Polymorphisms in ABC transporters (ABCA1 and ABCC8) in metabolic syndrome

• Published in: Turkish journal of medical sciences
• Main Authors: DEĞER, Orhan, YANDI, Yunus Emre, AYVAZ, Mihriban, EREM, Cihangir, HACIHASANOĞLU, Arif Bayram
• Format: Journal Article
• Language: English
• Published: Turkish Journal of Medical Sciences 01.01.2013
• Subjects: Key words: Metabolic syndrome, ATP-binding cassette transporters, ABCA1, ABCC8 (SUR1, sulfonylurea receptor), polymorphisms
• ISSN: 1303-6165; 1300-0144
• DOI: 10.3906/sag-1204-23

To identify important single nucleotide polymorphisms (SNPs) in the ABCA1 and ABCC8 (SUR1) genes and determine if they are associated with metabolic syndorome (MetS). Materials and methods: Fifty-eight subjects fulfilling all 5 MetS criteria were chosen from 4809 subjects who participated in our screening study (Trabzon MetS study). Forty-three subjects who did not fulfill any MetS criteria were chosen as the control group. Genotyping of the samples after DNA isolation was performed by direct sequencing. For SNP analysis, exons 7, 15, 19, 36, 41, and 49 for ABCA1 and exons 16 and 18 for ABCC8 were selected. Results: The most important SNPs in the present study were R219K (AGG-AAG for codon 219 in exon 7) for ABCA1, and 16-3t (CTT-TTT for codon 723 in exon 16) and GAC-GAG for codon 760 in exon 18 for ABCC8. Conclusion: It was concluded that MetS may be associated with polymorphisms in ABCA1 and ABCC8.