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Published on: April 19, 2013
The SH2D2A gene and susceptibility to multiple sclerosis
Aslaug R Lorentzen1, Cathrine Smestad, Benedicte A Lie
1Department of Neurology, University of Oslo, Oslo, Norway; Institute of Immunology, Rikshospitalet University Hospital, Oslo, Norway. a.r.lorentzen@medisin.uio.no
Journal of Neuroimmunology
|June 17, 2008
Summary
The SH2D2A gene, encoding TSAd, may increase susceptibility to multiple sclerosis (MS). Genetic variations in SH2D2A were linked to MS risk in Nordic populations, suggesting a potential role in disease development.
Area of Science:
- Genetics
- Immunology
- Neurology
Background:
- Previous research indicated a link between the SH2D2A gene (TSAd) and multiple sclerosis (MS).
- The SH2D2A gene plays a role in immune cell signaling, potentially influencing autoimmune diseases like MS.
Purpose of the Study:
- To investigate the association between specific genetic polymorphisms in the SH2D2A gene and susceptibility to multiple sclerosis (MS).
- To analyze the impact of the SH2D2A promoter GA repeat polymorphism and the rs926103 variant on MS risk in Nordic populations.
Main Methods:
- Genotyping of 2128 Nordic MS patients and 2004 controls for the SH2D2A promoter GA repeat polymorphism.
- Analysis of the rs926103 single nucleotide polymorphism (SNP) associated with a serine to asparagine substitution in TSAd.
- Haplotype and allele frequency analysis to determine statistical association with MS.
Main Results:
- The GA(16)-rs926103()A haplotype showed a significant association with MS in Norwegians (OR 1.4, P=0.04).
- A similar trend was observed in Danish individuals.
- The GA(16) allele demonstrated a combined odds ratio of 1.13 (P=0.05) across Norwegian, Danish, and Swedish sample sets.
Conclusions:
- The SH2D2A gene is implicated as a potential contributor to multiple sclerosis susceptibility.
- Specific genetic variants within the SH2D2A gene may influence an individual's risk of developing MS.
- Further research is warranted to elucidate the functional mechanisms linking SH2D2A to MS pathogenesis.
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