Chen Lin Y, Goh June M, Wong Raymond C, Hsu Li-Fern, Foo David, Benditt David G, Ling Lieng H, Heng Chew K
The Department of Medicine, Cardiovascular Division (Cardiac Arrhythmia Centre), University of Minnesota, Minneapolis, Minnesota, USA; Department of Medicine, Cardiovascular Division, National University of Singapore, Singapore.
Department of Paediatrics, National University of Singapore, Singapore.
Heart Asia. 2010 Nov 8;2(1):126-8. doi: 10.1136/ha.2010.002832. eCollection 2010.
To determine the extent to which genetic variation in the potassium channel gene KCNQ1 causes atrial fibrillation (AF).
Case-control study.
National University Hospital, Singapore.
Han Chinese patients (n=111) with lone AF (onset <60 years and lacking risk factors) and 265 Han Chinese controls.
Blood draw, 12-lead electrocardiogram and transthoracic echocardiogram were performed on patients with AF at enrolment.
DNA sequence variants in the coding region and exon-intron boundaries of KCNQ1 as detected by direct sequencing.
Four previously reported coding variants were identified: I145I, S546S, P448R and G643S. An additional 19 non-coding variants were identified, nine of which are newly reported. None were predicted to create a cryptic splicing site. The allele frequencies of the two non-synonymous variants did not differ significantly in the AF cases compared with 265 Han Chinese controls (P448R: 10.8% in cases vs 8.6% in controls, p=0.41; G643S: 1.4% in cases vs 0.8% in controls, p=0.43).
Comprehensive mutation scanning of KCNQ1 did not identify novel pathogenic mutations or risk-conferring polymorphisms. As in Caucasians, genetic variation in KCNQ1 is not a common cause of AF in Han Chinese. Routine genetic testing of KCNQ1 for AF is, therefore, not warranted.
确定钾通道基因KCNQ1的基因变异导致心房颤动（AF）的程度。
病例对照研究。
新加坡国立大学医院。
汉族孤立性房颤患者（n = 111，发病年龄<60岁且无危险因素）和265名汉族对照者。
房颤患者在入组时进行采血、12导联心电图和经胸超声心动图检查。
通过直接测序检测KCNQ1编码区和外显子-内含子边界的DNA序列变异。
鉴定出4个先前报道的编码变异：I145I、S546S、P448R和G643S。另外鉴定出19个非编码变异，其中9个是新报道的。预计这些变异均不会产生隐蔽剪接位点。与265名汉族对照者相比，这两个非同义变异的等位基因频率在房颤病例中无显著差异（P448R：病例组为10.8%，对照组为8.6%，p = 0.41；G643S：病例组为1.4%，对照组为0.8%，p = 0.43）。
对KCNQ1进行全面的突变扫描未发现新的致病突变或具有风险的多态性。与高加索人一样，KCNQ1的基因变异不是汉族人房颤的常见原因。因此，不建议对房颤患者常规进行KCNQ1基因检测。
