Promise and pitfalls of the Immunochip
Open accessAbstract
Genomewide association studies (GWAS) have proven a powerful hypothesis-free method to identify common disease-associated variants. Even quite large GWAS, however, have only at best identified moderate proportions of the genetic variants contributing to disease heritability. To provide cost-effective genotyping of common and rare variants to map the remaining heritability and to fine-map established loci, the Immunochip Consortium has developed a 200,000 SNP chip that has been produced in very large numbers for a fraction of the cost of GWAS chips. This chip provides a powerful tool for immunogenetics gene mapping.
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A targeted ImmunoChip study in 29,300 multiple sclerosis cases and 50,794 unrelated healthy individuals identified 48 new susceptibility variants, bringing the total number of MS risk variants to 110 at 103 discrete loci outside the MHC.
“A further study, this time on a targeted array (the ImmunoChip44) in 29 300 MS cases and 50 794 unrelated healthy individuals, identified 48 new susceptibility variants, bringing the total number of MS risk variants to 110 at 103 discrete loci outside the MHC.45”
From Genome‐wide association studies of multiple sclerosis (2018) · cites this paper as [44]
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- Authors
- Cortes, A., & Brown, M. A.
- Affiliations
- The University of Queensland (AU)
- Corresponding author
- Brown, Matthew A
- ORCID
- Brown, Matthew A
- Venue
- Arthritis Research & Therapy
- Published
- 2010
- Volume
- 13
- Issue
- 1
- Pages
- 101
- ISSN
- 1478-6354 (ISSN-L)
- PMC
- PMC3157635
- OpenAlex
- W2131249054
- Cited by
- 479
- References
- 9
- Citations by year
- 2026: 3 · 2025: 11 · 2024: 10 · 2023: 11 · 2022: 21 · 2021: 25 · 2020: 23 · 2019: 30 · 2018: 32 · 2017: 42 · 2016: 47 · 2015: 57 · 2014: 58 · 2013: 59 · 2012: 37
- FWCI
- 19.63
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Arthritis Research & Therapy (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Genomics and Chromatin Dynamics
- Keywords
- immunochip, SNP genotyping array, immunogenetics, fine mapping, disease heritability, autoimmune disease genetics, cost-effective genotyping
- MeSH terms
- Chromosome Mapping, Humans, Oligonucleotide Array Sequence Analysis, Polymorphism, Single Nucleotide, Genome-Wide Association Study
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