atp-binding cassette transporter a1 polymorphisms and haplotypes in risk of type 2 diabetes

Background: type 2 diabetes (t2d) is one of the fastest growing diseases in the world and may be related to abnormalities in serum lipid levels. the atp-binding cassette transportera1 (abca1) is a transporter that exports lipids from cells. objectives: the association between polymorphisms rs4149313 and rs2230806 of the abca1 gene in patients with t2d in southeast of iran was evaluated. methods: two hundred and fifty patients with t2d and the same number (250) of healthy control subjects were genotyped for two single nucleotide polymorphisms (snps) using the amplification-refractory mutation system-polymerase chain reaction (arms- pcr) method. results: aa, ag, and gg genotype frequencies of the rs4149313 polymorphism were, respectively, 60, 20, and 20% in patients with t2d and 68.8, 21.6, and 9.6% in control subjects. the gg genotype and g allele differed significantly as a risk factor for t2d between patients with t2d and control groups (p < 0.001 and p < 0.0001, respectively). the frequencies of the rs2230806 genotypes did not differ significantly between the t2d and control groups (p > 0.05). the rs4149313/g-rs2230806/g (gg) haplotype differed significantly as a risk factor for t2d between the t2d and control groups (p = 0.0014, or = 1.52, 95%ci = 1.18 - 1.96). conclusions: the g allele of the abca1 rs4149313 polymorphism was related with a higher risk of t2d, but no relationship existed between the abca1 rs2230806 polymorphism and t2d in the study population.