Topic: A Genome-wide Association Study for Activated Partial Thromboplastin Time (aPTT) and Prothrombin Time (PT) and Exploration of Biological and Clinical Relevance
活化部分凝血活酶时间和凝血酶原时间的全基因组研究以及有关基因位点的生物学和临床意义的探讨
Speaker: Dr. Weihong Tang (唐卫红)
Time: 2012.7.30 Monday 10:00 a.m
Place: Second floor meeting room, building 7, The Affilated Hospital of Hanzhong Normal University.
报告人介绍:
Dr. Weihong Tang (唐卫红) 从华西医科大学获得预防医学学士学位，北京协和医科大学硕士学位，美国明尼苏达大学流行病学博士学位。现为美国明尼苏达大学流行病学系助理教授。她目前的研究着重于心血管病的遗传流行病学，包括心脏肥大，静脉血栓，凝血因子，和血液生化指标的全基因组研究。她在Nature, American Journal of Human Genetics，Circulation 等杂志已发表40多篇文章。
Abstract: Activated partial thromboplastin time (aPTT) and prothrombin time (PT) are clinical tests commonly used to screen for coagulation factor deficiencies. One genome-wide association study (GWAS) has been reported previously for aPTT and none for PT. We conducted a GWAS and meta-analysis to identify genetic loci for aPTT and PT. The GWAS for aPTT was conducted in 9,240 individuals of European ancestry, and the GWAS for PT in 2,583 participants. Replication was assessed in 1,041 to 3,467 individuals. For aPTT, previously reported associations with KNG1, HRG, F11, F12, and ABO were confirmed. A second independent association in ABO was identified and replicated. Pooling the discovery and replication data yielded two additional loci in F5 and AGBL1. For PT, significant associations were identified and confirmed in F7 and PROCR/EDEM2. Assessment of existing gene expression and coronary artery disease (CAD) databases identified that five of the GWAS loci were associated with altered gene expression and two with CAD.