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Updated: Jul 3, 2026

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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians
J P Rubio1, J Stankovich, J Field
1The Howard Florey Institute, Melbourne, Victoria, Australia. justin.rubio@florey.edu.au
Genes and Immunity
|July 25, 2008
Summary
This study replicated genetic associations for multiple sclerosis (MS) susceptibility. Four non-human leukocyte antigen (HLA) genes, including KIAA0350, were significantly linked to MS risk in Australian patients.
Area of Science:
- Genetics
- Immunology
- Neuroscience
Background:
- Genome-wide association studies (GWAS) have identified numerous genes associated with multiple sclerosis (MS) susceptibility.
- Replication studies are crucial for validating these genetic findings in independent populations.
Purpose of the Study:
- To replicate 17 risk-associated single nucleotide polymorphisms (SNPs) for MS identified by the International Multiple Sclerosis Genetics Consortium (IMSGC) in an Australian cohort.
- To investigate potential interactions between replicated SNPs and clinical factors.
Main Methods:
- A replication study was conducted using 1134 Australian MS cases and 1265 controls.
- 16 SNPs passed quality control and were analyzed for association with MS susceptibility.
- A Bayesian approach was used to assess the evidence for association with six top IMSGC loci.
Main Results:
- Four non-human leukocyte antigen (HLA) genes showed significant association with MS susceptibility: KIAA0350 (rs6498169), IL2RA (rs2104286), RPL5 (rs6604026), and CD58 (rs12044852).
- No association was found for IL7R (rs6897932).
- No interactions were detected between the replicated SNPs and HLA-DRB1*15, gender, disease course, progression, or age-at-onset.
Conclusions:
- The findings support the involvement of four non-HLA genes in the pathogenesis of MS.
- Replication of these genetic associations strengthens the evidence for KIAA0350, reaching genome-wide significance for its role in MS risk.
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