Department of Genetics, İstanbul University Aziz Sancar Institute of Experimental Medicine, İstanbul, Turkey.
Department of Cardiology, Ufuk University School of Medicine, Ankara, Turkey.
Turk Kardiyol Dern Ars. 2022 Jan;50(1):34-45. doi: 10.5543/tkda.2022.21003.
Intelectin-1 is an anti-inflammatory adipokine encoded by the Intelectin 1 (ITLN1) gene. Genetic variations in the ITLN1 gene affect the risk of coronary artery disease (CAD) and related CAD risk factors. In this study, we aimed to investigate whether the ITLN1 gene Val109Asp polymorphism has an effect on the severity of CAD and serum lipid levels in both men and women.
A total of 493 subjects who underwent coronary angiography (43.5% women, mean age 63.1±9.5 years) were grouped as individuals with critical CAD (≥70% stenosis, n=202), non-critical CAD (31%-69% stenosis, n=90), and non-CAD (control group) (1%-30% stenosis, n=201). Genotyping was performed using LightSNiP assay in Real-Time PCR.
The frequency of the Val allele was significantly different among all the patients with critical CAD (n=41) and non-CAD control (n=51) groups in women (p=0.033) but not in men (n=77 and n=38). Women with the Val allele had a 1.69-fold increased risk for critical CAD (p=0.033). In addition, the presence of Val allele was associated with higher coronary stenosis after adjustment for several confounders only in women with critical CAD (p=0.025). Furthermore, carriers of the Val allele exhibited an increased low-density lipoprotein cholesterol (LDL-C) in men with critical CAD than in those with non-CAD (p<0.05).
These results suggest that the Val allele of the ITLN1 Val109Asp polymorphism is associated with critical CAD and high LDL-C levels in our study population. Further studies are required to elucidate the effect of Val109Asp polymorphism on CAD pathogenesis.
凝集素 1（ITLN1）基因编码的炎症反应抑制因子-1 是一种抗炎脂肪因子。ITLN1 基因的遗传变异会影响冠心病（CAD）的风险及相关 CAD 风险因素。本研究旨在探讨 ITLN1 基因 Val109Asp 多态性是否对男性和女性 CAD 的严重程度和血清脂质水平有影响。
共纳入 493 例行冠状动脉造影术的患者（43.5%为女性，平均年龄 63.1±9.5 岁），根据冠状动脉狭窄程度分为严重 CAD（≥70%狭窄，n=202）、非严重 CAD（31%-69%狭窄，n=90）和非 CAD（对照组）（1%-30%狭窄，n=201）。采用 LightSNiP 检测实时 PCR 法进行基因分型。
在女性严重 CAD（n=41）和非 CAD 对照组（n=51）患者中，Val 等位基因的频率存在显著差异（p=0.033），但在男性患者中无显著差异（n=77 和 n=38）。携带 Val 等位基因的女性发生严重 CAD 的风险增加 1.69 倍（p=0.033）。此外，在校正多个混杂因素后，仅在严重 CAD 的女性患者中，携带 Val 等位基因与冠状动脉狭窄程度增加相关（p=0.025）。此外，与非 CAD 患者相比，携带 Val 等位基因的男性严重 CAD 患者的低密度脂蛋白胆固醇（LDL-C）水平升高（p<0.05）。
本研究结果表明，ITLN1 Val109Asp 多态性的 Val 等位基因与研究人群中的严重 CAD 和 LDL-C 水平升高相关。还需要进一步研究来阐明 Val109Asp 多态性对 CAD 发病机制的影响。
