Genetics
An ABCG1 gene variant is linked to higher CETP activity in a Brazilian population study (Biochem Genet 2022)
Original title: Effects of SNVs in ABCA1, ABCG1, ABCG5, ABCG8, and SCARB1 Genes on Plasma Lipids, Lipoproteins, and Adiposity Markers in a Brazilian Population
In 590 asymptomatic Brazilian volunteers, researchers tested single nucleotide variants in ABCA1, ABCG1, ABCG5, ABCG8 and SCARB1 for associations with plasma lipids, lipoproteins and adiposity markers, with sex-specific analyses. The ABCG1 variant rs1893590*C was statistically associated with lower apolipoprotein A-I levels and higher activities of both paraoxonase-1 and CETP (P less than 0.05), while other variants showed distinct effects: rs2275543 (ABCA1) affected HDL particle size and VLDL/cholesterol/triglycerides in a sex-specific manner, rs6720173 (ABCG5) raised cholesterol and LDL cholesterol in males, and rs6544718 (ABCG8) and rs5888 (SCARB1) affected adiposity markers mainly in females. Multivariate analysis indicated these SNVs, particularly in ABCG1, influence HDL metabolism, supporting a possible role for ABCG1 genetic variation in modulating CETP activity alongside other HDL-related pathways.
Original 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® 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.
Summary written by cetpinhibition.org from the published abstract; figures as published. Page updated 19 August 2026. Methods.