生物谷報道：來自冰島的科學(xué)家通過研究發(fā)現(xiàn),，房顫的發(fā)病率與人體內(nèi)兩種基因變異有密切的關(guān)系。該研究結(jié)果發(fā)布在最新《自然》雜志在線版。
房顫，全稱心房纖維性顫動，是常見的心律失常之一,。可由多種原因引起,，房顫大多發(fā)生于心臟有顯著病變的人,，常見于風(fēng)濕性心臟病（特別是二尖瓣?。?、冠心病、高血壓性心臟病,、甲亢性心臟病以及慢性縮窄性心包炎,。有時不恰當(dāng)?shù)厥褂媚撤N西藥也可以引起一過性房顫，有些正常人由于過度疲勞也可以出現(xiàn)房顫,， 能導(dǎo)致心悸,、呼吸急促、疲勞以及卒中,。冰島“解碼遺傳學(xué)公司”的研究人員對來自冰島,、瑞典、美國以及中國香港地區(qū)的數(shù)千人的基因進行篩查后,，獲得了上述發(fā)現(xiàn),。科學(xué)家發(fā)現(xiàn)的這兩種基因與心臟發(fā)育早期起重要作用的一種基因位置相近,。
另外一篇在線發(fā)布在7月１日的《自然·遺傳學(xué)》雜志上的報道顯示,，“解碼遺傳學(xué)公司”的研究人員還在人類第１７號染色體上發(fā)現(xiàn)了與前列腺癌發(fā)病相關(guān)的兩種基因，它們在三分之一以上的前列腺癌病例中發(fā)揮了某種作用,。研究還發(fā)現(xiàn),，其中一種基因在提高人患前列腺癌風(fēng)險的同時也降低了患Ⅱ型糖尿病的風(fēng)險。
原始出處:
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: [email protected]) or K.S. (Email: [email protected]).
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.
