Objective: 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. Methods: A total of 996 T2DM patients and 1,002 controls were included in the study. Three SNPs in the ABCA1 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. Results: There were significant associations between rs1800977 and T2DM in different genetic models (TT vs. CC, OR = 0.591 [0.446–0.793], p < 0.001; T vs. C, OR = 0.835 [0.735–0.949], p = 0.006; recessive model, OR = 0.583 [0.449–0.756], p < 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], p = 0.048; T vs. C, OR = 1.756 [0.694–1.060], p = 0.029; dominant model, OR = 1.735 [0.715–1.034], p = 0.037). Conclusion: Our case-control study showed that the two SNPs rs1800977 and rs9282541 in the ABCA1 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.

中文翻译：

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ABCA1 变体 rs1800977 (C69T) 和 rs9282541 (R230C) 与 2 型糖尿病的易感性有关

目的：积累的证据表明，ATP 结合盒 A1 转运蛋白 (ABCA1) 有助于在胰腺 β 细胞中分泌胰岛素和淀粉样蛋白 β 的形成。本研究旨在探讨 ABCA1 的三个单核苷酸多态性 (SNP) 与汉族人群 2 型糖尿病 (T2DM) 易感性之间的关联。方法：本研究共纳入 996 名 T2DM 患者和 1,002 名对照。ABCA1 基因中的三个 SNP，即 rs2230806 (R219K)、rs1800977 (C69T) 和 rs9282541 (R230C)，通过 SNaPshot 进行基因分型。使用基因型模型、等位基因模型、显性模型和隐性模型来评估对 T2DM 的易感性。结果：rs1800977 与 T2DM 在不同遗传模型中存在显着相关性（TT vs. CC，OR = 0.591 [0.446–0.793]，p < 0.001；T vs. C，OR = 0.835 [0.735–0.949]，p = 0.006；隐性模型，OR = 0.583 [0.449–0.756]，p < 0.001）。在不同的遗传模型中，rs9282541 和 T2DM 之间也存在显着关联（CT 与 CC，OR = 1.690 [0.807-1.005]，p = 0.048；T 与 C，OR = 1.756 [0.694-1.060]，p = 0.029；显性模型，OR = 1.735 [0.715–1.034]，p = 0.037）。结论：我们的病例对照研究表明，ABCA1 基因中的两个 SNP rs1800977 和 rs9282541 与我们汉族人群的 T2DM 易感性显着相关。在应用于临床治疗之前应进行进一步机制的研究。C，OR = 1.756 [0.694–1.060]，p = 0.029；显性模型，OR = 1.735 [0.715–1.034]，p = 0.037）。结论：我们的病例对照研究表明，ABCA1 基因中的两个 SNP rs1800977 和 rs9282541 与我们汉族人群的 T2DM 易感性显着相关。在应用于临床治疗之前应进行进一步机制的研究。C，OR = 1.756 [0.694–1.060]，p = 0.029；显性模型，OR = 1.735 [0.715–1.034]，p = 0.037）。结论：我们的病例对照研究表明，ABCA1 基因中的两个 SNP rs1800977 和 rs9282541 与我们汉族人群的 T2DM 易感性显着相关。在应用于临床治疗之前应进行进一步机制的研究。