Genetic variants of DNMT3A and systemic lupus erythematosus susceptibility. Issue 1 (January 2015)

• Record Type: Journal Article
• Authors: Piotrowski, Piotr; Grobelna, Malwina K.; Wudarski, Mariusz; Olesińska, Marzena; Jagodziński, Paweł P.
• Is Part Of: Modern rheumatology. Volume 25:Issue 1(2015)
• Page Start: 96
• Page End: 99
• Publication Date: 2015-01
• Subjects: Rheumatology -- Periodicals; 616.723005
• DOI: 10.3109/14397595.2014.902296
• Languages: English
• ISSNs: 1439-7595

Abstract

<abstract> <title>Abstract</title> <p> <italic>Objectives.</italic> A significant increase in DNA methyltransferase 3A (DNMT3A) transcript levels has recently been demonstrated in peripheral blood mononuclear cells from systemic lupus erythematosus (SLE) patients as compared to healthy individuals.</p> <p> <italic>Methods.</italic> Employing high resolution melting curve analysis (HRM) and PCR-restriction fragment length polymorphism analysis, we assessed the frequency of five single nucleotide polymorphisms (SNPs) of this gene: rs2289195, rs7590760, rs13401241, rs749131 and rs1550117, situated in different linkage disequilibrium blocks of the <italic>DNMT3A</italic> gene in two hundred and fifty seven women with SLE and six hundred and twenty five controls.</p> <p> <italic>Results.</italic> The lowest p values of the trend test were observed for the <italic>DNMT3A</italic> -448A> G (rs1550117) SNP (<italic>p</italic><sub>trend</sub> = 0.0111). We also found that, in a dominant inheritance model, the <italic>DNMT3A</italic> -448A> G SNP may protect from SLE development [odds ratio (OR) = 0.494 (0.294–0.830), <italic>p</italic> = 0.0068, <italic>p</italic><sub>corr</sub> = 0.034]. Furthermore, we observed that the <italic>DNMT3A</italic> -448A > G SNP in dominant inheritance models may protect from immunologic manifestations of SLE [OR = 0.1753 (95% CI = 0.04976–0.6176, <italic>p</italic> = 0.0026, <italic>p</italic><sub>corr</sub> = 0.0468).</p> <p> <italic>Conclusions.</italic> Our study demonstrates that the <italic>DNMT3A</italic> -448A> G SNP might protect from SLE and its immunologic manifestations in a sample from the Polish population.</p> </abstract>