Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Novel genes for QTc interval. How much heritability is explained, and how much is left to find? | Jamshidi et al. Genome Medicine 2010 2 35 http content 2 5 35 w Genome Medicine REVIEW L_ Novel genes for QTc interval. How much heritability is explained and how much is left to find Yalda Jamshidi 1 2 Ilja M Nolte3 Timothy D Spector2 and Harold Snieder 2 3 Abstract The corrected QT QTc interval is a complex quantitative trait believed to be influenced by several genetic and environmental factors. It is a strong prognostic indicator of cardiovascular mortality in patients with and without cardiac disease. More than 700 mutations have been described in 12 genes LQT1-LQT12 involved in congenital long QT syndrome. However the heritability genetic contribution of QTc interval in the general population cannot be adequately explained by these long QT syndrome genes. In order to further investigate the genetic architecture underlying QTc interval in the general population genome-wide association studies in which up to one million single nucleotide polymorphisms are assayed in thousands of individuals are now being employed and have already led to the discovery of variants in seven novel loci and five loci that are known to cause congenital long or short QT syndrome. Here we show that a combined risk score using 11 of these loci explains about 10 of the heritability of QTc. Additional discovery of both common and rare variants will yield further etiological insight and accelerate clinical applications. The QT interval and the corrected QT interval The QT interval is a reflection of the duration of myocardial depolarization and repolarization. It is defined as the time between the onset of the QRS complex and the Correspondence Yalda Jamshidi Harold Snieder 1Division of Clinical Developmental Sciences St George s University of London London UK 3Unit of Genetic Epidemiology and Bioinformatics Department of Epidemiology University Medical Center Groningen University of Groningen Groningen the Netherlands .
