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Open AccessArticle

Interferons (IFN-A/-B/-G) Genetic Variants in Patients with Mixed Connective Tissue Disease (MCTD)

1
Department of Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw 02-637, Poland
2
Department of Connective Tissue Diseases, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw 02-637, Poland
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2019, 8(12), 2046; https://doi.org/10.3390/jcm8122046
Received: 22 October 2019 / Revised: 6 November 2019 / Accepted: 20 November 2019 / Published: 21 November 2019
(This article belongs to the Section Molecular Diagnostics)
Mixed connective tissue disease (MCTD) is a rare complex autoimmune disease in which autoantigens are recognized by endosomal TLRs. Their activation induces a higher secretion of the type I interferons, IFN-γ and the up-regulation of the INF-inducible genes. The present study aimed to investigate whether SNPs that are located in the IFN-A, IFN-B, and IFN-G genes are associated with MCTD. 145 MCTD patients and 281 healthy subjects were examined for IFN-A, IFN-B, and IFN-G genetic variants by TaqMan SNP genotyping assay. ELISA determined IFN-α/-β/-γ serum levels. Among the seven tested SNPs, four polymorphisms: IFN-A rs10757212, IFN-A rs3758236, IFN-G rs2069705, IFN-G rs2069718, as well as INF-G rs1861493A/rs2069705A/rs2069718G haplotype were significantly associated with a predisposition for MCTD. Raynaud’s phenomenon, erosive arthritis, swollen hands and fingers, and sclerodactyly were significantly more frequently observed in MCTD patients with IFN-G rs2069718 G allele than in patients with IFN-G rs2069718 A allele. We also found that anti-U1-A autoantibodies most frequently occurred in MCTD patients with rs2069718 GA genotype, while the IFN-G rs2069705 AG and rs2069718 GA genotypes might be a marker of anti-Ro60 presence in MCTD patients. Our results indicate that IFN-G genetic variants may be potential genetic biomarkers for MCTD susceptibility and severity. View Full-Text
Keywords: MCTD; genetics; IFN; pathogenesis MCTD; genetics; IFN; pathogenesis
MDPI and ACS Style

Paradowska-Gorycka, A.; Wajda, A.; Stypinska, B.; Walczuk, E.; Walczyk, M.; Felis-Giemza, A.; Poluch-Lewandowska, A.; Olesińska, M. Interferons (IFN-A/-B/-G) Genetic Variants in Patients with Mixed Connective Tissue Disease (MCTD). J. Clin. Med. 2019, 8, 2046.

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