Iwanicki Tomasz, Iwanicka Joanna, Balcerzyk-Matić Anna, Nowak Tomasz, Mizia-Stec Katarzyna, Bańka Paweł, Filipecki Artur, Krauze Jolanta, Jarosz Alicja, Górczyńska-Kosiorz Sylwia, Ochalska-Tyka Anna, Żak Iwona, Niemiec Paweł
Department of Biochemistry and Medical Genetics, School of Health Sciences in Katowice, Medical University of Silesia, Medyków Street 18, 40-752 Katowice, Poland.
First Department of Cardiology, School of Medicine in Katowice, Medical University of Silesia, 47 Ziołowa St., 40-635 Katowice, Poland.
J Clin Med. 2022 Aug 3;11(15):4532. doi: 10.3390/jcm11154532.
Background: The present study aimed to determine whether the polymorphisms of the 11q23.3 locus affect the risk and mortality of coronary artery disease in 5-year and 10-year observations. Methods: The study group consisted of 519 subjects: 276 patients with CAD and 243 blood donors as controls. The genotyping of polymorphisms (rs10750097, rs3741298, and rs1729410) was performed using the TaqMan-PCR method. Survival was defined as the period from the angiographic confirmation of CAD to cardiovascular death, and the endpoint was defined as death from cardiovascular causes. Results: The G allele of the rs1729410 polymorphism increased the risk of CAD (OR = 1.55, p = 0.04) and showed a synergistic correlation with overweight/obesity (additive synergy index (SI) = 11.01, p < 0.001). The carriers of the GG genotype and over-normative LDL levels increased the risk of CAD by over 12-fold higher than expected (multiplicative synergy index (SIM) = 12.34, p < 0.001). In the case of the rs10750097 variant, an effect on mortality was shown in both 5-year and 10-year periods. Conclusion: The results revealed that the rs1729410 polymorphism increases the risk of CAD in synergy with traditional risk factors, and the rs10750097 polymorphism of the 11q23.3 locus affects the risk of death in patients with CAD.
本研究旨在确定11q23.3位点的多态性在5年和10年观察期内是否会影响冠状动脉疾病的风险和死亡率。方法：研究组由519名受试者组成：276例冠心病患者和243名献血者作为对照。采用TaqMan-PCR方法对多态性（rs10750097、rs3741298和rs1729410）进行基因分型。生存定义为从冠状动脉造影确诊冠心病到心血管死亡的时间段，终点定义为心血管原因导致的死亡。结果：rs1729410多态性的G等位基因增加了冠心病风险（OR = 1.55，p = 0.04），并与超重/肥胖呈协同相关性（相加协同指数（SI） = 11.01，p < 0.001）。GG基因型携带者和低密度脂蛋白水平超过正常范围使冠心病风险比预期高出12倍以上（相乘协同指数（SIM） = 12.34，p < 0.001）。对于rs10750097变异体，在5年和10年观察期内均显示出对死亡率的影响。结论：结果表明，rs1729410多态性与传统危险因素协同增加冠心病风险，11q23.3位点的rs10750097多态性影响冠心病患者的死亡风险。
