Association of ABCA1 (rs2472493) and GAS7 (rs9913911) gene variants with primary open-angle glaucoma in a Brazilian population.

Purpose: Glaucoma is the world's leading cause of irreversible blindness, with primary open-angle glaucoma (POAG) being the most prevalent subtype. In recent years, there have been advances in knowledge about the genetics involved in POAG, but genetic studies in admixed populations, such as Brazilians, are still rare. This study aimed to evaluate the association of single nucleotide variants (SNV) of the ABCA1 (rs2472493) and GAS7 (rs9913911) genes with POAG in a sample of the Brazilian population. Furthermore, the study aimed to evaluate the relationship between these SNVs and the need for surgical intervention in glaucoma control. Methods: A cross-sectional association study with 1,009 subjects (505 patients with POAG and 504 controls) was performed. Participants underwent a comprehensive ocular examination, including the need for surgical procedures for intraocular pressure control. Genotyping of SNVs was performed using the TaqMan genotyping assay. Results: SNV rs9913911 of GAS7 was found to be associated with POAG in the presence of the risk allele A (p = 0.0004) and the AA genotype (p = 0.002). There was no association between SNV rs2472493 of ABCA1 for either the allele risk or genotypes. However, the combination of these variants showed an additive effect on the risk for POAG: ABCA1(GG) + GAS7(AA; p = 0.02), ABCA1(GG) + GAS7(AG; p = 0.003), and ABCA1(AG) + GAS7(AG; p = 0.004). Also, POAG patients carrying the AA genotype of the GAS7 gene required antiglaucomatous surgery more frequently than those without the AA genotype (p = 0.01). Conclusions: In a Brazilian population sample, there was an association identified between SNV rs9913911 (GAS7) and the risk of POAG, and an additive effect was found when GAS7 was combined with SNV rs2472493 (ABCA1). There was an association between SNV rs9913911 (GAS7) and the risk for antiglaucomatous surgery.

Avaliação da colesterolenia não HDL em escolares e adolescentes / Evaluation of non-HDL cholesterolemia in schoolchildren and teenagers

Objetivo: avaliar os níveis séricos de não HDL-colesterol (não HDL-c) e perfil lipídico em jovens entre seis e 19 anos. Método: estudo descritivo transversal e descritivo. As variáveis foram: colesterol total e frações, não HDL-c, triglicérides e IMC. Excluíram-se portadores de doença ou em uso de fármaco que alterem o perfil lipídico e pacientes com triglicérides > 400 mg/dL. Utilizado SPSS-17 para análise das variáveis. Resultados: participaram 108 jovens, sendo 63 do gênero feminino. Na amostra total, a média de não HDL-c foi 114,7 mg/dL e de LDL-c 94,9 mg/dL. Não houve diferença significativa dos valores de não HDL-c e LDL-c entre os gêneros e faixa etária. No estudo, o LDL-c e o não HDL-c tiveram forte correlação entre si R= 0,864 e com o colesterol total R= 0,890 e R= 0,907, respectivamente. O LDL-c correlacionou-se negativamente com VLDL-c. O não HDL-c correlacionou-se positivamente com VLDL-c e triglicérides.Quanto ao IMC, 3,7% estavam abaixo do normal, 49,1% eutróficos, 23,1% com sobrepeso e 24,1% obesos. Pacientes obesos apresentaram níveis significativamente maiores de não HDL-c, VLDL-c e TG e nível menor de HDL-c em relação aos eutróficos. Os valores de não HDL-c correspondentes aos percentis 75 e 95 foram 129 e 157 mg/ dL, respectivamente. Conclusão: não HDL-c obteve melhor correlação que o LDL-c com diferentes variáveis lipídicas e foi melhor parâmetro na avaliação lipídica em pacientes obesos. Assim, o não HDL-c mostrou-se método confiável e promissor para investigar dislipidemias em escolares e adolescentes.

Objective: to evaluate the serum levels of non-HDL-cholesterol (non-HDL-c) and lipid profile in young people between six and 19 years old. Method: this was a cross-sectional and descriptive, and descriptive study. The variables were: total cholesterol and fractions, non-HDL-c, triglycerides, and BMI. Those with disease or using drugs that alter the lipid profile, and patients with triglycerides > 400 mg/dL were excluded from the study. SPSS- 17 was used for the analysis of variables. Results: 108 young people participated; 63 females. The average of non-HDL-c was 114.7 mg/dL and LDL-c 94.9 mg/dL. There was no significant difference between the values of non-HDL-c and LDL-c between genders and age groups. LDL-c and non-HDL-c showed strong correlation, R = 0.864 and total cholesterol R= 0.890 and R= 0.907, respectively. LDL-c negatively correlated with VLDL-c. Non-HDL-c positively correlated with VLDL-c and triglycerides. The IMC results showed that 3.7% were below normal, 49.1% eutrophic, 23.1% overweight, 24.1% obese. Obese patients showed significantly higher levels of non-HDL-c, VLDL-c, and TG and lower levels of HDL-c compared to eutrophics. The values of non-HDL-c corresponding to 75 and 95 percentiles were 129 and 157 mg/dL, respectively. Conclusion: non-HDL-c showed better correlation than LDL-c with different lipid variables and was the best parameter for lipid assessment in obese patients. Thus, non-HDL-c showed to be a reliable and promising method of investigating dyslipidemias in schoolchildren and teenagers.