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[Association between Bcl-2 gene polymorphism with systemic lupus erythematosus].
1Department of Rheumatology, Renji Hospital, Shanghai Second Medical University, Shanghai 200001, China.
Zhonghua Yi Xue Za Zhi
|July 23, 2002
Summary
Bcl-2 gene variations are linked to systemic lupus erythematosus (SLE) in the Chinese population. Combined Bcl-2 and IL-10 gene types may synergistically increase SLE risk.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Systemic lupus erythematosus (SLE) is a complex autoimmune disease.
- Genetic factors play a significant role in SLE pathogenesis.
- The role of Bcl-2 gene polymorphism in SLE susceptibility requires further investigation.
Purpose of the Study:
- To investigate the association between Bcl-2 gene polymorphism and SLE in a Chinese cohort.
- To explore potential synergistic effects between Bcl-2 and IL-10 genotypes in SLE risk.
Main Methods:
- Genotyping of Bcl-2 gene microsatellite polymorphism in 232 SLE nuclear families and 106 controls.
- Analysis of allelic distribution and transmission disequilibrium (TDT).
- Assessment of combined effects of Bcl-2 and IL-10 genotypes on SLE susceptibility.
Main Results:
- Significant differences in Bcl-2 allele and genotype frequencies between SLE patients and controls (P=0.001, P=0.0029).
- Preferential transmission of the Bcl-2-195 bp allele to affected offspring (P=0.0051).
- Increased SLE risk observed in individuals with combined Bcl-2-195 bp and IL-10G138 bp alleles (OR=3.00).
Conclusions:
- Bcl-2 gene polymorphism is associated with SLE susceptibility in the Chinese population.
- Bcl-2 gene may be directly involved or in linkage disequilibrium with SLE susceptibility loci.
- A synergistic effect between IL-10 and Bcl-2 genotypes may contribute to SLE development.