PITX2 基因 rs2200733 多态性与心房颤动风险的关联。
Association Between rs2200733 Polymorphism of PITX2 Gene and the Risk of Atrial Fibrillation.
机构信息
Medical College of Yangzhou University, Yangzhou, China.
Medical College of Yangzhou University, Yangzhou, China; Department of Cardiology, Affiliated Hospital of Yangzhou University, Yangzhou, China.
出版信息
Anatol J Cardiol. 2023 Mar;27(3):160-166. doi: 10.14744/AnatolJCardiol.2022.2276.
BACKGROUND
As observed in recent genetic studies, PITX2 is one of the most popular genes with atrial fibrillation; single nucleotide polymorphism (rs2200733) at chromosome 4q25 (near PITX2) is found to be strongly associated with atrial fibrillation, but it has a difference among Chinese Han population. The basic aim of conducting this study is to find the correlation between PITX2 gene polymorphism and the risk of atrial fibrillation and to identify the possibility for early diagnosis of silent atrial fibrillation and high-risk atrial fibrillation.
METHODS
The study included 98 cases of atrial fibrillation patients and 88 non-atrial fibrillation patients in Affiliated Hospital of Yangzhou University were enrolled in a case-control study. The single nucleotide polymorphism of rs2200733 at 4q25 near PITX2 was genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis.
RESULTS
A total of 98 patients with atrial fibrillation were genotyped, and the following frequencies were included in genotype percentages (44.9%, 50%, and 5.1%) while distribution of significant single nucleotide polymorphism rs2200733 consisted (29.55%, 53.41%, and 17.05%) which showed (χ2 = 9.159, P =.01). There was no significant difference in TC genotype frequency (P =.642), frequency of T allele (χ2 = 7.447, P =.006), and T allele was 1.806 times that of the control group (odds ratio = 1.806, 95% CI = 1.179-2.766, P =.006). According to logistic regression analysis, following results were concluded for TC genotype (odds ratio = 3.128, 95% CI = 1.053-9.287, P =.04), or TT genotype (odds ratio = 5.077, 95% CI = 1.653-15.595, P =.005) increased the risk of atrial fibrillation.
CONCLUSIONS
The genotype and allele frequency distribution of rs2200733 (T/C) near PITX2 is different in the atrial fibrillation group and the control group. The T allele is a risk factor for atrial fibrillation. Compared with the CC genotype, the TT genotype increased the risk of atrial fibrillation.
背景
最近的遗传学研究表明，PITX2 是与心房颤动关系最密切的基因之一；在染色体 4q25 上（靠近 PITX2）发现的单核苷酸多态性（rs2200733）与心房颤动强烈相关，但在中国汉族人群中存在差异。进行这项研究的基本目的是寻找 PITX2 基因多态性与心房颤动风险之间的相关性，并确定早期诊断无症状性心房颤动和高危心房颤动的可能性。
方法
本研究纳入了扬州大学附属医院 98 例心房颤动患者和 88 例非心房颤动患者进行病例对照研究。通过聚合酶链反应-限制性片段长度多态性分析对 PITX2 附近 4q25 上的 rs2200733 单核苷酸多态性进行基因分型。
结果
共对 98 例心房颤动患者进行基因分型，基因型百分比分别为 44.9%、50%和 5.1%，而显著单核苷酸多态性 rs2200733 的分布分别为 29.55%、53.41%和 17.05%（χ2=9.159，P=.01）。TC 基因型频率无显著差异（P=.642），T 等位基因频率（χ2=7.447，P=.006），T 等位基因是对照组的 1.806 倍（比值比=1.806，95%CI=1.179-2.766，P=.006）。根据 logistic 回归分析，TC 基因型（比值比=3.128，95%CI=1.053-9.287，P=.04）或 TT 基因型（比值比=5.077，95%CI=1.653-15.595，P=.005）增加了心房颤动的风险。
结论
PITX2 附近 rs2200733（T/C）的基因型和等位基因频率分布在心房颤动组和对照组之间不同。T 等位基因是心房颤动的危险因素。与 CC 基因型相比，TT 基因型增加了心房颤动的风险。
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