Study Report - GWAS of multiple sclerosis (HGVST503)
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Explore Study in Browser| Identifier | HGVST503 | ||||||||||||||||||||
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| Study name | GWAS of multiple sclerosis | ||||||||||||||||||||
| Total p-values imported | 2 | ||||||||||||||||||||
| Phenotype(s) tested | Multiple sclerosis |
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| Study design | Case and control with replication | ||||||||||||||||||||
| Genotype platforms |
Illumina 297,343 | ||||||||||||||||||||
| Abstract | Genetic risk for multiple sclerosis (MS) is thought to involve both common and rare risk alleles. Recent GWAS and subsequent meta-analysis have established the critical role of the HLA locus and identified new common variants associated to MS. These variants have small odds ratios (ORs) and explain only a fraction of the genetic risk. To expose potentially rare, high-impact alleles, we conducted a GWAS of 68 distantly related cases and 136 controls from a high-risk internal isolate of Finland with increased prevalence and familial occurrence of MS. The top 27 loci with p < 10(-4) were tested in 711 cases and 1029 controls from Finland, and the top two findings were validated in 3859 cases and 9110 controls from more heterogeneous populations. SNP (rs744166) within the STAT3 gene was associated to MS (p = 2.75 x 10(-10), OR 0.87, confidence interval 0.83-0.91). The protective haplotype for MS in STAT3 is a risk allele for Crohn disease, implying that STAT3 represents a shared risk locus for at least two autoimmune diseases. This study also demonstrates the potential of special isolated populations in search for variants contributing to complex traits. | ||||||||||||||||||||
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| Related links |
NHGRI GWAS catalog study annotation for HGVST503 |
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| Background | Not supplied | ||||||||||||||||||||
| Objectives | Not supplied | ||||||||||||||||||||
| Key results | Not supplied | ||||||||||||||||||||
| Conclusions | Not supplied | ||||||||||||||||||||
| Reason for study size | Not supplied | ||||||||||||||||||||
| Study power | Not supplied | ||||||||||||||||||||
| Sources of bias | Not supplied | ||||||||||||||||||||
| Limitations | Not supplied | ||||||||||||||||||||
| Acknowledgements | Not supplied | ||||||||||||||||||||
| Related citations |
Jakkula E, Leppä V, Sulonen AM et al.
Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene. American journal of human genetics 2010;86(2):285-91
Hindorff LA, Sethupathy P, Junkins HA et al.
Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. Proceedings of the National Academy of Sciences U S A. 2009 May 27 |
