the brisbane systems genetics study genetical genomics meets complex trait genetics布里斯班系统遗传学研究遗传的基因与复杂的遗传学特征.pdf

The Brisbane Systems Genetics Study: Genetical Genomics Meets Complex Trait Genetics 1,2 2 1,2 2 2 Joseph E. Powell *, Anjali K. Henders , Allan F. McRae , Anthony Caracella , Sara Smith , 2 2 3 2 Margaret J. Wright , John B. Whitfield , Emmanouil T. Dermitzakis , Nicholas G. Martin , Peter M. Visscher1,2,4., Grant W. Montgomery2. 1 University of Queensland Diamantina Institute, University of Queensland, Princess Alexandra Hospital, Brisbane, Queensland, Australia, 2 Queensland Institute of Medical Research, Herston, Brisbane, Australia, 3 Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland, 4 The Queensland Brain Institute, The University of Queensland, Brisbane, Queensland, Australia Abstract There is growing evidence that genetic risk factors for common disease are caused by hereditary changes of gene regulation acting in complex pathways. Clearly understanding the molecular genetic relationships between genetic control of gene expression and its effect on complex diseases is essential. Here we describe the Brisbane Systems Genetics Study (BSGS), a family-based study that will be used to elucidate the genetic factors affecting gene expression and the role of gene regulation in mediating endophenotypes and complex diseases. BSGS comprises of a total of 962 individuals from 314 families, for which we have high-density genotype, gene expression and phenotypic data. Families consist of combinations of both monozygotic and dizygotic twin pairs, their siblings, and, for 72 families, both parents. A signi