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
    TLDR The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
    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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