Study
Low frequency and rare coding variation contributes to multiple sclerosis risk
Study ID | Alternative Stable ID | Type |
---|---|---|
EGAS00001003195 | Other |
Study Description
Multiple sclerosis is a common, complex neurological disease, where almost 20% of risk heritability can be attributed to common genetic variants, including >230 identified by genome-wide association studies. Multiple strands of evidence suggest that the majority of the remaining heritability is also due to the additive effects of individual variants, rather than epistatic interactions between these variants, or mutations exclusive to individual families. Here, we show in 68,379 cases and controls that as much as 5% of this heritability is explained by low-frequency variation in gene coding sequence. We identify four novel genes driving MS risk independently of common variant signals, which highlight a key role for regulatory T cell homeostasis and regulation, IFNγ biology and NFκB signaling in MS pathogenesis.
Study Datasets 6 datasets.
Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data
Dataset ID | Description | Technology | Samples |
---|---|---|---|
EGAD00010002019 |
Cases and controls from UK and Australia
|
Illumina | 26067 |
EGAD00010002020 |
Finnish cases and controls
|
Illumina | 2257 |
EGAD00010002021 |
Greek cases and controls
|
Illumina | 195 |
EGAD00010002022 |
Belgian cases and controls
|
Illumina | 896 |
EGAD00010002023 |
French cases and controls
|
Illumina | 624 |
EGAD00010002024 |
Cases and controls from USA
|
Illumina | 13632 |
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