Table 3. The 29 novel associated MS risk genes.
Gene | Variant | Chromosome | Risk allele | RAF | OR OR (95% CI) | P-value |
VCAM1 | rs11581062 | 1 | G | 0.29 | 1.12 (1.10–1.13) | 2.50*10−10 |
No gene | rs12466022 | 2 | C | 0.73 | 1.11 (1.10–1.13) | 6.20*10−10 |
PLEK | rs7595037 | 2 | A | 0.55 | 1.11 (1.10–1.12) | 5.10*10−11 |
MERTK | rs17174870 | 2 | G | 0.75 | 1.11 (1.09–1.13) | 1.30*10−8 |
SP140 | rs10201872 | 2 | A | 0.18 | 1.14 (1.12–1.16) | 1.80*10−10 |
No gene | rs669607 | 3 | C | 0.48 | 1.13 (1.12–1.15) | 1.90*10−15 |
EOMES | rs11129295 | 3 | A | 0.36 | 1.11 (1.09–1.12) | 1.20*10−9 |
CD86 | rs9282641 | 3 | G | 0.91 | 1.21 (1.18–1.24) | 1.00*10−11 |
IL12B | rs2546890 | 5 | A | 0.52 | 1.11 (1.10–1.13) | 1.20*10−11 |
BACH2 | rs12212193 | 6 | G | 0.47 | 1.09 (1.08–1.10) | 3.80*10−8 |
THEMIS | rs802734 | 6 | A | 0.69 | 1.10 (1.09–1.12) | 5.50*10−9 |
MYB | rs11154801 | 6 | A | 0.36 | 1.13 (1.11–1.15) | 1.00*10−13 |
IL22RA2 | rs17066096 | 6 | G | 0.24 | 1.14 (1.12–1.15) | 6.00*10−13 |
TAGAP | rs1738074 | 6 | G | 0.57 | 1.13 (1.12–1.15) | 6.80*10−15 |
ZNF746 | rs354033 | 7 | G | 0.74 | 1.11 (1.10–1.13) | 4.70*10−9 |
MYC | rs4410871 | 8 | G | 0.72 | 1.11 (1.09–1.12) | 7.70*10−9 |
PVT1 | rs2019960 | 8 | G | 0.23 | 1.12 (1.10–1.13) | 5.20*10−9 |
HHEX | rs7923837 | 10 | G | 0.62 | 1.10 (1.08–1.11) | 4.90*10−9 |
CLECL1 | rs10466829 | 12 | A | 0.50 | 1.09 (1.08–1.11) | 1.40*10−8 |
ZFP36L1 | rs4902647 | 14 | G | 0.53 | 1.11 (1.10–1.13) | 9.30*10−12 |
BATF | rs2300603 | 14 | A | 0.74 | 1.11 (1.09–1.12) | 2.00*10−8 |
GALC | rs2119704 | 14 | C | 0.92 | 1.22 (1.19–1.25) | 2.20*10−10 |
MALT1 | rs7238078 | 18 | A | 0.77 | 1.12 (1.10–1.14) | 2.50*10−9 |
TNFSF14 | rs1077667 | 19 | G | 0.79 | 1.16 (1.14–1.18) | 9.40*10−14 |
MPV17L2 | rs874628 | 19 | A | 0.72 | 1.11 (1.09–1.12) | 1.30*10−8 |
DKKL1 | rs2303759 | 19 | C | 0.25 | 1.11 (1.09–1.13) | 5.20*10−9 |
CYP24A1 | rs2248359 | 20 | G | 0.61 | 1.12 (1.10–1.13) | 2.50*10−11 |
MAPK1 | rs2283792 | 22 | C | 0.52 | 1.10 (1.08–1.11) | 4.70*10−9 |
ODF3B | rs140522 | 22 | A | 0.33 | 1.10 (1.09–1.12) | 1.70*10−8 |
RAF: risk allele frequency, OR: odds ratio, 95% CI: 95% confidence interval.
OR and p-value represent the combined discovery and replication study results [9]. Risk allele frequency refers to allele frequency in control population of UK samples.
Reprinted by permission from Macmillan Publishers Ltd: The International Multiple Sclerosis Genetics Consortium and The Wellcome Trust Case Control Consortium. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. 2011, Nature 476: 214–219.