Department of Biology, Science and Research Branch, Islamic Azad University, Tehran, Islamic Republic of Iran.
Mol Cell Biochem. 2011 Apr;350(1-2):113-8. doi: 10.1007/s11010-010-0687-z. Epub 2010 Dec 14.
The K121Q polymorphism of the ectoenzyme nucleotide pyrophosphate phosphodiesterase 1 (ENPP1) gene has been variably associated with insulin resistance and type 2 diabetes (T2D) in several populations. However, this association has not been studied in Iranian subjects and we hypothesized that the K121Q variant might be associated with T2D and related metabolic traits in this population. The K121Q genotypes were determined by PCR-restriction fragment length polymorphism in 377 normoglycemic controls and 155 T2D patients. T2D patients had significantly higher values for systolic and diastolic blood pressure, BMI, glucose, cholesterol, triglyceride, LDL, apoB, insulin, and HOMA-IR, and lower levels of HDL than the normoglycemic subjects. The frequency of the Q allele did not differ between T2D and normoglycemic subjects (OR 0.96, 95% CI 0.90-2.00, P = 0.70). The Q allele frequency was 16.5% in T2D and 15.2% in normoglycemic subjects. The ENPP1 genotype (KQ + QQ) was not associated with the systolic and diastolic blood pressure, glucose, triglyceride, cholesterol, LDL-C and HDL-C, apo B, BMI, HOMA-IR, and insulin levels in both normoglycemic and T2D groups. Our results suggest that the ENPP1 121Q allele might not be associated with T2D and related metabolic traits among Iranian subjects.
K121Q 多态性的外核苷酸焦磷酸磷酸二酯酶 1（ENPP1）基因已在几个不同的人群中与胰岛素抵抗和 2 型糖尿病（T2D）相关联。然而，这种关联尚未在伊朗人群中进行研究，我们假设 K121Q 变体可能与该人群中的 T2D 及相关代谢特征有关。在 377 名血糖正常对照者和 155 例 T2D 患者中，通过 PCR-限制性片段长度多态性确定了 K121Q 基因型。T2D 患者的收缩压和舒张压、BMI、血糖、胆固醇、甘油三酯、LDL、载脂蛋白 B、胰岛素和 HOMA-IR 明显较高，而高密度脂蛋白水平较低。T2D 与血糖正常组之间的 Q 等位基因频率无差异（OR 0.96，95%CI 0.90-2.00，P=0.70）。T2D 组的 Q 等位基因频率为 16.5%，血糖正常组为 15.2%。在血糖正常和 T2D 组中，ENPP1 基因型（KQ+QQ）与收缩压和舒张压、血糖、甘油三酯、胆固醇、LDL-C 和 HDL-C、载脂蛋白 B、BMI、HOMA-IR 和胰岛素水平无关。我们的结果表明，伊朗人群中 ENPP1 121Q 等位基因可能与 T2D 及相关代谢特征无关。
