Perforin gene PRF1 c.900C> T polymorphism and HIV-1 vertical transmission

Functional impact of A91V mutation of the PRF1 perforin gene.

Perforin (PRF1) gene mutations have been associated with Familial Hemophagocytic Lymphohistiocytosis type 2 (FHL2). Substitution p.A91V (c.272C>T) in exon 2 was first described as a neutral polymorphism. Nonetheless, recent clinical evidence and functional assays, suggest a potential pathogenic role for p.A91V, especially in compound heterozygous individuals. Moreover, p.A91V homozygosity has b...

SLCO2B1 gene polymorphism and anti-retroviral therapy side effects in HIV-1 infected patients

Abstract Background and Objectives HIV virus and its subsequent disease is one of the most important challenges of the world health system. Although antiretroviral therapy (ART) is a breakthrough in patients’ life quality, it has complications like side effects. The side effect causes are diverse. One of the factors considered about side effects is genes polymorphism. This study investigates th...

Hiv-1 Phenotype and Genetic Variation in Vertical Transmission

HIV-1 vertical transmission is increasing worldwide despite that successful strategies are available. Reduction of vertical transmission has been established by antiretroviral prophylaxis and elective Caesarian section, but this has been limited to the developed countries. In the developing world the lack of resources, the necessity of breastfeeding, social and ethical factors, have all contrib...

HIV / AIDS : Vertical Transmission Enrique

Evaluation of factors associated with vertical HIV-1 transmission.

OBJECTIVE To compare the prevalence and factors associated with vertical transmission of human immunodeficiency virus 1 (HIV-1) among pregnant women treated in the periods of 1998-2004 and 2005-2011 in a reference service for the care of HIV-infected patients in southern Brazil. METHODS This was a descriptive and analytical study that used the databases of laboratories from the CD4 and STDs/A...