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Variability in the CIITA gene interacts with HLA in multiple sclerosis.
A Gyllenberg1, F Piehl1, L Alfredsson2
1Department of Clinical Neuroscience, Neuroimmunology Unit, Karolinska Institutet, Stockholm, Sweden.
Genes and Immunity
|January 17, 2014
Summary
Variations in the CIITA gene influence multiple sclerosis (MS) risk, particularly when interacting with human leukocyte antigen (HLA) types like HLA-DRB1*15:01. This interaction highlights HLA
Area of Science:
- Immunogenetics
- Neuroimmunology
- Genetic Epidemiology
Background:
- Human leukocyte antigen (HLA) genes are key genetic factors influencing multiple sclerosis (MS) susceptibility.
- Specific HLA alleles, such as HLA-DRB1*15:01 (risk) and HLA-A*02 (protective), play significant roles in MS.
- The CIITA gene, essential for HLA class II expression, has been linked to autoimmune diseases including MS.
Purpose of the Study:
- To investigate the association between the CIITA gene and MS risk.
- To examine potential interactions between CIITA and HLA alleles in MS.
- To clarify the role of CIITA genetic variations in MS pathogenesis.
Main Methods:
- Association analyses were conducted using CIITA in a cohort of 2000 MS cases and up to 6900 controls.
- Interaction analyses were performed between CIITA single-nucleotide polymorphism (SNP) rs4774 and HLA alleles.
- The independence of these associations from the nearby CLEC16A gene was assessed.
Main Results:
- The CIITA SNP rs4774 showed a significant association with MS risk in individuals carrying the HLA-DRB1*15 allele (OR: 1.21) and the HLA-A*02 allele (OR: 1.33).
- These associations were independent of the MS susceptibility gene CLEC16A.
- A significant interaction was confirmed between rs4774 and HLA-DRB1*15:01, indicating an elevated MS risk in individuals with both risk alleles.
Conclusions:
- Genetic variations in the CIITA gene contribute to MS risk.
- The impact of CIITA on MS risk is modulated by specific MS-associated HLA haplotypes.
- These findings reinforce the critical role of HLA in the genetic architecture of MS.
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