Department of Biochemistry and Medical Genetics, School of Health Sciences in Katowice, Medical University of Silesia, Medykow 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.
Int J Mol Sci. 2024 Feb 14;25(4):2274. doi: 10.3390/ijms25042274.
The aim of this study was to investigate whether the polymorphisms of the gene affect the risk of occurrence and mortality due to CAD. The study group included 231 patients diagnosed with CAD and 240 control blood donors. The genotyping of specified polymorphisms, i.e., rs1994016, rs3825807, and rs7173743, was performed using the TaqMan-PCR. We found that the C allele carriers of the rs1994016 and A allele carriers of the rs3825807 polymorphisms increased the risk of CAD, respectively: OR = 1.72, = 0.036; OR = 1.64, = 0.04. Moreover, we studied the biological interactions of specified variants, i.e., rs3825807, rs1994016, and rs7173743, and previously approved risk factors of CAD. We demonstrated here that selected polymorphisms of increased the risk of CAD altogether with abnormalities of total cholesterol and LDL concentrations in serum. Although survival analyses did not reveal statistical significance, we observed a trend for the AA genotype of the rs3825807 , which may predispose to death due to CAD in a 5-year follow-up. In conclusion, the polymorphisms investigated in this study may increase the risk of occurrence and/or death due to CAD in the Polish population.
本研究旨在探讨基因多态性是否影响 CAD 的发生风险和死亡率。研究组包括 231 名确诊为 CAD 的患者和 240 名对照献血者。采用 TaqMan-PCR 对特定多态性（rs1994016、rs3825807 和 rs7173743）进行基因分型。我们发现 rs1994016 的 C 等位基因携带者和 rs3825807 的 A 等位基因携带者分别增加了 CAD 的发病风险：OR=1.72， =0.036；OR=1.64， =0.04。此外，我们还研究了特定变体（rs3825807、rs1994016 和 rs7173743）与先前已批准的 CAD 危险因素之间的生物学相互作用。我们在此表明，所选的 基因多态性与血清总胆固醇和 LDL 浓度异常共同增加了 CAD 的发病风险。尽管生存分析未显示出统计学意义，但我们观察到 rs3825807 的 AA 基因型存在与 CAD 相关的死亡趋势，在 5 年随访中可能导致死亡。总之，本研究中研究的 基因多态性可能会增加波兰人群发生和/或死于 CAD 的风险。
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