Background: ATP-binding cassette transporter A1 (ABCA1) mediates the transport of cholesterol and phospholipids from cells to lipid-poor apolipoproteins. It has been demonstrated that the ABCA1 gene C69T single nucleotide polymorphism (SNP; TT genotype) is associated with lower HDL cholesterol and higher triglycerides (TG) levels. The relation of this polymorphism with type 2 diabetes mellitus has also been shown.
Objective and hypotheses: As dyslipidemia and insulin resistance are important characteristics of the metabolic syndrome (MS), we aimed to investigate the role of the C69T SNP of the ABCA1 gene on MS parameters in obese children.
Method: A total of 284 obese children were enrolled to the study. Children were diagnosed as MS according to International Diabetes Federation definition. The frequencies of different genotype of the ABCA1 gene C69T SNP in simple obese and MS groups were investigated. The parameters of the dyslipidemia, insulin resistance, and hypertension were compared according to different genotype of the ABCA1 gene.
Results: The 105 of the 284 obese children had MS (36.9%). There was no statistical difference between simple obese and MS groups regarding the frequencies of investigated SNP (P 0.829). However, children with TT genotype had lower HDL levels (40.51±9.11 vs 45.35±9.50, P 0.031) and higher HOMA-IR levels (7.67±5.29 vs 5.63±3.79, P 0.037) than CC genotype carriers.
Conclusion: Although the direct relation of ABCA1 gene C69T SNP with MS could not be demonstrated, it has been shown that the TT genotype worsens dyslipidemia and insulin resistance parameters in obese children.
Funding: This work was supported by the Bezmialem Vakif University Research Council.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology