Abstract |
With an Italian case series of 81 Italian patients and 130 controls, we analysed associations between myasthenia gravis (MG) and genetic polymorphisms in the MHC class II/III region. Increases in the frequency of the TNF-B*1, C4A*Q0, C4B*1, DRB1*03 supratype, which is likely part of the 8.1 ancestral haplotype, were maximal in females with early onset (EO) MG vs. controls [p<0.05, relative risk (RR)=9.9]. These patients showed neither a significantly high frequency of thymic hyperplasia, nor high levels of serum anti-acethylcholine receptor antibodies. The DRB1*03 allele was absent in patients with thymoma; however, in comparison with controls, occurrence of this marker was frequent in MG patients (p<0.005; RR=6.2), more frequent in females (p<0.005; RR=7.8) and most frequent in EOMG female patients (p<0.005; RR=15.1). Analysis of the TNF-B*1, C4A*Q0, C4B*1, DRB1*03 supratype and its recombinants showed that the MHC region between C4 and TNF might contain genes that influence susceptibility to MG in females. Polymorphic markers within the supratype, e.g. TNF-B*1 and C4A*Q0, might contribute to pathogenetically significant abnormalities in immune responses in a subset of female MG patients. The combined effect of other intervening genes cannot be excluded.
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Authors | D Franciotta, M Cuccia, E Dondi, G Piccolo, V Cosi |
Journal | Journal of the neurological sciences
(J Neurol Sci)
Vol. 190
Issue 1-2
Pg. 11-6
(Sep 15 2001)
ISSN: 0022-510X [Print] Netherlands |
PMID | 11574100
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Genetic Markers
- Lymphotoxin-alpha
- Complement C4a
- Complement C4b
- endodeoxyribonuclease NcoI
- Deoxyribonucleases, Type II Site-Specific
- Complement Factor B
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Topics |
- Adult
- Aged
- Chromosome Mapping
- Complement C4a
(genetics)
- Complement C4b
(genetics)
- Complement Factor B
(genetics)
- DNA Mutational Analysis
- Deoxyribonucleases, Type II Site-Specific
(genetics)
- Female
- Gene Deletion
- Gene Frequency
- Genes, MHC Class II
(immunology)
- Genetic Markers
(physiology)
- Genetic Predisposition to Disease
(genetics)
- Genetic Testing
- Genotype
- Humans
- Italy
- Lymphotoxin-alpha
(genetics)
- Male
- Middle Aged
- Myasthenia Gravis
(blood, genetics, immunology)
- Polymorphism, Genetic
(genetics)
- Sex Characteristics
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