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.
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Data availability
The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.
Abbreviations
- ABC:
-
ATP-Binding Cassette
- ABCA1:
-
ATP-Binding Cassette Transporter A1
- ABCG1:
-
ATP-Binding Cassette Transporter G1
- ABCG5:
-
ATP-Binding Cassette Transporter G5
- ABCG8:
-
ATP-Binding Cassette Transporter G8
- Apo AI:
-
Apolipoprotein A-I
- Apo B:
-
Apolipoprotein B
- BMI:
-
Body mass index
- CETP:
-
Cholesteryl ester transfer protein
- HDL:
-
High-density lipoprotein
- HDL-C:
-
High-density lipoprotein cholesterol
- LDL:
-
Low-density lipoprotein
- LDL-C:
-
Low-density lipoprotein cholesterol
- Lp(a):
-
Lipoprotein (a)
- MANOVA:
-
Multivariate analysis of variance
- PON1:
-
Paraoxonase-1
- SAS:
-
Statistical analysis system
- SCARB1:
-
Scavenger receptor class B type I
- SNV:
-
Single nucleotide variant
- SPSS:
-
Statistical package for the social sciences
- VLDL-C:
-
Very-low-density lipoprotein cholesterol
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Acknowledgements
We thank Cleide Aparecida Moreira Silva from the Statistics Department, Faculty of Medical Sciences, State University of Campinas for the statistical assistance.
Funding
The work was supported by the State of São Paulo Research Foundation (FAPESP) Grant number 2006/60585-9 and by the National Council for Scientific and Technological Development (CNPq) Grant number 471380/2008-13. We also thank FAPESP for support (#2015/12858-5) to FALM.
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VHSZ, DZS, ESP, ICV, ECRQ—project design, patients’ data collection, article writing, and critical review; FALM—project design, article writing, and critical review, as well as statistical analysis of data; ECF—supervision, execution, and validation based on test repeatability, as well as clinical evaluation of the participating patients, and validation of phenotypic findings according to repeatability criteria. All authors have read the final version of the manuscript and approved its submission.
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10528_2021_10131_MOESM1_ESM.docx
Supplementary file1 (DOCX 30 KB) Description of the single nucleotide variants (SNVs) in ABCA1, ABCG1, ABCG5, ABCG8 and SCARB1 genes included in the study to perform the association analysis with plasma lipids, lipoproteins, and adiposity markers in a Brazilian population
10528_2021_10131_MOESM2_ESM.xlsx
Supplementary file2 (XLSX 35 KB) P-values and data distribution of the plasma lipids, lipoproteins, and adiposity markers according to the genotype groups of the single nucleotide variants (SNVs) in ABCA1, ABCG1, ABCG5, ABCG8 and SCARB1 genes.
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Zago, V.H.S., Scherrer, D.Z., Parra, E.S. et al. Effects of SNVs in ABCA1, ABCG1, ABCG5, ABCG8, and SCARB1 Genes on Plasma Lipids, Lipoproteins, and Adiposity Markers in a Brazilian Population. Biochem Genet 60, 822–841 (2022). https://doi.org/10.1007/s10528-021-10131-1
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DOI: https://doi.org/10.1007/s10528-021-10131-1