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The GG rs292001 genotype prevails in seronegative for ANA and anti-dsDNA antibodies patients with lupus nephritis

Maria Atanasova Radanova, Kamelia Bratoeva, Neshe Nazifova-Tasinova, Miglena Todorova, Vasil Vasilev, Diana Ivanova

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.

Keywords

rs292001, ANA, anti-dsDNA Abs, C1q, Lupus nephritis

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DOI: http://dx.doi.org/10.14748/ssm.v48i3.1727

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About The Authors

Maria Atanasova Radanova
Medical University of Varna, Department of Biochemistry, Molecular Medicine and Nutrigenomics
Bulgaria

Kamelia Bratoeva
Department of Physiology and Pathophysiology, Medical University of Varna

Neshe Nazifova-Tasinova
Medical University of Varna, Department of Biochemistry, Molecular Medicine and Nutrigenomics

Miglena Todorova
Medical University of Varna, Department of Biochemistry, Molecular Medicine and Nutrigenomics

Vasil Vasilev
Clinics of Nephrology, University Hospital - `Tzaritza Ioanna - ISUL`, Medical University - Sofia

Diana Ivanova
Medical University of Varna, Department of Biochemistry, Molecular Medicine and Nutrigenomics

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