Kurnaz-Gomleksiz Ozlem, Kucukhuseyin Ozlem, Ozkok Elif, Bugra Zehra, Ozturk Oguz, Yilmaz-Aydogan Hulya
Department of Molecular Medicine, Institute for Experimental Medicine, Istanbul University, Turkey.
Department of Neuroscience, Institute for Experimental Medicine, Istanbul University, Turkey.
Adv Clin Exp Med. 2018 Mar;27(3):321-326. doi: 10.17219/acem/68395.
The OLR1 gene has been identified as a candidate gene for coronary artery disease (CAD). Six single-nucleotide polymorphisms (SNPs) of the OLR1 gene located within intron 4 (IVS4-27G>C, IVS4-73C>T, IVS4-14A>G), intron 5 (IVS5-70A>G, IVS5-27G>T) and 3'UTR (188C>T) comprise a linkage disequilibrium (LD) block, which is strongly associated with the elevated risk of CAD.
We aimed to investigate the effects of the OLR1 IVS4-14A>G and -73C>T SNPs on metabolic parameters in Turkish CAD patients, and the linkage between these 2 genetic variants.
The present study was carried out in 97 CAD patients and 78 healthy individuals. The OLR1 IVS4 genotypings were performed by polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) method.
Serum high-density lipoprotein (HDL) cholesterol levels and body mass index (BMI) were higher in control subjects with IVS4-73CC genotype than in T allele carriers (CT+TT) (respectively, p = 0.002 and p = 0.024), while BMI values were lower in patients with CC genotype (p = 0.046). Patients with IVS4-14G allele (AG+GG) had a statistically higher low-density lipoprotein (LDL) cholesterol level (p = 0.027) than patients with -14AA genotype. Also the systolic blood pressure (SBP) levels were statistically higher in IVS4- 73C allele carriers (CT+CC) than in non-carriers (TT) (p = 0.045). A strong linkage between IVS4-14A>G and -73C>T SNPs of the OLR1 gene was detected in patients (D > 0.76).
Our results indicated that the intron 4-14A>G and -73C>T SNPs of the OLR1 gene can be inherited together. The present data also suggests that the OLR1 gene may contribute to the development of hypercholesterolemia in patients with CAD.
OLR1基因已被确定为冠状动脉疾病(CAD)的候选基因。位于第4内含子(IVS4-27G>C、IVS4-73C>T、IVS4-14A>G)、第5内含子(IVS5-70A>G、IVS5-27G>T)和3'非翻译区(188C>T)的OLR1基因的6个单核苷酸多态性(SNP)构成一个连锁不平衡(LD)块,与CAD风险升高密切相关。
我们旨在研究OLR1基因IVS4-14A>G和-73C>T单核苷酸多态性对土耳其CAD患者代谢参数的影响,以及这两种基因变异之间的连锁关系。
本研究纳入97例CAD患者和78例健康个体。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对OLR1基因IVS4进行基因分型。
IVS4-73CC基因型的对照组血清高密度脂蛋白(HDL)胆固醇水平和体重指数(BMI)高于T等位基因携带者(CT+TT)(分别为p = 0.002和p = 0.024),而CC基因型患者的BMI值较低(p = 0.046)。IVS4-14G等位基因(AG+GG)的患者低密度脂蛋白(LDL)胆固醇水平在统计学上高于-14AA基因型患者(p = 0.027)。此外,IVS4-73C等位基因携带者(CT+CC)的收缩压(SBP)水平在统计学上高于非携带者(TT)(p = 0.045)。在患者中检测到OLR1基因IVS4-14A>G和-73C>T单核苷酸多态性之间存在强连锁关系(D>0.76)。
我们的结果表明,OLR1基因第4内含子-14A>G和-73C>T单核苷酸多态性可能共同遗传。目前的数据还表明,OLR1基因可能在CAD患者高胆固醇血症的发生中起作用。