ABCA1 Variants rs1800977 (C69T) and rs9282541 (R230C) Are Associated with Susceptibility to Type 2 Diabetes
In: Public health genomics, Band 23, Heft 1-2, S. 20-25
ISSN: 1662-8063
<b><i>Objective:</i></b> Accumulated evidence suggests that ATP-binding cassette A1 transporter (ABCA1) contributes to secreting insulin in pancreatic β-cells and amyloid beta formation. This study aimed to investigate the association between three single nucleotide polymorphisms (SNPs) of ABCA1 and susceptibility to type 2 diabetes mellitus (T2DM) in a Han Chinese population. <b><i>Methods:</i></b> A total of 996 T2DM patients and 1,002 controls were included in the study. Three SNPs in the <i>ABCA1</i> gene, i.e., rs2230806 (R219K), rs1800977 (C69T), and rs9282541 (R230C), were genotyped by SNaPshot. A genotype model, an allele model, a dominant model, and a recessive model were used to assess susceptibility to T2DM. <b><i>Results:</i></b> There were significant associations between rs1800977 and T2DM in different genetic models (TT vs. CC, OR = 0.591 [0.446–0.793], <i>p</i> < 0.001; T vs. C, OR = 0.835 [0.735–0.949], <i>p</i> = 0.006; recessive model, OR = 0.583 [0.449–0.756], <i>p</i> < 0.001). There were also significant associations between rs9282541 and T2DM in different genetic models (CT vs. CC, OR = 1.690 [0.807–1.005], <i>p</i> = 0.048; T vs. C, OR = 1.756 [0.694–1.060], <i>p</i> = 0.029; dominant model, OR = 1.735 [0.715–1.034], <i>p</i> = 0.037). <b><i>Conclusion:</i></b> Our case-control study showed that the two SNPs rs1800977 and rs9282541 in the <i>ABCA1</i> gene are significantly associated with susceptibility to T2DM in our Han Chinese population. Study of further mechanisms should be performed before application to clinical therapy.