Genetic Association of Complement Component 2 Polymorphism with Systemic Lupus Erythematosus

    July 2015 in “ Tissue Antigens
    Chien‐Jen Chen, Li-Jen Tsai, K.‐R. Lee, Yi‐Ming Chen, W.‐T. Hung, Demeng Chen
    Studysummary In this study, the AA genotype of C2 polymorphism was more frequently observed in Chinese patients with systemic lupus erythematosus than controls, indicating it may be a risk factor for the disease.
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    The study investigated the association of complement component 2 (C2) polymorphism with systemic lupus erythematosus (SLE) in a Chinese population. Researchers genotyped the single-nucleotide polymorphism (rs2844455, G/A SNP) in 95 SLE patients and 95 matched normal controls. They found that the AA genotype was more frequent in SLE patients (22.1%) compared to controls (9.5%), and the A allele was linked to higher occurrences of hair loss, photosensitivity, and anti-cardiolipin antibodies. Conversely, the G allele was associated with lower frequencies of these symptoms. The study concluded that the A allele is a risk factor for SLE, while the G allele may offer protection against certain clinical manifestations of the disease.
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