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.
Group | Phenotype | Population | Cases | Controls | Families | Trios |
---|---|---|---|---|---|---|
Discovery | MS | NULL | 8499 | 8765 | - | 958 |
SNP
Sample
Region | Location | Gene(s) | Marker | Allele | MAF | P Value | Odds Ratio |
---|---|---|---|---|---|---|---|
4q24 | chr4:102467408-103242450 | MANBA | rs228614 | G > A | 0.476 | 3.40e-12C | 1.09D |
11q23.3 | chr11:118606652-118952438 | CXCR5 | rs630923 | C > A | 0.157 | 4.70e-10C | 1.12D |
16p13.3 | chr16:996471-1059435 | SOX8 | rs2744148 | A > G | 0.168 | 1.60e-12C | 1.12D |
17q23.1 | chr17:59412005-59997425 | RPS6KB1 | rs180515 | A > G | 0.355 | 2.30e-13C | 1.09D |
20q13.33 | chr20:63677259-63857674 | ZBTB46 | rs6062314 | T > C | 0.079 | 2.30e-08C | 1.16D |