Mohammadzadeh Ghorban, Ghaffari Mohammad-Ali, Bazyar Mohammad, Kheirollah Alireza
Hyperlipidemia Research Center, Department of Clinical Biochemistry, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Cellular and Molecular Research Center, Department of Clinical Biochemistry, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Adv Biomed Res. 2016 Feb 15;5:27. doi: 10.4103/2277-9175.176366. eCollection 2016.
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.
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.
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.
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.
肝脂肪酶（HL）基因变异是冠状动脉疾病（CAD）的潜在候选因素，尤其在不同人群的2型糖尿病（T2DM）中。我们评估了伊朗2型糖尿病患者中HL（LIPC）基因-514C/T和-250G/A多态性与CAD风险的关联。
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例首次接受冠状动脉造影确诊为CAD的患者作为CAD病例。采用聚合酶链反应（PCR）-限制性片段长度多态性技术研究LIPC基因启动子中-514C/T和-250G/A多态性的基因分型。
CAD病例中-250G/A的基因型分布（73.7%、20.5%和5.8%）以及-514C/T的基因型分布（62.2%、32.7%和5.1%）与对照组中-250G/A的基因型分布（60.8%、37.4%和1.8%）以及-514C/T的基因型分布（51.2%、48.2%和0.6%）有显著差异。CAD病例的A等位基因频率低于对照组（0.131对0.196，P = 0.028）。CAD病例中-250（GG + GA）基因型和A等位基因存在的优势比分别为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，特别是LIPC双突变体（-250 A/-514 T）单倍型与CAD的存在之间存在显著关联。
我们的研究结果表明，LIPC基因的-250 G/A多态性而非-514 C/T多态性与CAD风险增加的关联更强，尤其是在患有T2DM的女性中。
