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Variants conferring risk of atrial fibrillation on chromosome 4q25 (2007)_香港中文大学

香港中文大学 辅仁网/2017-06-27

Variants conferring risk of atrial fibrillation on chromosome 4q25
Publication in refereed journal


香港中文大学研究人员 ( 现职)
马青云教授 (内科及药物治疗学系)
陈重娥教授 (内科及药物治疗学系)
黄家星教授 (内科及药物治疗学系)
包立怡教授 (药剂学院)
伍楚贤教授 (内科及药物治疗学系)


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引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/444WOS source URL

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摘要Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia in humans and is characterized by chaotic electrical activity of the atria(1). It affects one in ten individuals over the age of 80 years, causes significant morbidity and is an independent predictor of mortality(2). Recent studies have provided evidence of a genetic contribution to AF(3-5). Mutations in potassium-channel genes have been associated with familial AF(6-10) but account for only a small fraction of all cases of AF(11,12). We have performed a genome-wide association scan, followed by replication studies in three populations of European descent and a Chinese population from Hong Kong and find a strong association between two sequence variants on chromosome 4q25 and AF. Here we show that about 35% of individuals of European descent have at least one of the variants and that the risk of AF increases by 1.72 and 1.39 per copy. The association with the stronger variant is replicated in the Chinese population, where it is carried by 75% of individuals and the risk of AF is increased by 1.42 per copy. A stronger association was observed in individuals with typical atrial flutter. Both variants are adjacent to PITX2, which is known to have a critical function in left-right asymmetry of the heart(13-15).

着者Gudbjartsson DF, Arnar DO, Helgadottir A, Gretarsdottir S, Holm H, Sigurdsson A, Jonasdottir A, Baker A, Thorleifsson G, Kristjansson K, Palsson A, Blondal T, Sulem P, Backman VM, Hardarson GA, Palsdottir E, Helgason A, Sigurjonsdottir R, Sverrisson JT, Kostulas K, Ng MCY, Baum L, So WY, Wong KS, Chan JCN, Furie KL, Greenberg SM, Sale M, Kelly P, MacRae CA, Smith EE, Rosand J, Hillert J, Ma RCW, Ellinor PT, Thorgeirsson G, Gulcher JR, Kong A, Thorsteinsdottir U, Stefansson K
期刊名称Nature
出版年份2007
月份7
日期19
卷号448
期次7151
出版社NATURE PUBLISHING GROUP
页次353 - 357
国际标準期刊号0028-0836
电子国际标準期刊号1476-4687
语言英式英语

Web of Science 学科类别Multidisciplinary Sciences; MULTIDISCIPLINARY SCIENCES; Science & Technology - Other Topics

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