Du Weiping, Hu Zhixi, Wang Li, Li Miaomiao, Zhao Dong, Li Hui, Wei Junsheng, Zhang Rui
Department of Clinical Laboratory, Affiliated Hospital of Yan'an University, Yan'an, China.
Department of Clinical Laboratory, Affiliated Hospital of Yan'an University, Yan'an, China,
Public Health Genomics. 2020;23(1-2):20-25. doi: 10.1159/000505344. Epub 2020 Jan 24.
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.
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.
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).
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.
越来越多的证据表明，ATP结合盒A1转运体（ABCA1）有助于胰腺β细胞分泌胰岛素以及淀粉样β蛋白的形成。本研究旨在探讨ABCA1基因的三个单核苷酸多态性（SNP）与中国汉族人群2型糖尿病（T2DM）易感性之间的关联。
本研究共纳入996例T2DM患者和1002例对照。采用SNaPshot技术对ABCA1基因中的三个SNP，即rs2230806（R219K）、rs1800977（C69T）和rs9282541（R230C）进行基因分型。采用基因型模型、等位基因模型、显性模型和隐性模型评估T2DM的易感性。
rs1800977与T2DM在不同遗传模型中存在显著关联（TT与CC相比，OR = 0.591 [0.446 - 0.793]，p < 0.001；T与C相比，OR = 0.835 [0.735 - 0.949]，p = 0.006；隐性模型，OR = 0.583 [0.449 - 0.756]，p < 0.001）。rs9282541与T2DM在不同遗传模型中也存在显著关联（CT与CC相比，OR = 1.690 [0.807 - 1.005]，p = 0.048；T与C相比，OR = 1.756 [0.694 - 1.060]，p = 0.029；显性模型，OR = 1.735 [0.715 - 1.034]，p = 0.037）。
我们的病例对照研究表明，ABCA1基因中的两个SNP，即rs1800977和rs9282541，与中国汉族人群T2DM的易感性显著相关。在应用于临床治疗之前，应进一步研究其机制。
