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首页> 外文期刊>Mayo Clinic Proceedings >Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.
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Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.

机译：心脏钾通道变异的种族差异：对心脏猝死的遗传易感性和先天性长QT综合征的基因检测的影响。

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OBJECTIVE: To determine the spectrum, frequency, and ethnic-specificity of channel variants in the potassium channel genes implicated in congenital long QT syndrome (LQTS) among healthy subjects. SUBJECTS AND METHODS: Genomic DNA from 744 apparently healthy individuals-305 black, 187 white, 134 Asian, and 118 Hispanic--was subject to a comprehensive mutational analysis of the 4 LQTS-causing potassium channel genes: KCNQ1 (LQT1), KCNH2 (LQT2), KCNE1 (LQT5), and KCNE2 (LQT6). RESULTS: Overall, 49 distinct amino acid-altering variants (36 novel) were identified: KCNQ1 (n = 16), KCNH2 (n = 25),KCNE1 (n = 5), and KCNE2 (n = 3). More than half of these variants (26/49) were found exclusively in black subjects. The known K897T-HERG and the G38S-min K common polymorphisms were identified in all 4 ethnic groups. Excluding these 2 common polymorphisms, 25% of black subjects had at least 1 nonsynonymous potassium channel variant compared with 14% of white subjects (P < .01). CONCLUSIONS: To our knowledge, this study represents the first comprehensive determination of the frequency and spectrum of cardiac channel variants found among healthy subjects from 4 major ethnic groups. Defining the population burden of genetic variants in these critical cardiac ion channels is crucial for proper interpretation of genetic test results of individuals at risk for LQTS. This compendium provides a resource for epidemiological and functional investigation of variant effects on the repolarization properties of cardiac tissues, including susceptibility to lethal cardiac arrhythmias.
机译：目的：确定健康受试者中与先天性长QT综合征（LQTS）有关的钾通道基因的通道变异的频谱，频率和种族特异性。研究对象和方法：对来自744名显然健康的个体的基因组DNA（305名黑人，187名白人，134名亚裔和118名西班牙裔）进行了全面的突变分析，分析了4种导致钾通道的LQTS基因：KCNQ1（LQT1），KCNH2（ LQT2），KCNE1（LQT5）和KCNE2（LQT6）。结果：总体上，确定了49个不同的氨基酸改变变体（36个新颖）：KCNQ1（n = 16），KCNH2（n = 25），KCNE1（n = 5）和KCNE2（n = 3）。这些变体的一半以上（26/49）仅在黑人受试者中发现。在所有四个族裔群体中均发现了已知的K897T-HERG和G38S-min K常见多态性。除了这2个常见的多态性外，25％的黑人受试者至少有1个非同义钾通道变异，而14％的白人受试者（P <.01）。结论：据我们所知，该研究代表了对来自四个主要种族健康人群的心脏通道变异的频率和频谱的首次综合测定。定义这些关键心脏离子通道中遗传变异的种群负担，对于正确解释处于LQTS风险中的个体的基因检测结果至关重要。该简编为流行病学和功能研究提供了资源，可用于研究对心脏组织复极化特性的各种影响，包括对致命性心律失常的敏感性。

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