Transtorno por uso de álcool e HIV/AIDS

A ingestão de bebidas alcoólicas é um evento socioculturalmente aceito em muitos países. Porém, o consumo frequente e descontrolado deste tipo de bebida configura o transtorno por uso de álcool (TUA). Esta condição causa agravos que podem afetar a sociedade de uma forma geral. O TUA também pode levar os pacientes a contraírem doenças. Entre estas, existe uma relação importante entre TUA e doenças infectocontagiosas, com destaque para a infecção pelo HIV e o posterior desenvolvimento da AIDS. Portanto, a presente pesquisa objetivou realizar uma revisão da literatura sobre as relações entre TUA e HIV/AIDS. A seleção do material científico foi efetuada tendo por base plataformas eletrônicas, tais como: Google Scholar, MEDLINE, LILACS, SciELO, NCBI / PUBMED, Scopus e Science Direct. O entendimento dos fatores relacionados ao TUA, principalmente em pacientes com HIV/AIDS, é de fundamental importância para a formulação e criação de estratégias de políticas públicas que visem reduzir esta possível relação. Palavras-chave: TUA; HIV; AIDS; políticas pública

O polimorfismo HTR2A -1438 A>G e as dependências de álcool e de nicotina

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Gene polymorphism and plasma levels of miR-155 in diabetic retinopathy

Circulating microRNA-155 (miR-155) is associated with type 2 diabetes mellitus (T2DM) and the rs767649 polymorphism in the pre-MIR155 gene is associated with miR-155 expression. However, their relationship with diabetic retinopathy (DR) is still unknown. Therefore, the aim of this case-control study was to test the hypothesis that the rs767649 polymorphism in the pre-MIR155 gene is associated with DR in South Brazilians with T2DM. We also evaluated the association of plasma levels of miR-155 with DR and the rs767649 polymorphism in a subgroup of subjects. The rs767649 polymorphism was genotyped in 139 blood donors and 546 T2DM patients (244 had no DR, 161 had non-proliferative DR and 141 had proliferative DR). miR-155 expression was quanti fied in 20 blood donors and 60 T2DM patients (20 from each group). Among T2DM patients, the carriership of the A allele and the A allele were more frequent in subjects with DR than in those without it (P < 0.05), and the A allele was independently associated with an increased risk of DR (adjusted OR = 2.12, 95% CI = 1.12–4.01). The plasma levels of miR-155 were lower in T2DM patients than in blood donors (P < 0.001). However, the miR-155 levels did not differ according to the presence and severity of DR or according to rs767649 genotypes among T2DM patients. These findings support that the rs767649 po lymorphism in the pre-MIR155 gene is associated with DR in T2DM and that the miR-155 plasma levels might be associated with T2DM. Additional studies are needed to further investigate their clinical significance in DR and T2DM

Association of polymorphisms in the erythropoietin gene with diabetic retinopathy : a case–control study and systematic review with meta-analysis

Background: Diabetic retinopathy (DR) is characterized by ischemia, hypoxia, and angiogenesis. Erythropoietin (EPO), an angiogenic hormone, is upregulated in DR, and the association of EPO genetic variants with DR is still uncertain, as conflicting results have been reported. Therefore, we performed a case–control study followed by a metaanalysis to investigate whether the rs1617640, rs507392, and rs551238 polymorphisms in EPO gene are associated with DR. Methods: The case–control study included 1042 Southern Brazilians with type 2 diabetes (488 without DR and 554 with DR). Eligible studies for the meta-analysis were searched from electronic databases up to June 1, 2021. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were estimated for five genetic inheritance models. Results: The minor alleles of the EPO polymorphisms had nearly the same frequency in all groups of patients (35%), and no association was detected with DR in the case–control study. The meta-analysis included 14 independent sets of cases and controls with 9117 subjects for the rs1617640 polymorphism and nine independent sets with more than 5000 subjects for the rs507392 and rs551238 polymorphisms. The G allele of the rs1617640 polymorphism was suggestively associated with DR under the dominant (OR = 0.82, 95% CI: 0.68–0.98), heterozygous additive (OR = 0.82, 95% CI: 0.69–0.97), and overdominant (OR = 0.88, 95% CI: 0.79–0.97) models. In the subgroup analyses, the G allele was also suggestively associated with proliferative DR (PDR), non-proliferative DR (NPDR), and DR (PDR + NPDR) among patients with type 1 diabetes (T1DM) or non-Asian ancestry. After considering the Bonferroni correction for multiple comparisons, the G allele remained associated with NPDR and DR in T1DM. Regarding the rs507392 and rs551238 polymorphisms, no association was found between these variants and DR. Conclusion: Our findings provide additional support to EPO as a susceptibility gene for DR, with the rs1617640 polymorphism deserving further investigation

Relationship of polymorphisms in the tissue inhibitor of metalloproteinase (TIMP)-1 and -2 genes with chronic heart failure

Dysregulated expression of tissue inhibitors of matrix metalloproteinases (TIMPs) is associated with systolic dysfunction and worsening heart failure (HF). However, no study has assessed the relationship between TIMP polymorphisms and chronic HF. In this study, 300 HF outpatients with reduced left ventricular ejection fraction and 304 healthy blood donors were genotyped for the 372 T > C polymorphism (Phe124Phe; rs4898) in the TIMP-1 gene and the −418 G > C polymorphism (rs8179090) in the TIMP-2 gene to investigate whether these polymorphisms are associated with HF susceptibility and prognosis. The genotype and allele frequencies of the 372 T > C polymorphism in HF patients were not significantly different from those observed among healthy subjects, and the C allele of the −418 G > C polymorphism was very rare in our population (frequency  0.05 for all comparisons). Thus, our findings do not support the hypothesis that the 372 T > C (Phe124Phe) polymorphism in the TIMP-1 gene and the −418 G > C polymorphism in the TIMP-2 gene are associated with HF susceptibility and prognosis in Southern Brazilians

Efeitos do complexo gênico CHRNA5-CHRNA3-CHRNB4 sobre o TDAH, a cognição e o tabagismo

O tabagismo é o transtorno por uso de substância mais prevalente, sendo a segunda causa de morte evitável no mundo. O tabagismo é fortemente relacionado com transtornos psiquiátricos, entre eles o transtorno de déficit de atenção/hiperatividade (TDAH). Há evidências de que o TDAH é um fator de risco e pode influenciar os mecanismos moleculares do tabagismo. A prevalência de tabagistas entre os pacientes com TDAH é maior quando comparada com a população geral. A cognição pode ser influenciada pelo tabagismo de maneira positiva e negativa, enquanto se observa uma melhora no desempenho cognitivo de alguns indivíduos, em outros é observado o efeito oposto, acarretando déficits permanentes. A nicotina atua através dos receptores nicotínicos de acetilcolina (nAChRs), que estão envolvidos em diversos processos no sistema nervoso central. Os nAChRs são importantes para modular a liberação de neurotransmissores como dopamina, acetilcolina e glutamato. O complexo gênico CHRNA5-CHRNA3-CHRNB4 codifica as subunidades α5, α3 e β4 de receptores nicotínicos, respectivamente. Estudos de associação e GWAS têm demonstrado esse complexo como importante na suscetibilidade ao tabagismo, assim como em outros transtornos psiquiátricos e na cognição. No presente trabalho, foram avaliados oito polimorfismos do complexo gênico na suscetibilidade ao tabagismo em pacientes com e sem TDAH e no desempenho cognitivo em pacientes com TDAH. A amostra foi composta por 1118 indivíduos, incluindo tabagistas e não tabagistas com TDAH e tabagistas e não tabagistas da população geral. Destes, em 313 tabagistas e não tabagistas com TDAH foi avaliado o desempenho cognitivo. Nossos resultados apontam associação de dois polimorfismos (rs578776 e rs3743078) com um maior risco para o tabagismo somente em pacientes com TDAH. Com relação à cognição, outros dois polimorfismos (rs588765 e rs8023462) foram associados com alto e baixo desempenho cognitivo, respectivamente. Além disso, a interação do polimorfismo rs588765 com o tabagismo mostrou resultado significativo, no qual o efeito positivo do polimorfismo é anulado pelo uso de nicotina. Nossos resultados confirmam o papel do complexo gênico CHRNA5-CHRNA3-CHRNB4 no tabagismo e na cognição, e reforçam o papel do TDAH como modulador na suscetibilidade ao tabagismo.Tobacco smoking is the most prevalent substance use disorder, considered the second cause of preventable death worldwide. Tobacco smoking is associated with psychiatric disorders, such as attention deficit/hyperactivity disorder (ADHD). There is evidence that ADHD is a risk factor and can influence the molecular mechanisms of tobacco smoking. The prevalence of smoking in patients with ADHD is higher when compared with general population. Cognition may be influenced by smoking in a positive or negative way, while it is observed an improvement in cognitive performance in some individuals, for others it is observed the opposite effect, leading to permanent deficits. Nicotine acts through nicotinic acetylcholine receptors (nAChRs), which are involved in a wide range of processes in central nervous system. nAChRs are important to modulate the release of neurotransmitter such as dopamine, acetylcholine and glutamate. CHRNA5- CHRNA3-CHRNB4 gene cluster encodes the nicotinic acetylcholine receptor α5, α3 and β4 subunits. Association studies and GWAS have demonstrated this cluster as relevant in the susceptibility of tobacco smoking, as well as in others psychiatric disorders and cognition. In the present study, eight polymorphisms in the gene cluster were analyzed in the susceptibility to smoking in patients with and without ADHD and in cognitive performance in patients with ADHD. The sample comprised 1118 individuals including smokers and nonsmokers with ADHD and smokers and nonsmokers from general population. Among these, in 313 smokers and nonsmokers with ADHD the cognitive performance was evaluated. Our results showed an association of two polymorphisms (rs578776 e rs3743078) with an increased risk for tobacco smoking only in patients with ADHD. Regarding cognition, another two polymorphisms (rs588765 e rs8023462) were associated with high and low cognitive performance, respectively. Moreover, the interaction between rs588765 polymorphism and smoking showed significant results, in which the positive effect of the polymorphism seems to be inhibited by nicotine use. Our results confirm the role of CHRNA5-CHRNA3-CHRNB4 gene cluster in tobacco smoking and cognition, and reinforce the role of ADHD as modulating tobacco smoking susceptibility

The seretonin 2A receptor gene in alcohol dependence and tobacco smoking

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Polimorfismos no gene do receptor de serotonina 1B e a dependência de álcool

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Estudo de associação entre o TDAH em adultos e o gene da enzima monoamino oxidase A (MAOA)

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Estudo de associação entre o TDAH em adultos e o gene da enzima monoamino oxidase A (MAOA)

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