +915 G>C polymorphisms were associated with susceptibility to HPV infection in women from north-east (Pernambuco) Brazil. We analysed 108 healthy uninfected women (HC) and 108 HPV-positive women with cervical lesions. Genetic polymorphisms were assessed using Sanger sequencing and polymerase chain reaction-restriction fragment length polymorphism. Comparison of the distribution of the genotypic and allelic frequencies of the IL-18 +396 T>G polymorphism between HPV infected woman an uninfected controls showed that the GG genotype and G allele were both more frequent in the HC group, and were associated with protection from HPV infection (p = 0.0015; OR = 0.29 CI95% = 0.13-0.61; p = 0.0005; OR = 0.45 CI95% 0.29-0.7, respectively). Individuals from the control group could have previously had HPV infection that was spontaneously eliminated; however, it was undetectable at the time of sample collection. Based on our findings, we hypothesize that the IL-8 +396 G>T polymorphism could interfere with susceptibility to HPV infection, by modulating the ability of immune system to fight the virus.

Published
2016
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4. CCR2 and CCR5 genes polymorphisms in women with cervical lesions from Pernambuco, Northeast Region of Brazil: a case-control study

Author

Erinaldo Ubirajara Damasceno dos Santos, Gessica Dayane Cordeiro de Lima, Sergio Crovella, Paulo Roberto Eleutério de Souza, Micheline de Lucena Oliveira, Maria de Mascena Diniz Maia, Hildson Dornelas Angelo da Silva, Sandra de Andrade Heráclio, dos Santos, Erinaldo Ubirajara Damasceno, de Lima, Géssica Dayane Cordeiro, Oliveira, Micheline De Lucena, Heráclio, Sandra De Andrade, da Silva, Hildson Dornelas Angelo, Crovella, Sergio, Maia, Maria de Mascena Diniz, and de Souza, Paulo Roberto Eleutério

Subjects
0301 basic medicine, Cervical cancer, Cervical intraepithelial neoplasia, Chemokine receptors, Single nucleotide polymorphism, Microbiology (medical), cervical cancer, lcsh:QR1-502, chemokine receptors, Gastroenterology, lcsh:Microbiology, Uterine Cervical Diseases, 0302 clinical medicine, single nucleotide polymorphism, Genotype, Prevalence, Medicine, Papillomaviridae, biology, virus diseases, Articles, Middle Aged, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Female, Squamous Intraepithelial Lesions of the Cervix, Brazil, Adult, medicine.medical_specialty, lcsh:Arctic medicine. Tropical medicine, Adolescent, Receptors, CCR5, lcsh:RC955-962, Chemokine receptor, Receptors, CCR2, Single-nucleotide polymorphism, cervical intraepithelial neoplasia, 03 medical and health sciences, Young Adult, Internal medicine, Humans, Genetic Predisposition to Disease, Genotyping, Cervix, Aged, Polymorphism, Genetic, business.industry, Papillomavirus Infections, medicine.disease, biology.organism_classification, Uterine Cervical Dysplasia, 030104 developmental biology, Case-Control Studies, Immunology, business
Abstract

Polymorphisms in chemokine receptors play an important role in the progression of cervical intraepithelial neoplasia (CIN) to cervical cancer (CC). Our study examined the association of CCR2-64I (rs1799864) andCCR5-Δ32 (rs333) polymorphisms with susceptibility to develop cervical lesion (CIN and CC) in a Brazilian population. The genotyping of 139 women with cervical lesions and 151 women without cervical lesions for the CCR2-64I and CCR5-Δ32 polymorphisms were performed using polymerase chain reaction-restriction fragment length polymorphism. The individuals carrying heterozygous or homozygous genotypes (GA+AA) for CCR2-64I polymorphisms seem to be at lower risk for cervical lesion [odds ratio (OR) = 0.37, p = 0.0008)]. The same was observed for the A allele (OR = 0.39, p = 0.0002), while no association was detected (p > 0.05) with CCR5-Δ32 polymorphism. Regarding the human papillomavirus (HPV) type, patients carrying the CCR2-64Ipolymorphism were protected against infection by HPV type 16 (OR = 0.35, p = 0.0184). In summary, our study showed a protective effect ofCCR2-64I rs1799864 polymorphism against the development of cervical lesions (CIN and CC) and in the susceptibility of HPV 16 infection.

Published
2016

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