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11 - February 14, 2013.docx

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University of Toronto St. George

February 14, 2013 Drift and founder effects in Finland – settled and grew quickly in short period of time Decrease frequencies of some diseases because disease wasn’t there initially – occurance of alleles can ebe so low – see occasionally unusual allele frequencies – the whole population in self-isolated communities due to religion, geography, etc. Frequency and size of pathogenic alleles – Across the world’s population, variants that cause MEndelian disease very low – are detected and investigated regularly because of high penetrancy – can lead directly to disease because of the degree of consequence of the mutation – Common disease Alleles – if there is common disease, common variant hypothesis – basis and effect for generating the first HapMap projects and for deriving much of the technology or the genotype platforms used for looking at genetics of particular individuals Appealing to look at common variants – look at a lot of individuals but score alleles that occur at reasonable frequency readily – Common variant = alleles that occur in population of at least 10 percent Alleles had persisted in populations for long time and occur at high frequency – alleles must also convery pathogenicity or risk factor susceptibility – Not all diseases due to common variants – surprising finding Wellcome Trust Case-Control Consortium – looking at components of major genetic components Take 2000 ppl with known type of disease with large genetic contribution to pathogenesis – each also have environmental contributors Not a lot of clinical applications from this study Effect sizes were small – do not explain total genetic contribution for these diseases Crohn’s disease – variety of genes – P value on y axis Chromosomes on the x axis Age-related macular degeneration – CHF and LOC387715 Pathways – many genes contributing – true for macular degeneration Oxidative stress; smoking; complement system genes implicated in macular degeneration Selection within the human genome Human variation – Selection within in human population Lots of selection in genes involving metabolite – differences in individuals and how they metabolize phosphate lipids – suspic
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