Background and aim

Adenosine triphosphate-binding cassette transporter A1 (ABCA1) and hepatic lipase (LIPC) genes both play an important role in lipid metabolism. ABCA1 and LIPC gene polymorphism has been reported with conflicting results as genetic risk factor for T2DM in different populations. Due to lack of conclusive data from India, present study was conducted to assess the association of ABCA1 and LIPC gene polymorphisms with T2DM risk in the North Indian population.

Methods

Two SNPs (G656A and C69T) in ABCA1 gene and one SNP (G-250A) in LIPC gene were genotyped in total of 270 subjects using PCR–RFLP genotyping method.

Results

The polymorphism at position G656A in ABCA1 and at position G-250A in LIPC gene was significantly associated with development of T2DM (p = 0.016, p = 0.001). Significant association could not be observed between C69T variant of ABCA1 gene and T2DM. Regression analysis also showed that ABCA1 variant G656A and LIPC variant G-250A are associated with T2DM risk in adjusted model for clinical/demographic variables (p = 0.000 and p = 0.034). The levels of total Chl and LDL-C were significantly higher in T2DM patients having GA + AA genotype of ABCA1 gene at SNP G656A (p = 0.012 and p = 0.021). However, BMI, HOMA-IR, TG, and insulin levels were significantly higher in T2DM patients having GA + AA genotype of LIPC gene at SNP G-250A (p = 0.011, 0.048, 0.017, 0.045 respectively).

Conclusion

It can be concluded that A allele of ABCA1 variant G656A and LIPC variant G-250A might serve as risk factors in the development of T2DM in the North Indian population.

中文翻译：

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ABCA1（rs2230806 和 rs1800977）和 LIPC（rs2070895）基因的遗传多态性及其与 2 型糖尿病风险的关联：病例对照研究

背景与目标

三磷酸腺苷结合盒转运蛋白 A1 ( ABCA1 ) 和肝脂肪酶 ( LIPC ) 基因都在脂质代谢中起重要作用。据报道，ABCA1和LIPC基因多态性作为不同人群中 T2DM 的遗传危险因素的结果相互矛盾。由于缺乏来自印度的结论性数据，本研究旨在评估ABCA1和LIPC基因多态性与北印度人群中 T2DM 风险的关联。

方法

使用PCR-RFLP基因分型方法对总共270名受试者的ABCA1基因中的两个SNP（G656A和C69T）和LIPC基因中的一个SNP（G-250A）进行基因分型。

结果

ABCA1基因G656A位点和LIPC基因G-250A位点的多态性与T2DM的发生显着相关（p  =0.016，p  =0.001）。在 ABCA1 基因的 C69T 变体与 T2DM 之间未观察到显着关联。回归分析还表明，ABCA1变体 G656A 和LIPC变体 G-250A 在临床/人口统计学变量的调整模型中与 T2DM 风险相关（p  = 0.000 和p  = 0.034）。ABCA1基因GA+AA基因型的T2DM患者的总Chl和LDL-C水平显着高于SNP G656A（p  = 0.012和p = 0.021）。然而，在 SNP G-250A 具有 GA+AA LIPC 基因型的 T2DM 患者中，BMI、HOMA-IR、TG 和胰岛素水平显着升高（分别为p  = 0.011、0.048、0.017、0.045）。

结论

可以得出结论，ABCA1变体 G656A 和LIPC变体 G-250A 的A 等位基因可能是北印度人群 T2DM 发展的危险因素。