Multiple Sclerosis. CS295 Final Presentation Yongxing Guo Dec. 18, 2007. Outlines. Introduction to Multiple Sclerosis (MS) Genomewide Association Study of MS IL2RA & IL7RA and MS risk Comments. What’s Multiple Sclerosis (MS). First described by Charcot in 1868.
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CS295 Final Presentation
Dec. 18, 2007
The human leukocyte antigen system (HLA) is the name of the human major histocompatibility complex (MHC). This group of genes resides on chromosome 6, and encodes cell-surface antigen-presenting proteins and many other genes. The major HLA antigens are essential elements in immune function
MAF: Minor Allele Frequency
HW: Hardy Weinberg Equilibrium
ME: Mendelian Errors
WTCCC: Wellcome Trust Case Control Consortium
NIMH: National Institute of Mental Health
IMSGC: International Multiple Sclerosis Genetics Consortium
P values (shown as –log10 values) for results of transmission disequilibrium testing are plotted across the genome. The classic HLA-DR risk locus on chromosome 6p21 stands out with strong statistical significance (P<1×10−81).
Red: The expected null distribution
Gray: P values for all 334,923 SNPs
Black: The observed distributionafter exclusion of the SNPs
across the extended HLA region