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báo cáo khoa học: "Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data"

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data | Wang et al. Genome Medicine 2011 3 3 http genomemedicine.eom content 3 1 3 Genome Medicine RESEARCH Open Access Modeling the cumulative genetic risk for multiple sclerosis from genome-wide association data I I A of i i1 r lcirciL D r ir iTic1 DHilirk I rio hrior2 3 n niol Dollofior1 D-SI li l A Ho R lzlzor3 4 I I kHr r r c5 JUdUHc H Vvdny utlck Pdppds Philip L De Jdyer Ddniel Pelletier Pdul IW de Bdkker Ludwiy f dppos Chris H Polmdn6 Austrdlidn dnd New Zedldnd Multiple Sclerosis Genetics Consortium ANZyene 7 Lori B Chibnik2 8 9 1.10 1 1.10 Ddvid A Hdfler Pdul M Mdtthews Stephen L Hduser Seryio E Bdrdnzini Jorye R Oksenbery Abstract Background Multiple sclerosis MS is the most common cduse of chronic neuroloyic disdbility beyinniny in edrly to middle ddult life. Results from recent yenome-wide dssocidtion studies GWAS hdve substdntidlly lenythened the list of disedse loci dnd provide convinciny evidence supportiny d multifdctoridl dnd polyyenic model of inheritdnce. Nevertheless the knowledye of MS yenetics remdins incomplete with mdny risk dlleles still to be revedled. Methods We used d discovery GWAS ddtdset 8 844 sdmples 2 124 cdses dnd 6 720 controls dnd d multi-step loyistic reyression protocol to identify novel yenetic dssocidtions. The emeryiny yenetic profile included 350 independent mdrkers dnd wds used to cdlculdte dnd estimdte the cumuldtive yenetic risk in dn independent vdliddtion ddtdset 3 606 sdmples . Andlysis of covdridnce ANCOVA wds implemented to compdre clinicdl chdrdcteristics of individudls with vdrious deyrees of yenetic risk. Gene ontoloyy dnd pdthwdy enrichment dndlysis wds done usiny the DAVID functiondl dnnotdtion tool the GO Tree Mdchine dnd the Pdthwdy-Express profiliny tool. Results In the discovery ddtdset the medidn cumuldtive yenetic risk P-Hdt wds 0.903 dnd 0.007 in the cdse dnd control yroups respectively toyether with 79.9 cldssificdtion sensitivity dnd 95.8 specificity. The identified profile shows d siynificdnt enrichment of .