Effects of SNVs in ABCA1, ABCG1, ABCG5, ABCG8, and SCARB1 Genes on Plasma Lipids, Lipoproteins, and Adiposity Markers in a Brazilian Population.

Autor: Zago VHS; Department of Clinical Pathology, Faculty of Medical Sciences, State University of Campinas, Tessália Vieira de Camargo St, 126, Campinas, São Paulo, 13084-971, Brazil., Scherrer DZ; Department of Clinical Pathology, Faculty of Medical Sciences, State University of Campinas, Tessália Vieira de Camargo St, 126, Campinas, São Paulo, 13084-971, Brazil., Parra ES; Department of Cardiology, Faculty of Medical Sciences, State University of Campinas, Tessália Vieira de Camargo St, 126, Campinas, São Paulo, 13084-971, Brazil., Vieira IC; Department of Clinical Pathology, Faculty of Medical Sciences, State University of Campinas, Tessália Vieira de Camargo St, 126, Campinas, São Paulo, 13084-971, Brazil., Marson FAL; Department of Pediatrics, Faculty of Medical Sciences, State University of Campinas, Tessália Vieira de Camargo St, 126, Campinas, São Paulo, 13084-971, Brazil. fernandolimamarson@hotmail.com.; Department of Medical Genetics and Genomic Medicine, Faculty of Medical Sciences, State University of Campinas, Tessália Vieira de Camargo St, 126, Campinas, São Paulo, 13084-971, Brazil. fernandolimamarson@hotmail.com.; Laboratory of Human and Medical Genetics and Laboratory of Cell and Molecular Tumor Biology and Bioactive Compounds, Post Graduate Program in Health Science, São Francisco University, Avenida São Francisco de Assis, 218, Jardim São José, Bragança Paulista, São Paulo, 12916-900, Brazil. fernandolimamarson@hotmail.com., de Faria EC; Department of Clinical Pathology, Faculty of Medical Sciences, State University of Campinas, Tessália Vieira de Camargo St, 126, Campinas, São Paulo, 13084-971, Brazil. cottadefaria@gmail.com.
Jazyk: angličtina
Zdroj: Biochemical genetics [Biochem Genet] 2022 Apr; Vol. 60 (2), pp. 822-841. Date of Electronic Publication: 2021 Sep 09.
DOI: 10.1007/s10528-021-10131-1
Abstrakt: Several proteins are involved in cholesterol homeostasis, as scavenger receptor class B type I and ATP-binding cassette (ABC) transporters including ABCA1, ABCG1, ABCG5, and ABCG8. This study aimed to determine the effects of single nucleotide variants (SNVs) rs2275543 (ABCA1), rs1893590 (ABCG1), rs6720173 (ABCG5), rs6544718 (ABCG8), and rs5888 (SCARB1) on plasma lipids, lipoproteins, and adiposity markers in an asymptomatic population and its sex-specific effects. Volunteers (n = 590) were selected and plasma lipids, lipoproteins, and adiposity markers (waist-to-hip and waist-to-height ratios, lipid accumulation product and body adiposity index) were measured. Genomic DNA was isolated from peripheral blood cells according to the method adapted from Gross-Bellard. SNVs were detected in the TaqMan® OpenArray® Real-Time polymerase chain reaction platform and data analyses were performed using the TaqMan® Genotyper Software. The rs2275543*C point to an increase of high-density lipoprotein size in females while in males very-low-density lipoprotein, cholesterol, and triglycerides were statistically lower (P value < 0.05). The rs1893590*C was statistically associated with lower apolipoprotein A-I levels and higher activities of paraoxonase-1 and cholesteryl ester transfer protein (P value < 0.05). The rs6720173 was statistically associated with an increase in cholesterol and low-density lipoprotein cholesterol in males; moreover, rs6544718*T reduced adiposity markers in females (P value < 0.05). Regarding the rs5888, a decreased adiposity marker in the total population and in females occurred (P value < 0.05). Multivariate analysis of variance showed that SNVs could influence components of high-density lipoprotein metabolism, mainly through ABCG1 (P value < 0.05). The ABCA1 and ABCG5 variants showed sex-specific effects on lipids and lipoproteins, while SCARB1 and ABCG8 variants might influence adiposity markers in females. Our data indicate a possible role of ABCG1 on HDL metabolism.
(© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
Databáze: MEDLINE
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