ABSTRACT Objective: To study associations between polymorphisms in the angiotensin converting enzyme (ACE I/D), actinin 3 (ACTN3 R577X) and paraoxonase 1 (PON1 T(-107)C) genes and chronic diseases (diabetes and hypertension) in women. Materials and methods: Genomic DNA was extracted from saliva samples of 78 women between 18 and 59 years old used for genetic polymorphism screening. Biochemical data were collected from the medical records in Basic Health Units from Southern Brazil. Questionnaires about food consumption, physical activity level and socioeconomic status were applied. Results: The XX genotype of ACTN3 was associated with low HDL levels and high triglycerides, total cholesterol and glucose levels. Additionally, high triglycerides and LDL levels were observed in carriers of the TT genotype of PON1, and lower total cholesterol levels were associated to the CC genotype. As expected, women with diabetes/hypertense had increased body weight, BMI (p = 0.02), waist circumference (p = 0.01), body fat percentage, blood pressure (p = 0.02), cholesterol, triglycerides (p = 0.02), and blood glucose (p = 0.01), when compared to the control group. Conclusion: Both ACTN3 R577X and PON1 T(-107)C polymorphisms are associated with nutritional status and blood glucose and lipid levels in women with diabetes/hypertense. These results contribute to genetic knowledge about predisposition to obesity-related diseases.

ABSTRACT Objective This study aims to describe the distribution of main celiac disease risk alleles related to human leucocyte antigen complex and their association to the severity of intestinal injury, serological test results, CD-associated diseases and symptomatology. Methods The DNA of 140 celiac disease patients was analyzed, and the distribution of the three most important risk alleles to the celiac disease development was identified (DQA1*05:01, DQB1*02:01 and DRB1*04, the last one as a DQB1*03:02/DQA1*03/DRB1*04 haplotype marker). Data on serological tests, biopsy results, symptomatology and incidence of CD-associated diseases were collected by using a previously validated questionnaire. Results It was found that 98% of patients presented at least one copy of the studied alleles. Patients carrying simultaneously both HLA-DQ2 risk alleles were highly prevalent (75%), and 20.7% patients carried the HLA-DQ8 haplotype. Positive patients for both HLA-DQ2 risk alleles presented positive association to anti-gliadin (p=0.037), anti-endomysium (p=0.001) and anti-transglutaminase (p=0.032) serological tests, and a higher prevalence of osteoporosis and hypothyroidism. Patients carrying one or none of those alleles often presented negative serological results. In addition, it was found an association between intestinal injury severity and genetic profile (No-BreakpNo-Break<0.001). Conclusion Results suggest that the HLA-DQ genotyping are associated to serological tests and the severity of intestinal damage in celiac disease patients.

RESUMO Objetivo Este estudo tem como objetivo descrever a distribuição dos principais alelos de risco da doença celíaca relacionados ao complexo antígeno leucocitário humano e sua associação com a gravidade da lesão intestinal, resultados de testes sorológicos, doenças associadas à doença celíaca e sintomatologia. Métodos Foi analisado o DNA de 140 pacientes com doença celíaca e identificada a distribuição dos três alelos de risco mais importantes para o desenvolvimento de doença celíaca (DQA1*05:01, DQB1*02:01 e DRB1*04, sendo este o último um marcador para o aplótipo de risco DQB1*03:02/DQA1*03/DRB1*04). Os dados de exames sorológicos, resultados de biópsia, sintomatologia e incidência de doenças associadas à doença celíaca foram coletados por meio de questionário previamente validado. Resultados Verificou-se que 98% dos pacientes apresentavam pelo menos uma cópia dos alelos estudados. Pacientes portadores simultaneamente de ambos os alelos de risco HLA-DQ2 foram altamente prevalentes (75.0%), e 20,7% dos pacientes carregavam o haplótipo HLA-DQ8. Pacientes positivos para ambos os alelos de risco HLA-DQ2 apresentaram associação positiva aos testes sorológicos anti-gliadina (p=0,037), anti-endomísio (p=0,001) e anti-transglutaminase (p=0,032), e maior prevalência de osteoporose e hipotireoidismo. Pacientes portadores de um ou nenhum desses alelos frequentemente apresentavam resultados sorológicos negativos. Além disso, foi encontrada associação entre gravidade da lesão intestinal e perfil genético (p<0,001). Conclusão Os resultados sugerem que a genotipagem do HLA-DQ está associada aos testes sorológicos e à gravidade do dano intestinal em pacientes com doença celíaca.