Nature及子刊：与房颤和前列腺癌相关的基因变异
生物谷报道：来自冰岛的科学家通过研究发现，房颤的发病率与人体内两种基因变异有密切的关系。该研究结果发布在最新《自然》杂志在线版。
房颤，全称心房纤维性颤动，是常见的心律失常之一。可由多种原因引起，房颤大多发生于心脏有显著病变的人，常见于风湿性心脏病（特别是二尖瓣病）、冠心病、高血压性心脏病、甲亢性心脏病以及慢性缩窄性心包炎。有时不恰当地使用某种西药也可以引起一过性房颤，有些正常人由于过度疲劳也可以出现房颤， 能导致心悸、呼吸急促、疲劳以及卒中。冰岛“解码遗传学公司”的研究人员对来自冰岛、瑞典、美国以及中国香港地区的数千人的基因进行筛查后，获得了上述发现。科学家发现的这两种基因与心脏发育早期起重要作用的一种基因位置相近。
另外一篇在线发布在7月１日的《自然·遗传学》杂志上的报道显示，“解码遗传学公司”的研究人员还在人类第１７号染色体上发现了与前列腺癌发病相关的两种基因，它们在三分之一以上的前列腺癌病例中发挥了某种作用。研究还发现，其中一种基因在提高人患前列腺癌风险的同时也降低了患Ⅱ型糖尿病的风险。
原始出处:
Nature advance online publication 1 July 2007 | doi:10.1038/nature06007; Received 6 April 2007; Accepted 11 June 2007; Published online 1 July 2007
Variants conferring risk of atrial fibrillation on chromosome 4q25
Daniel F. Gudbjartsson1, David O. Arnar2, Anna Helgadottir1, Solveig Gretarsdottir1, Hilma Holm2, Asgeir Sigurdsson1, Adalbjorg Jonasdottir1, Adam Baker1, Gudmar Thorleifsson1, Kristleifur Kristjansson1, Arnar Palsson1, Thorarinn Blondal1, Patrick Sulem1, Valgerdur M. Backman1, Gudmundur A. Hardarson1, Ebba Palsdottir1, Agnar Helgason1, Runa Sigurjonsdottir2, Jon T. Sverrisson3, Konstantinos Kostulas4, Maggie C. Y. Ng5, Larry Baum5, Wing Yee So5, Ka Sing Wong5, Juliana C. N. Chan5, Karen L. Furie6, Steven M. Greenberg6, Michelle Sale6, Peter Kelly6, Calum A. MacRae7, Eric E. Smith6, Jonathan Rosand6, Jan Hillert4, Ronald C. W. Ma5, Patrick T. Ellinor7, Gudmundur Thorgeirsson2, Jeffrey R. Gulcher1, Augustine Kong1, Unnur Thorsteinsdottir1 & Kari Stefansson1
- deCODE genetics, Sturlugata 8, 101 Reykjavik, Iceland
- Division of Cardiology, Department of Medicine, Landspitali University Hospital, 101 Reykjavik, Iceland
- Department of Medicine, Akureyri Regional Hospital, 600 Akureyri, Iceland
- Department of Neurology, Karolinska Institutet at Karolinska University Hospital, Huddinge S-141 86, Sweden
- Department of Medicine and Therapeutics, Prince of Wales Hospital, Chinese University of Hong Kong, Shatin, Hong Kong
- Department of Neurology,
- Cardiology Division and Cardiovascular Research Center, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA Correspondence to: Daniel F. Gudbjartsson1Kari Stefansson1 Correspondence and requests for materials should be addressed to D.F.G. (Email: daniel.gudbjartsson@decode.is) or K.S. (Email: kstefans@decode.is).
Atrial fibrillation (AF) is the most common sustained cardiac arrhythmia in humans and is characterized by chaotic electrical activity of the atria1. It affects one in ten individuals over the age of 80 years, causes significant morbidity and is an independent predictor of mortality2. Recent studies have provided evidence of a genetic contribution to AF3, 4, 5. Mutations in potassium-channel genes have been associated with familial AF6, 7, 8, 9, 10 but account for only a small fraction of all cases of AF11, 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 heart13, 14, 15.
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