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

Author(s)

Souza Zago, Vanessa Helena ^[1] ; Scherrer, Daniel Zanetti ^[1] ; Parra, Eliane Soler ^[2] ; Vieira, Isabela Calanca ^[1] ; Lima Marson, Fernando Augusto ^{[3, 4, 5, 6]} ; de Faria, Eliana Cotta ^[1]

Affiliation

^[1] Univ Estadual Campinas, Fac Med Sci, Dept Clin Pathol, Tessalia Vieira Camargo St 126, BR-13084971 Campinas, SP - Brazil

^[2] Univ Estadual Campinas, Fac Med Sci, Dept Cardiol, Tessalia Vieira Camargo St 126, BR-13084971 Campinas, SP - Brazil

^[3] Univ Estadual Campinas, Fac Med Sci, Dept Pediat, Tessalia Vieira Camargo St 126, BR-13084971 Campinas, SP - Brazil

^[4] Univ Estadual Campinas, Fac Med Sci, Dept Med Genet & Genom Med, Tessalia Vieira Camargo St 126, BR-13084971 Campinas, SP - Brazil

^[5] Sao Francisco Univ, Lab Human & Med Genet, Ave Sao Francisco Assis 218, BR-12916900 Braganca Paulista, SP - Brazil

^[6] Sao Francisco Univ, Lab Cell & Mol Tumor Biol & Bioact Cpds, Post Grad Program Hlth Sci, Ave Sao Francisco Assis 218, BR-12916900 Braganca Paulista, SP - Brazil

• Document type: Journal article
• Source: BIOCHEMICAL GENETICS; SEP 2021.
• Web of Science Citations: 0

Abstract

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 (R) OpenArray (R) Real-Time polymerase chain reaction platform and data analyses were performed using the TaqMan (R) 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. (AU)

• FAPESP's process: 15/12858-5 - Identification of prevalent mutations and clinical and functional characterization of children and adults with primary ciliary dyskinesia
• Grantee: Fernando Augusto de Lima Marson
• Support Opportunities: Scholarships in Brazil - Post-Doctoral
• FAPESP's process: 06/60585-9 - Relation of the plasma HDL-cholesterol concentration with blood monocyte and whole body cholesterol metabolism parameters
• Grantee: Eder Carlos Rocha Quintão
• Support Opportunities: Research Projects - Thematic Grants