Juliana Faggion Lucatelli

The influence of the S19W SNP of the APOA5 gene on triglyceride levels in southern Brazil: Interactions with the APOE gene, sex and menopause status

BACKGROUND AND AIMS Hypertriglyceridemia is an important independent risk factor for coronary artery diseases and is determined by a wide range of factors, both genetic and exogenous. The A5 apolipoprotein, which is associated with the synthesis and removal of triglycerides (TG), is encoded by the APOA5 gene. One of the polymorphisms of this gene that has been the focus of a large number of studies, and which appears to be associated with increased TG, is S19W (rs 3135506). In this study, we examined the influence of this single nucleotide polymorphism (SNP) on TG levels of a sample of southern Brazilians. METHODS AND RESULTS Samples obtained from 567 people of European descent were genotyped; interactions between this variant and anthropometric variables were analyzed, and the effects of lifestyle, sex, menopause, and variations of the APOE gene were evaluated. We found that the 19W allele is associated with increased TG (p = 0.025) and that this influence was modulated by sex (p = 0.003), menopause (p = 0.022) and the presence of the E*4 allele (p = 0.027). CONCLUSION Our data showed, for the first time, the importance and magnitude of the influence of the S19W variant in a southern Brazilian population.

Influência genética sobre a doença de Alzheimer de início precoce

CONTEXTO: A doenca de Alzheimer de inicio tardio (DAIT) representa a maior parte dos casos de doenca de Alzheimer (DA). OBJETIVO: Revisar resultados relevantes para genes candidatos e de suscetibilidade para a DAIT. METODOS: Revisao bibliografica, a partir de 1990, empregando os bancos de dados PubMed e SciELO. RESULTADOS: Polimorfismos geneticos sao mais relevantes para a DAIT que mutacoes, sendo que o alelo E*4 do gene APOE e o maior fator de risco conhecido ate o momento. No entanto, outros genes vem sendo investigados e existem dados disponiveis sobre a relacao com DAIT para os genes da apolipoproteina CI, alfa-1-antiquimiotripsina, receptor sigma tipo 1, enzima conversora de angiotensina, alfa 2-macroglobulina, proteina relacionada ao receptor de LDL, interleucina 1 alfa e beta, paraoxonase, transportador de serotonina e receptores de serotonina. CONCLUSOES: A DAIT tem etiologia multifatorial e um grande numero de marcadores geneticos influencia em seu desenvolvimento. Essas variantes precisam ser investigadas na populacao brasileira, cuja formacao etnica e distinta daquela de populacoes norte-americanas e europeias. Somente assim sera possivel a determinacao do perfil genetico de risco, que facilitara a deteccao de individuos com maior probabilidade de desenvolver a doenca.

Conjuntivite por Achromobacter xylosoxidans: relato de caso

We report here a case of conjunctivitis in an immunocompetent patient due to Achromobacter xylosoxidans, which was associated with the use of rigid contact lenses. The bacteria were isolated from the scraped conjunctival swab as well as from the lens cleaning fluid. A. xylosoxidans is an opportunistic pathogen, especially in immunocompromised patients; however, in isolates of ocular infections, from immunocompetent patients, it may be confused with other gram-negative organisms, particularly Pseudomonas aeruginosa. Due to an increased resistance against different antimicrobial agents, A. xylosoxidans must be fully identified and differentiated from other gram-negative isolates from ocular infections.