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遗传性血管迷走性晕厥的证据:一项双胞胎-家庭研究。

Evidence for genetic factors in vasovagal syncope: a twin-family study.

机构信息

Epilepsy Research Centre, The University of Melbourne, Austin Health, Heidelberg, Victoria, Australia.

出版信息

Neurology. 2012 Aug 7;79(6):561-5. doi: 10.1212/WNL.0b013e3182635789.

Abstract

OBJECTIVE

Vasovagal syncope (VVS) is the most frequent type of syncope and a common differential diagnosis of epilepsy. The role of genetic factors in VVS is debated. We performed a twin-family study to clarify this question and to analyze the putative mode of inheritance.

METHODS

Fifty-one same-sex twin pairs where at least 1 had syncope were ascertained. The twins were interviewed via telephone using a standardized questionnaire. Available medical records were obtained. Information on the affected status of first- and second-degree relatives was acquired.

RESULTS

There was a trend toward higher casewise concordance in monozygous (MZ, 0.75) than dizygous (DZ, 0.50) twins for any syncope (p = 0.06). Significant and strong effects on concordance between MZ and DZ twins were found for fainting at least twice unrelated to external circumstances (0.71 vs 0.27, p = 0.018) and for syncope associated with typical vasovagal triggers (0.62 vs 0.00, p < 0.001). Twelve of 19 concordant MZ twin pairs reported sparse or no other affected family members whereas in the other 7 pairs multiple close relatives were affected.

CONCLUSIONS

The twin analysis provides strong evidence for the relevance of genetic factors in VVS. Analysis of the families suggests that complex inheritance (multiple genes ± environmental factors) is usual, with rarer families possibly segregating a major autosomal dominant gene.

摘要

目的

血管迷走性晕厥(VVS)是最常见的晕厥类型,也是癫痫的常见鉴别诊断。遗传因素在 VVS 中的作用存在争议。我们进行了一项双胞胎-家庭研究,以阐明这个问题,并分析可能的遗传模式。

方法

确定了 51 对至少有 1 名晕厥的同性别双胞胎。通过电话使用标准化问卷对双胞胎进行访谈。获取了可用的医疗记录。获取了一级和二级亲属的患病情况信息。

结果

对于任何晕厥,同卵(MZ,0.75)双胞胎比异卵(DZ,0.50)双胞胎的病例一致性呈上升趋势(p = 0.06)。对于与外部环境无关的晕厥至少两次(0.71 与 0.27,p = 0.018)和与典型血管迷走性触发相关的晕厥(0.62 与 0.00,p < 0.001),MZ 和 DZ 双胞胎之间的一致性存在显著且强烈的影响。19 对一致的 MZ 双胞胎中有 12 对报告稀疏或没有其他受影响的家庭成员,而在其他 7 对中,多个近亲受影响。

结论

双胞胎分析为 VVS 中遗传因素的相关性提供了强有力的证据。对家庭的分析表明,复杂的遗传(多个基因±环境因素)很常见,罕见的家庭可能会分离出一个主要的常染色体显性基因。

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