马来西亚人群中2型糖尿病患者ATP结合盒转运蛋白A1基因多态性的关联研究
Association of ATP-Binding Cassette Transporter A1 Gene Polymorphisms in Type 2 Diabetes Mellitus among Malaysians.
作者信息
Haghvirdizadeh Polin, Ramachandran Vasudevan, Etemad Ali, Heidari Farzad, Ghodsian Nooshin, Bin Ismail Norzian, Ismail Patimah
机构信息
Genetic Research Group, Department of Biomedical Science, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, 43400 Serdang, Selangor, Malaysia.
Institute of Gerontology, Universiti Putra Malaysia, 43400 Serdang, Selangor, Malaysia.
出版信息
J Diabetes Res. 2015;2015:289846. doi: 10.1155/2015/289846. Epub 2015 Sep 14.
BACKGROUND
Type 2 diabetes mellitus (T2DM) is a complex polygenic disorder characterized by impaired insulin resistance, insulin secretion, and dysregulation of lipid and protein metabolism with environmental and genetic factors. ATP-binding cassette transporter A1 (ABCA1) gene polymorphisms are reported as the one of the genetic risk factors for T2DM in various populations with conflicting results. This study was conducted based on PCR-HRM to determine the frequency of ABCA1 gene by rs2230806 (R219K), rs1800977 (C69T), and rs9282541 (R230C) polymorphisms Malaysian subjects.
METHODS
A total of 164 T2DM and 165 controls were recruited and their genotypes for ABCA1 gene polymorphisms were determined based on the real time high resolution melting analysis.
RESULTS
There was a significant difference between the subjects in terms of age, BMI, FPG, HbA1c, HDL, LDL, and TG (P < 0.05). There was a significant association between HOM of R219K (P = 0.005), among Malaysian subjects; moreover, allele frequency revealed the significant difference in A allele of R219K (P = 0.003). But, there was no significant difference in genotypic and allelic frequencies of C69T and R230C polymorphism.
CONCLUSION
R219K polymorphism of ABCA1 gene can be considered as a genetic risk factor for T2DM subjects among Malaysians.
背景
2型糖尿病（T2DM）是一种复杂的多基因疾病，其特征为胰岛素抵抗、胰岛素分泌受损以及脂质和蛋白质代谢失调，同时受环境和遗传因素影响。据报道，ATP结合盒转运体A1（ABCA1）基因多态性是不同人群中T2DM的遗传风险因素之一，但结果存在冲突。本研究基于聚合酶链反应-高分辨率熔解曲线分析（PCR-HRM），以确定马来西亚受试者中ABCA1基因rs2230806（R219K）、rs1800977（C69T）和rs9282541（R230C）多态性的频率。
方法
共招募了164名T2DM患者和165名对照，基于实时高分辨率熔解分析确定他们ABCA1基因多态性的基因型。
结果
受试者在年龄、体重指数、空腹血糖、糖化血红蛋白、高密度脂蛋白、低密度脂蛋白和甘油三酯方面存在显著差异（P < 0.05）。在马来西亚受试者中，R219K的纯合子之间存在显著关联（P = 0.005）；此外，等位基因频率显示R219K的A等位基因存在显著差异（P = 0.003）。但是，C69T和R230C多态性的基因型和等位基因频率没有显著差异。
结论
ABCA1基因的R219K多态性可被视为马来西亚T2DM患者的遗传风险因素。
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