Burke Allen, Creighton Wendy, Mont Erik, Li Ling, Hogan Susan, Kutys Robert, Fowler David, Virmani Renu
Department of Cardiovascular Pathology, Armed Forces Institute of Pathology, Washington, DC, USA.
Circulation. 2005 Aug 9;112(6):798-802. doi: 10.1161/CIRCULATIONAHA.104.482760. Epub 2005 Aug 1.
The Y1102 polymorphism of the cardiac sodium channel (SCN5A) gene has been found in 13% of black Americans. It has been linked to lethal arrhythmias in black families with ventricular tachycardia. The prevalence of the Y1102 polymorphism in a series of sudden death in blacks is unknown.
We investigated the incidence of the Y1102 polymorphism in a series of 289 sudden deaths in blacks by sequencing an amplified segment of DNA that contained the polymorphic site extracted from prospectively sampled frozen splenic tissue. The deaths were classified as noncardiac controls (n=107), cardiac arrhythmias with clear anatomic substrate (n=117), cardiac arrhythmias with no anatomic substrate except mild to moderate cardiac hypertrophy (n=40), and unexplained cardiac arrhythmias (n=25). Cause of death was determined after complete forensic autopsy and postmortem cardiac examination. The overall frequency of the Y1102 polymorphism was 9.0%. The frequency was 5.6% in noncardiac deaths, 4.3% in cardiac deaths with obvious anatomic substrate, 20.0% in arrhythmias with moderate hypertrophy, and 28% in unexplained arrhythmias. Adjusted for age and sex, the relative risk of an unexplained arrhythmic death was 8.4 (95% CI 2.1 to 28.6, P=0.001) with the Y1102 allele compared with noncardiac deaths. The relative risk for cardiac arrhythmias with mild cardiac hypertrophy was 4.9 (95% CI 1.3 to 13.4, P=0.01).
The Y1102 allele is a risk factor in blacks for sudden cardiac death in the absence of obvious morphological findings or mild to moderate cardiomegaly.
心脏钠通道（SCN5A）基因的Y1102多态性在13%的美国黑人中被发现。它与患有室性心动过速的黑人家庭中的致死性心律失常有关。Y1102多态性在一系列黑人猝死中的患病率尚不清楚。
我们通过对一段扩增的DNA片段进行测序来研究Y1102多态性在289例黑人猝死中的发生率，该DNA片段包含从前瞻性采集的冷冻脾组织中提取的多态性位点。这些死亡被分类为非心脏对照（n = 107）、有明确解剖学基础的心律失常（n = 117）、除轻度至中度心脏肥大外无解剖学基础的心律失常（n = 40）以及不明原因的心律失常（n = 25）。在进行完整的法医尸检和死后心脏检查后确定死因。Y1102多态性的总体频率为9.0%。在非心脏死亡中频率为5.6%，在有明显解剖学基础的心脏死亡中为4.3%，在中度肥大的心律失常中为20.0%，在不明原因的心律失常中为28%。校正年龄和性别后，与非心脏死亡相比，携带Y1102等位基因的不明原因心律失常性死亡的相对风险为8.4（95%可信区间2.1至28.6，P = 0.001）。轻度心脏肥大的心律失常的相对风险为4.9（95%可信区间1.3至13.4，P = 0.01）。
在没有明显形态学发现或轻度至中度心脏肥大的情况下，Y1102等位基因是黑人心脏性猝死的一个危险因素。
