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Circulation Research ( IF 20.1 ) Pub Date : 2017-08-18 , DOI: 10.1161/res.0000000000000173
Ruth Williams

### Veerman et al determine the likely effect of a Brugada syndrome risk allele. Brugada syndrome is characterized by abnormal electrical signals in the heart and a heightened risk of sudden death. A genome-wide association study (GWAS) has identified a Brugada-linked single nucleotide polymorphism (SNP) at the genetic locus 6q22.31. This SNP lies close to the gene for transcription factor HEY2; however, whether HEY2 contributes to Brugada syndrome is unclear. Veerman and colleagues examined gene expression data from 190 human left ventricle samples and found that, of 8 genes in the 6q22.31 region, only HEY2 showed significant association—increased expression—with the Brugada risk allele. Further, genome-wide coexpression analyses showed that, of 15 617 genes examined, the expression of KCNIP2 , which encodes an ion …

中文翻译:

在这个问题上

Veerman等人确定了Brugada综合征风险等位基因的可能作用。Brugada综合征的特征是心脏中的异常电信号和突然死亡的风险增加。全基因组关联研究(GWAS)已确定在遗传基因座6q22.31处存在Brugada连锁的单核苷酸多态性(SNP)。该SNP位于转录因子HEY2的基因附近。但是,尚不清楚HEY2是否会导致Brugada综合征。Veerman及其同事检查了190个人类左心室样本的基因表达数据,发现在6q22.31区域中的8个基因中,只有HEY2与Brugada风险等位基因具有显着的关联-表达增加。此外,全基因组共表达分析表明,在检查的15617个基因中,KCNIP2的表达编码一个离子……
更新日期:2017-08-31
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