El-Sayed Kefaya, Youssef Amany R, Hay Nehal M Abdel, Osman Adel M
Department of Clinical Pathology, Faculty of Medicine, Mansoura University, Mansoura, 35516, Egypt.
Faculty of Medicine, Mansoura University, Mansoura, Egypt.
Egypt Heart J. 2024 Jan 2;76(1):1. doi: 10.1186/s43044-023-00430-w.
Coronary artery disease (CAD) is the main cause of death in Egypt. Many LDL-R gene locus single nucleotide polymorphisms (SNP) are found to be associated with the risk of CAD. This research aimed to assess the allelic and genotypic frequencies of rs1122608 SNP and their association with the extent of vessel affection and lipid profile in a population of Egyptians.100 CAD patients and 100 healthy controls of Egyptians were included. PCR-RFLP was used to genotype rs1122608 SNPs.
Significantly higher proportion of 'T' allele among patient (risk allele). This association is of low strength (ϕ lies between 0.1 and 0.3). A participant with 'T' allele has 1.95 times higher odds to exhibit CAD versus a participant with 'G' allele. Significantly higher proportion of 'T/T' genotype among cases versus control (risk genotype). This association is of low strength (Cramer's V lies between 0.1 and 0.3). A participant with 'T/T' genotype has 4.5 times higher odds to exhibit CAD versus a participant with 'G/G'. Gensini score showed no significant association with rs1122608 genotypes (p = 0.863).
The mutant GT and TT genotypes and minor T allele of rs1122608 were positively correlated with CAD and considered as independent risk factors for CAD.
冠状动脉疾病(CAD)是埃及的主要死因。许多低密度脂蛋白受体(LDL-R)基因位点单核苷酸多态性(SNP)被发现与CAD风险相关。本研究旨在评估埃及人群中rs1122608 SNP的等位基因和基因型频率,以及它们与血管病变程度和血脂谱的关联。纳入了100例埃及CAD患者和100例健康对照。采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对rs1122608 SNP进行基因分型。
患者中“T”等位基因(风险等位基因)的比例显著更高。这种关联强度较低(ϕ值在0.1至0.3之间)。携带“T”等位基因的参与者患CAD的几率是携带“G”等位基因参与者的1.95倍。病例组中“T/T”基因型的比例显著高于对照组(风险基因型)。这种关联强度较低(克莱默V系数在0.1至0.3之间)。携带“T/T”基因型的参与者患CAD的几率是携带“G/G”基因型参与者的4.5倍。Gensini评分与rs1122608基因型无显著关联(p = 0.863)。
rs1122608的突变GT和TT基因型以及次要T等位基因与CAD呈正相关,被认为是CAD的独立危险因素。