0000000000281994

AUTHOR

Shu-chen Li

0000-0001-8409-5390

showing 2 related works from this author

Genome-wide significant association of ANKRD55 rs6859219 and multiple sclerosis risk.

2013

Multiple sclerosis (MS) is a genetically complex disease that shares a substantial proportion of risk loci with other autoimmune diseases.1 Along these lines, ANKRD55 , originally implicated in rheumatoid arthritis, was recently reported as a potential novel MS risk gene (rs6859219, p=1.9×10−7).2 Here, we comprehensively validated this effect in independent datasets comprising 8846 newly genotyped subjects from Germany and France as well as 5003 subjects from two genome-wide association studies (GWAS). Upon meta-analysis of all available data (19 686 subjects), ANKRD55 rs6859219 now shows compelling evidence for association with MS at genome-wide significance (OR=1.19, p=3.1×10−11). Our stu…

RFXANKAdultMalemedicine.medical_specialtyMultiple SclerosisLocus (genetics)Genome-wide association studySingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideWhite PeopleMolecular geneticsDatabases GeneticGeneticsmedicineHumansGenetic Predisposition to DiseaseGenetics (clinical)Genetic associationGeneticsMultiple sclerosisMiddle Agedmedicine.diseaseAnkyrin RepeatCase-Control StudiesAnkyrin repeatFemaleCarrier ProteinsGenome-Wide Association StudyJournal of medical genetics
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Closing the case ofAPOEin multiple sclerosis: no association with disease risk in over 29 000 subjects: Figure 1

2012

Background Single nucleotide polymorphisms (SNPs) rs429358 (e4) and rs7412 (e2), both invoking changes in the amino-acid sequence of the apolipoprotein E (APOE) gene, have previously been tested for association with multiple sclerosis (MS) risk. However, none of these studies was sufficiently powered to detect modest effect sizes at acceptable type-I error rates. As both SNPs are only imperfectly captured on commonly used microarray genotyping platforms, their evaluation in the context of genome-wide association studies has been hindered until recently. Methods We genotyped 12 740 subjects hitherto not studied for their APOE status, imputed raw genotype data from 8739 subjects from five ind…

GeneticsApolipoprotein E0303 health sciencesCandidate genebusiness.industrySingle-nucleotide polymorphismContext (language use)03 medical and health sciences0302 clinical medicineMeta-analysisImmunologyGenotypeGeneticsMedicinebusinessGenotyping030217 neurology & neurosurgeryGenetics (clinical)030304 developmental biologyGenetic associationJournal of Medical Genetics
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