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IL-6 and TGF-β gene polymorphisms, their serum levels, as well as HLA profile, in patients with systemic lupus erythematosus

1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11

  1. Department of Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland. paradowska_aga@interia.pl
  2. Department of Computer Science and Statistics, Poznan University of Medical Sciences, Poznan, Poland.
  3. Department of Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland.
  4. Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland.
  5. Department of Connective Tissue Diseases, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland.
  6. Department of Connective Tissue Diseases, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland.
  7. Department of Molecular Biology, National Institute of Geriatrics, Rheumatology and Rehabilitation, Warsaw, Poland.
  8. Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan; and Mossakowski Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
  9. Department of Rheumatology and Internal Diseases, Poznan University of Medical Science, Poznan, Poland.
  10. Department of Rheumatology and Internal Diseases, Poznan University of Medical Science, Poznan, Poland.
  11. Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland.

CER11521 Submission on line
Full Papers

Rheumatology Article
Rheumatology Article

 

Abstract

OBJECTIVES:
The aim of the study was to explore whether TGF-β and IL-6 gene polymorphisms may be associated with SLE and assess the frequency of HLA-DRB1 alleles in Polish systemic lupus erythematosus (SLE) patients.
METHODS:
216 SLE patients and 552 healthy individuals were examined for TGF-β rs1800469 and rs1800470 by TaqMan SNP genotyping assay and for and IL-6(rs2069827 and rs1800795 using the PCR– RFLP method.
RESULTS:
An increased frequency of TT genotype and T allele of the TGF β -509 C/T was found in SLE patients (p=0.02). The TGF-β 869 C allele was more frequent in SLE patients. The genotype-phenotype analysis showed association between the TGF β -509 C/T and mean value of CRP, ESR, haemoglobin, APTT, Pt and INR (p=0.05, p=0.03, p<0.001, p=0.03, p=0.03 and p=0.05, respectively) as well as anti-SSA and anti-Sm presence (p=0.04 and p=0.03, respectively); the TGF- β 869 T/C and mean value of APTT and INR (p=0.01 and p=0.05, respectively); the IL-6 -174 G/C and SLICC (p=0.05), anti-SSA (p=0.05) and anti-SSB (p=0.05). A higher TGF-β and IL-6 serum level were found in SLE patients compared to controls (both p<0.0001). In SLE patients with the TGF-β -509 TT genotype have shown positive association with the TGF-β serum levels. Polish SLE patients have strong positive association with HLA-DRB1*52.1, and negative with the HLA-DRB1*07:01 allele. HLA-DRB1*52.1 was also associated with higher TGF-β serum levels in the Polish population.
CONCLUSIONS:
Our results suggested that the TGF β -509 C/T variant may be considered as a genetic marker for SLE in the Polish population.

PMID: 30943147 [PubMed]

Received: 15/07/2018 - Accepted : 04/02/2019 - In Press: 18/03/2019