HMB441 Lecture 8.docx

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University of Toronto St. George
Human Biology
Maria Papaconstantinou

-Autoimmune diseases -Highly heritable -etiology is not simplemultigenic and there are several environmental factors -most research is focusing on genetic factors because envir. is hard to research (e.g. imagine tracking a persons total diet over 15 years) -Rheumatoid Arthritis -immune system targets lining of joints (synovial) and eats it up, then moves onto the cartilage which causes bone to rub on bone -RA is prevalent (1% population) -RA is highly heritable (80%) -disease aggregates in families -some of the genes are shared between different autoimmune diseases -some people get benign symptoms and others get severe ones (e.g. goes on to perhaps affect other organs) -Positional cloning works for single gene diseases -Candidate gene approach -cell chat -linkage verses association -limitations to linkagerequirement for multicase families, limited resolution -association -before, robots would not analyze base pairs but now can analyze thousands a second -SNP genotypinghighly metaphorical to automation -to try and find markers for autoimmune disease we must collect controls and people affected and compare to find markers for it -moved from knowing one gene for RA, to 25 known genes now -many of the genes encode proteins involved in cell signalinggood news because these kind are easy to treat -sharing overlap between the diseases -PTPN22 genefirst seen in
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