Negative results in screening for possible new sequence variations on ATP-binding cassette transporter A1 gene in Turkish adults with metabolic syndrome

Objectives: ATP binding cassette transporter A1 (ABCA1) plays a pivotal role in the reverse cholesterol transport. Some mutations in the ABCA1 gene have correlation with changes in serum high-density lipoprotein-cholesterol (HDL-C) and other lipids concentrations. The role of genetic factors in susceptibility to metabolic syndrome (MetS) is not clear. The aim of this study was to explore the relationship between ABCA1 gene and the MetS. Study design: Therefore, to investigate probable new mutations in the functional regions of the ABCA1 gene, 14th, 19th and 49th exons were analyzed using single strand conformational polymorphism method in 220 subjects, 110 of whom had MetS, selected from the Turkish Adults Risk Factor study. Results: No significant relationship was found between the functional region of ABCA1 and MetS. The risk for low HDLC- high triglyceride levels and MetS are not associated with selected functional regions of the gene, 14th, 19th and 49th exons, which code for the first extracellular loop, the nucleotide binding domain and the C-terminal region, respectively. Conclusion: These data indicate that the mutations and polymorphisms in ABCA1 gene are not associated with MetS in Turks.