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[Association between Bcl-2 gene polymorphism with systemic lupus erythematosus]
1Department of Rhumatology, 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. Specific Bcl-2 and IL-10 gene combinations increase SLE risk, suggesting a synergistic effect in disease development.
Area of Science:
- Genetics
- Immunology
- Rheumatology
Background:
- Systemic lupus erythematosus (SLE) is a complex autoimmune disease with a significant genetic component.
- The role of specific gene polymorphisms 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 Interleukin-10 (IL-10) and Bcl-2 genotypes in SLE pathogenesis.
Main Methods:
- DNA was extracted from peripheral white blood cells of 232 SLE nuclear families and 106 healthy controls.
- Microsatellite analysis was performed to determine the allelic distribution of a Bcl-2 gene polymorphism.
Main Results:
- Significant differences in Bcl-2 allele and genotype frequencies were observed between SLE patients and controls (P = 0.001 and 0.0029).
- The Bcl-2-195 bp allele showed preferential transmission to affected offspring (P = 0.0051).
- Combined genotypes of Bcl-2-195 bp and IL-10G138 bp alleles conferred a significantly higher risk of SLE (OR = 3.00).
Conclusions:
- Bcl-2 gene polymorphism is associated with SLE susceptibility in the Chinese population.
- A synergistic effect between IL-10 and Bcl-2 genotypes may contribute to SLE development.