1. Burmeister, M. Basic concepts in the study of diseases with complex genetics .
Biological Psychiatry , Volume 45 , Issue 5 , Pages 522 - 532
Most diseases run in families—this is also true of virtually all psychiatric disorders. Twin and adoption studies have shown that most psychiatric disorders have a genetic component, yet very few genetic factors are known, as is true for most disorders with a complex genetic origin. Here I review, for nongeneticists, some of the basic terminology and concepts used when studying complex genetic diseases, with examples from psychiatric genetics. This review is intended to help in the understanding and critical evaluation of reports on genetics of psychiatric illnesses in the literature.
2. "Understanding Schizophrenia" - pamphlet published by NARSAD research (National Alliance for Research on Schizophrenia and Depression) April 2003
http://www.narsad.org/dc/pdf/brochure.schizophrenia.pdf
3. Nangle J-M, Morris D, Gill M. SNPs Explained. Irish Psychiatrist. Apr/May 2004: 5(2): 61-62
4. Hirschhorn J N, Daly M J. Genome-wide association studies for common diseases and complex traits. Nature Reviews Genetics. 6, 95-108 (Feb 2005).
Genetic factors strongly affect susceptibility to common diseases and also influence disease-related quantitative traits. Identifying the relevant genes has been difficult, in part because each causal gene only makes a small contribution to overall heritability. Genetic association studies offer a potentially powerful approach for mapping causal genes with modest effects, but are limited because only a small number of genes can be studied at a time. Genome-wide association studies will soon become possible, and could open new frontiers in our understanding and treatment of disease. However, the execution and analysis of such studies will require great care.
5. Corvin A and M Gill. Lecture notes in psychiatric genetics.
6. Morris D W, Nangle J-M, Kiely B, Corvin A and Michael Gill. The molecular basis of schizophrenia: a complex genetic disorder. Irish Psychiatrist. Aug/Sep 04: 5(4): 134-137
7. Burmeister M, McInnis M G, Zollner S. Psychiatric genetics: progress amid controversy. Nature Reviews Genetics 9, 527-540 (July 2008)
Several psychiatric disorders — such as bipolar disorder, schizophrenia and autism — are highly heritable, yet identifying their genetic basis has been challenging, with most discoveries failing to be replicated. However, inroads have been made by the incorporation of intermediate traits (endophenotypes) and of environmental factors into genetic analyses, and through the identification of rare inherited variants and novel structural mutations. Current efforts aim to increase sample sizes by gathering larger samples for case–control studies or through meta-analyses of such studies. More attention on unique families, rare variants, and on incorporating environment and the emerging knowledge of biological function and pathways into genetic analysis is warranted.
Plans for October 6-10
- Read McCarthy et al. Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nature Reviews: Genetics. 9: 356-369 (May 2008).
- Read Pritchard J K and N Cox. The allelic architechture of human disease genes: common disease - common variant...or not? Hum Mol Gen 11(20): 2417-2423 (2002).
- Read Gilks W. Genetic associations analysis of HOMER2 with schizophrenia. PhD transfer report. Jan. 2008
- Run through HapMap Tutorial (ICG 2008 HapMap Tutorial). http://hapmap.org/tutorials.html.en
- Look for "copy number variant" review papers to be used in several weeks time.
