Association of the polymorphisms of the genes APOC3 (rs2854116), ESR2 (rs3020450), HFE (rs1799945), MMP1 (rs1799750) and PPARG (rs1801282) with lipodystrophy in people living with HIV on antiretroviral therapy: a systematic review

• Published in: Molecular biology reports 2020-06, Vol.47 (6), p.4779-4787
• Main Authors: da Silva, Andreia Soares, Carvalho, Tatiana Lins, do Ó, Kleyton Palmeira, da Nóbrega, Débora Nascimento, dos Santos Souza, Roberta, da Silva Lima, Victor Fernando, Farias, Isabela Cristina Cordeiro, de Mendonça Belmont, Taciana Furtado, de Mendonça Cavalcanti, Maria do Socorro, de Barros Miranda-Filho, Demócrito
• Format: Article
• Language: English
• Subjects: Alleles; Animal Anatomy; Animal Biochemistry; Antiretroviral drugs; Apolipoprotein C-III - genetics; Apolipoprotein C-III - metabolism; Biomedical and Life Sciences; Estrogen Receptor beta - genetics; Female; Gene Frequency; Genes; Genetic Association Studies - methods; Genetic markers; Genotype; Hemochromatosis Protein - genetics; Hemochromatosis Protein - metabolism; Highly active antiretroviral therapy; Histology; HIV; HIV - drug effects; HIV - pathogenicity; HIV Infections - genetics; HIV-Associated Lipodystrophy Syndrome - genetics; HIV-Associated Lipodystrophy Syndrome - metabolism; Human immunodeficiency virus; Humans; Life Sciences; Lipoatrophy; Lipodystrophy; Lipodystrophy - complications; Lipodystrophy - genetics; Male; Matrix Metalloproteinase 1 - genetics; Matrix Metalloproteinase 1 - metabolism; Morphology; Peroxisome proliferator-activated receptors; Polymorphism, Single Nucleotide; Population studies; PPAR gamma - genetics; PPAR gamma - metabolism; Review; Reviews; Systematic review
• ISSN: 0301-4851; 1573-4978
• DOI: 10.1007/s11033-020-05441-3

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.