👤 Kleyton Palmeira do Ó

The pathogenesis of lipodystrophy in people living with HIV (PLWHIV) receiving antiretrovirals appears to be multifactorial and may involve genetic factors; however, it is not yet fully understood. We verified the association between single nucleotide polymorphisms in the APOC3-rs2854116, ESR2-rs3020450, HFE-rs1799945 and MMP1-rs1799750 genes and lipodystrophy and its subtypes in PLWHIV receiving antiretroviral. Design: cross-sectional study. Lipodystrophy definition was based on self-report. Genotyping of the polymorphisms was performed using real-time polymerase chain reaction. Lipodystrophy was reported in 204/404 participants (51%), being 89/204 with mixed lipodystrophy, 72/204 with lipohypertrophy, and 43/204 with lipoatrophy. There was no association between APOC3, HFE, and MMP1 polymorphisms and lipodystrophy. The frequency of AA genotype ( Participants with lipoatrophy had higher frequency of the AA genotype and the A allele of the ESR2-rs3020450 polymorphism. In addition, viral load >40 copies/mL and current use of zidovudine were associated with lipoatrophy, suggesting a potential involvement of this genetic variant in the pathogenesis of lipoatrophy in PLWHIV receiving antiretroviral. Show less

The aim of this study was to perform a systematic review to identify data reported in the literature concerning the association of APOC3 (rs2854116), ESR2 (rs3020450), HFE (rs1799945), MMP1 (rs1799750) and PPARG (rs1801282) polymorphisms with lipodystrophy in people living with HIV (PLWHIV) on antirretroviral therapy. The research was conducted in six databases and the studies were selected in two steps. First, a search was undertaken in the following electronic databases: PubMed, Science Direct, Medline, World Wide Science, Directory of Open Access Journals, Scielo, Lilacs and Medcarib. The titles and abstracts of 24,859 articles were read to select those that match the elegibilty criteria. Five papers that addressed the association of HAART, lipodystrophy and polymorphisms were selected for the review. There was no association between the polymorphisms of the genes APOC3 and PPARG and lipodystrophy. Another study described an association between the variant allele (G) of HFE and protection concerning the development of lipoatrophy (0.02) when compared with the reference allele (C). On the other hand, the variant allele (T) of the ESR2 gene was associated with the development of lipoatrophy (p = 0.007) when compared with the reference allele (C). In addition, the genotype and the variant allele of the gene MMP1 (2G) were associated with lipodystrophy in PLWHIV on HAART (p = 0.0002 and p = 0.0008, respectively). Therefore, further studies with other populations, involving PLWHIV on HAART are necessary to better understand the role of genetic markers, which may be involved in a predisposition to lipodystrophy. Show less