Overview

A candidate variant study to followup, in an independent cohort of 20,138 MS cases and controls, 5 variants that achieved strong support in IMSGC and WTCCC2 studies but failed to reach genome-wide significance. Genotyping was performed using TaqMan, MassARRAY iPlex or Human610-Quad Illumina array resulting after QC in genotype for 8,499 MS cases, 8,765 controls and 958 trios. An association analysis was performed using PLINK. P-Values from the original WTCCC2 and IMSGC studies were combined with those for this study using METAL. All 5 candidate variants reached genome-wide significance in this meta-analysis. 

Study Type
Case-Control Study
Samples
GroupPhenotypePopulationCasesControlsFamiliesTrios
DiscoveryMSNULL84998765-958
Exclusion Criteria

SNP

  • > 95% Genotyping efficiency.
  • HWE P < 0.05 base on Pearson's chi-squared.

Sample

  • Missing genotypes for > 2 SNPs.

Study Association

RegionLocationGene(s)MarkerAlleleMAFP ValueOdds Ratio
4q24chr4:102467408-103242450MANBA  rs228614G > A0.4763.40e-12C1.09D
11q23.3chr11:118606652-118952438CXCR5  rs630923C > A0.1574.70e-10C1.12D
16p13.3chr16:996471-1059435SOX8  rs2744148A > G0.1681.60e-12C1.12D
17q23.1chr17:59412005-59997425RPS6KB1  rs180515A > G0.3552.30e-13C1.09D
20q13.33chr20:63677259-63857674ZBTB46  rs6062314T > C0.0792.30e-08C1.16D

Criteria

GDXHsS00044 meets the following criteria:

Criteria Name
Details
Disease Tags
Study for a Disease 

Publications

PMIDTitleFirst AuthorJournalDisease(s)Date