肌细胞增强因子(MEF)2A外显子11缺失与西西里家族早发性冠状动脉疾病基因

Giuseppe Maiolino, Stefania Colonna, Mario Zanchetta, Luigi Pedon, Teresa Maria Seccia, Maurizio Cesari, Saula Vigili de Kreutzenberg, Angelo Avogaro, Gian Paolo Rossi
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引用次数: 11

摘要

目的:我们研究了心肌细胞增强因子(MEF)2A外显子11缺失的患病率,这是一种假定的冠状动脉疾病(CAD)易感基因,在接受冠状动脉造影的患者中。方法和结果:总共有1079名在GENICA研究中连续接受冠状动脉造影的患者进行基因分型,301名低危受试者作为对照。GENICA研究队列中发现1例早发性三支血管CAD患者携带MEF2A缺失,对照组中未发现。结论:在一组因疑似CAD而接受冠状动脉造影的患者中,MEF2A外显子11缺失发生率为0.09%。
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Exon 11 deletion in the myocyte enhancer factor (MEF)2A and early onset coronary artery disease gene in a Sicilian family.

Aims: We investigated the prevalence of the myocyte enhancer factor (MEF)2A exon 11 deletion, a putative coronary artery disease (CAD) susceptibility gene, in patients referred for coronary angiography.

Methods and results: In total, 1079 consecutive patients referred for coronary angiography in the GENICA Study were genotyped and 301 low-risk subjects were used as controls. One patient with early onset three vessels CAD, carrying the MEF2A deletion was found in the GENICA Study cohort and none in the control group.

Conclusion: In a cohort of patients undergoing coronary angiography for suspected CAD the MEF2A exon 11 deletion occurred in 0.09%.

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