Cited by 482Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and AnimalsGenomics and Chromatin Dynamics

Promise and pitfalls of the Immunochip

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Cortes, Adrian, Brown, Matthew A·2010·Arthritis Research & Therapy

Abstract

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
Venue
Arthritis Research & Therapy
Published
2010
Volume
13
Issue
1
Pages
101
ISSN
1478-6354 (ISSN-L)
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
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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