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TAP2 gene polymorphism contributes to genetic susceptibility to multiple sclerosis
H Moins-Teisserenc1, G Semana, M Alizadeh
1Laboratory for Immunology and Histocompatibility, INSERM Unit 396, Saint Louis Hospital, Paris, France.
Human Immunology
|March 1, 1995
Summary
Multiple Sclerosis (MS) susceptibility is linked to a novel TAP2 gene variant (J). This genetic marker, independent of the HLA-DRB1*1501 allele, offers new insights into MS pathogenesis.
Area of Science:
- Immunogenetics
- Neuroimmunology
- Molecular Biology
Background:
- Multiple Sclerosis (MS) is an autoimmune demyelinating disease.
- A known genetic association exists with the HLA-DRB1*1501-DQA1*0102-DQB1*0602 haplotype.
- TAP1 and TAP2 genes, within the MHC class II region, are crucial for antigen presentation.
Purpose of the Study:
- To investigate the association of TAP1 and TAP2 gene variability with MS.
- To identify novel genetic susceptibility markers for MS.
Main Methods:
- Comparison of TAP1 and TAP2 alleles in 116 MS patients and Caucasoid controls.
- Analysis of a newly identified TAP2 dimorphism at codon 386 (I and J variants).
- Assessment of linkage disequilibrium with the HLA-DRB1*1501 allele.
Main Results:
- No significant correlation was found between previously described TAP1/TAP2 alleles and MS.
- An increased frequency of the TAP2 'J' variant was observed in MS patients.
- The TAP2 'J' variant was not in linkage disequilibrium with HLA-DRB1*1501.
Conclusions:
- The TAP2 'J' variant represents a potential independent genetic susceptibility marker for MS.
- This finding contributes to understanding the genetic architecture of MS.
- Further research is warranted to elucidate the functional role of the TAP2 'J' variant in MS.