Genetic association of complement component 2 polymorphism with systemic lupus erythematosus
H-H Chen1, L-J Tsai2, K-R Lee1
1Institute of Molecular Medicine, National Tsing Hua University, Hsinchu, Taiwan.
Tissue Antigens
|July 16, 2015
Summary
Complement component 2 (C2) gene variants are linked to systemic lupus erythematosus (SLE) in Chinese patients. The A allele is a risk factor, while the G allele may offer protection against SLE development and symptoms.
Area of Science:
- Immunogenetics
- Rheumatology
Background:
- Complement component 2 (C2) plays a role in clearing apoptotic cells.
- C2 dysfunction may contribute to systemic lupus erythematosus (SLE) pathogenesis.
- Investigating C2 gene variants offers insight into SLE genetic susceptibility.
Purpose of the Study:
- To examine the clinical and serological associations of C2 variants in Chinese SLE patients.
- To determine if C2 polymorphism confers genetic susceptibility to SLE.
Main Methods:
- Genotyping of C2 single-nucleotide polymorphism (rs2844455, G/A SNP) using direct sequencing.
- Gene expression analysis via quantitative real-time PCR and reverse transcription PCR.
- Comparison of genotype frequencies and clinical/serological data between 95 SLE patients and 95 controls.
Main Results:
- The AA genotype was significantly more prevalent in SLE patients (22.1%) than controls (9.5%).
- The A allele correlated with hair loss, photosensitivity, and anti-cardiolipin antibodies.
- Lower C2 relative expression levels were observed in patients with the AA genotype compared to the GG genotype.
Conclusions:
- The C2 A allele is a risk factor for SLE in the Chinese population.
- The C2 G allele may act as a protective factor against SLE development.
- C2 variants are associated with specific clinical manifestations and autoantibody profiles in SLE.
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