Abstract
Rs292001 is single nucleotide polymorphism in non-coding regions of C1QA gene. C1q is subcomponent of the C1 first component of the classical pathway of complement activation. Rs292001 was investigated for association with some conventional immunological markers of lupus nephritis activity in SLE patients – levels of C1q, C3, C4, anti-C1q, anti-nuclear (ANA) and anti-dsDNA autoantibodies. Genomic DNA was isolated from peripheral blood of 18 patients with biopsy-proven lupus nephritis (LN). SNP genotyping for the presence of rs292001 was performed by quantitive real-time PCR method. Presence of complement C1q, C3 and C4 and anti-C1q autoantibodies was screened by ELISA. ANA and anti-dsDNA antibodies were detected by indirect immunofluorescence. We found that GG rs292001 genotype prevailed in seronegative for ANA and anti-dsDNA antibodies LN patients (p=0.008; p<0.012). The AA rs292001 genotype showed a trend towards lower serum C1q levels. These results reaffirm a previously established probable protective role of G allele against the clinical activity of the SLE.
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