Single nucleotide polymorphism map of five long-QT genes

被引：38

作者：

Aydin, A

Bähring, S

Dahm, S

Guenther, UP

Uhlmann, R

Busjahn, A

Luft, FC

机构：

[1] Franz Vollhard Clin, D-13125 Berlin, Germany

[2] Max Delbruck Ctr Mol Med, Fac Med, Charite, HELIOS Klinikum, Berlin, Germany

[3] HealthTwiSt GmbH, Berlin, Germany

来源：

JOURNAL OF MOLECULAR MEDICINE-JMM | 2005年 / 83卷 / 02期

关键词：

single nucleotide polymorphism; QT interval; sudden cardiac death;

D O I：

10.1007/s00109-004-0595-3

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We screened a white population for single nucleotide polymorphisms (SNPs) in five long QT syndrome genes, namely, KCNQ1 (LQT1), HERG (LQT2), SCN5A (LQT3), KCNE1 (LQT5), and KCNE2 (LQT6). We found 35 SNPs, 10 of which have not been previously described. Ten SNPs were in KCNE1, six in HERG, eight in KCNQ1, four in KCNE2, and seven in SCN5A. Four SNPs were associated with QTc interval in our 141 subjects, one in KCNE1, one in KCNE2, and two in SCN5A. Two of these SNPs have not been described. We conclude that these five long QT syndrome genes contain common variants, some of which are associated with QTc interval in normal persons. We suggest that analysis of these SNPs in a much larger cohort would enable establishment of common haplotypes that are associated with QTc. These haplotypes could facilitate prediction of arrhythmia risk in the general population.

引用

页码：159 / 165

页数：7

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