Sudden unexplained nocturnal death syndrome in Southern China: an epidemiological survey and SCN5A gene screening.
Sudden unexplained nocturnal death syndrome in Southern China: an epidemiological survey and SCN5A gene screening.
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DOI：
10.1097/paf.0b013e3181d03d02
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发表时间：
2011-12
期刊：
影响因子：
--
通讯作者：
Kroboth S
中科院分区：
文献类型：
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作者：
Cheng J;Makielski JC;Yuan P;Shi N;Zhou F;Ye B;Tan BH;Kroboth S
根据2001-2006年中国南方地区975例不明原因夜间猝死综合征（SUNDS）尸检资料，分析了SUNDS的发病机制。对74例SUNDS患者进行了编码电压依赖性心脏钠通道基因SCN 5A的基因筛查。据估计，该地区SUNDS的年发生率为每10万人中有1人。80.6%的死亡发生在21至40岁之间，病例数在30岁时达到高峰。在75.4%有证人在场的案件中，受害者在晚上11点到凌晨4点之间的睡眠中死亡，许多人在死亡前不久出现突然的呼吸窘迫。同期急诊发热病例月分布与SUNDS病例月分布呈正相关（rs = 0.611，P = 0.0025）。在SUNDS和对照组中发现了SCN 5A的4个多态性。与对照组相比，SUNDS组C5457和C3666+69等位基因频率显著增高（P<0.005），5457 CC（P=0.012，OR=2.0，95%CI =1.3-3.2）和3666+ 69 CC（P=0.004，OR=2.1，95%CI =1.3-3.3）基因型显著增高。这是首次在中国汉族人群中进行SUNDS的流行病学调查和SCN 5A基因筛查。SCN 5A基因5457 CC和3666+ 69 CC基因型可能是中国人SUNDS的易感基因型。
Based on autopsy data collected in Southern China from 2001–2006, 975 cases of sudden unexplained nocturnal death syndrome (SUNDS) were surveyed. Genetic screening of SCN5A, the gene encoding the voltage dependent cardiac Na channel, was performed in 74 available SUNDS cases. The annual occurrence rate of SUNDS in the area was estimated to be 1 per 100,000 people. 80.6% of deaths occurred between the ages of 21 to 40 years and the case number peaked at age 30 years. In 75.4% of cases where witnesses were present, victims died in their sleep between 11 PM and 4 AM and many showed abrupt respiratory distress shortly preceding death. The monthly distribution of emergency fever cases in the area during the same period was positively correlated to that of SUNDS cases (rs = 0.611, P = 0.0025). Four polymorphisms in SCN5A were identified in both SUNDS and control groups. Compared with controls, the allele frequency of C5457 and C3666+69 were significant higher in SUNDS (P<0.005) while the genotypes of both 5457CC (P=0.012, OR=2.0, 95% CI=1.3–3.2) and 3666+69CC (P=0.004, OR=2.1, 95% CI=1.3–3.3) in SUNDS cases were significantly higher. This is the first report of an epidemiological survey and SCN5A gene screening in SUNDS in the Han population of China. The genotypes of 5457CC and 3666+69CC in SCN5A gene may be Chinese SUNDS susceptible polymorphisms.