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Association between two common polymorphisms (single nucleotide polymorphism -250G/A and -514C/T) of the hepatic lipase gene and coronary artery disease in type 2 diabetic patients

机译:肝脂肪酶基因的两种常见多态性(单核苷酸多态性-250G / A和-514C / T)与2型糖尿病患者冠心病的关系

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Background: Variations in the hepatic lipase (HL) gene are the potential candidate for coronary artery disease (CAD) especially in type 2 diabetes mellitus (T2DM) in diverse populations. We assessed the association of -514C/T and -250G/A polymorphisms in HL (LIPC) gene with CAD risk in Iranian population with type 2 diabetes. Materials and methods: We evaluated 322 type 2 diabetic patients, 166 patients with normal angiograms as controls and 156 patients those identified with CAD undergoing their first coronary angiography as CAD cases. Genotyping of -514C/T and -250G/A polymorphisms in the promoter of the LIPC gene were studied by polymerase chain reaction (PCR)-restriction fragment length polymorphism technique. Results: Genotype distributions in CAD cases (73.7%, 20.5%, and 5.8% for ?250G/A) and (62.2%, 32.7%, and 5.1% for -514C/T) were significantly different from those in controls (60.8%, 37.4%, and 1.8% for -250G/A) and (51.2%, 48.2%, and 0.6% for -514C/T). CAD cases had lower A-allele frequency than controls (0.131 vs. 0.196, P = 0.028). The odds ratio for the presence of -250 (GG + GA) genotype and A allele in CAD cases were 2.206 (95% confidence interval [CI] =1.33-3.65, P = 0.002) and 1.609 (95% CI = 1.051 ?2.463, P = 0.029) respectively. Haplotype analysis demonstrated a significant association between especially LIPC double mutant (?250 A/-514 T) haplotype and presence of CAD. Conclusion: Our findings indicated that -250 G/A polymorphism rather than -514 C/T polymorphism of LIPC gene is more associated with the increased risk of CAD particularly in women with T2DM.
机译:背景:肝脂肪酶(HL)基因的变异可能是冠状动脉疾病(CAD)的潜在候选者,尤其是在不同人群中的2型糖尿病(T2DM)中。我们评估了伊朗2型糖尿病人群中HL(LIPC)基因中-514C / T和-250G / A多态性与CAD风险的相关性。材料和方法:我们评估了322例2型糖尿病患者,166例血管造影正常的患者作为对照,以及156例经CAD首次接受冠状动脉造影检查的CAD患者。通过聚合酶链反应(PCR)-限制性片段长度多态性技术研究了LIPC基因启动子中-514C / T和-250G / A基因多态性。结果:CAD病例的基因型分布(≥250G/ A分别为73.7%,20.5%和5.8%)和(-514C / T分别为62.2%,32.7%和5.1%)与对照组(60.8%)相比有显着差异。 -250G / A分别为37.4%和1.8%)和(-514C / T为51.2%,48.2%和0.6%)。 CAD病例的A等位基因频率低于对照组(0.131比0.196,P = 0.028)。在CAD病例中,存在-250(GG + GA)基因型和A等位基因的比值比是2.206(95%置信区间[CI] = 1.33-3.65,P = 0.002)和1.609(95%CI = 1.051 = 2.463) ,P = 0.029)。单倍型分析表明,尤其是LIPC双突变体(?250 A / -514 T)单倍型与CAD的存在之间存在显着关联。结论:我们的发现表明,LIPC基因的-250 G / A多态性而不是-514 C / T多态性与CAD风险增加有关,尤其是在T2DM女性中。

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