RGS2基因C1114G多态性与阵发性房颤的相关性

目的分析G蛋白信号转导调节蛋白RGS2基因C1114G单核苷酸多态性与阵发性房颤（PAF）的相关性。方法选取PAF患者115例及健康对照者102例,应用创造酶切位点原理设计引物,采用PCR-RFLP技术检测RGS2基因C1114G等位基因型及等位基因频率分布。结果两组基因型频率均符合Hardy．Weinberg平衡（P〉0．05）。两组间RGS2基因C1114G多态性的基因型频率及等位基因频率比较有统计学差异（P〈0．01）,其中GG基因型及1114G等位基因型频率在PAF患者中显著增高。结论RGS2基因C1114G单核苷酸多态性与PAF相关,1114G等位基因可能是PAF的遗传易感基因。     

Conversion of atrial fibrillation to sinus rhythm and rate control by digoxin in comparison to placebo

AIMS: A randomized, double-blind study with a high dose of digoxinadministered intravenously for conversion of atrial fibrillation(not due to haemodynamic alterations) to sinus rhythm, and forrate control in converters and nonconverters was set up. Outcomemeasures were conversion within 12 h; time to conversion; earlyrate control; and stable slowing within 12 h. METHODS: We studied 40 patients with recent onset (<1 week) atrialfibrillation; controls received saline intravenously, the otherpatients digoxin 1·25 mg. RESULTS: One patient converted before digoxin administration. Conversionoccurred in 9/19 patients on digoxin and in 8/20 on placebo(ns). The mean time to conversion tended to be shorter onlyfor digoxin. Two late conversions on placebo were observed within24 h. Heart rate during atrial fibrillation decreased after30 min for converters and non-converters (P<0·05).For all patients on digoxin, heart rate after 30 min was lowercompared to baseline (P<0·002) and to placebo (P<0·02).Persistent, stable slowing occurred only in 3/10 non-converterson digoxin (P<0·05), and two patients developed bradyarrhythmias.QTc was shortened immediately after conversion in all patients.Converters had baseline characteristics similar to those ofnon-converters. CONCLUSIONS: Intravenous digoxin offers no substantial advantages over placeboin recent onset atrial fibrillation with respect to conversion,and provides weak rate control.     

Precision Medicine Approaches to Vascular Disease: JACC Focus Seminar 2/5

In this second of a 5-part Focus Seminar series, we focus on precision medicine in the context of vascular disease. The most common vascular disease worldwide is atherosclerosis, which is the primary cause of coronary artery disease, peripheral vascular disease, and a large proportion of strokes and other disorders. Atherosclerosis is a complex genetic disease that likely involves many hundreds to thousands of single nucleotide polymorphisms, each with a relatively modest effect for causing disease. Conversely, although less prevalent, there are many vascular disorders that typically involve only a single genetic change, but these changes can often have a profound effect that is sufficient to cause disease. These are termed “Mendelian vascular diseases,” which include Marfan and Loeys-Dietz syndromes. Given the very different genetic basis of atherosclerosis versus Mendelian vascular diseases, this article was divided into 2 parts to cover the most promising precision medicine approaches for these disease types.