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X-linked TLR7 gene polymorphisms are associated with diverse immunological conditions but not with discoid lupus erythematosus in Polish patients.
Skonieczna, Katarzyna; Wozniacka, Anna; Czajkowski, Rafal; Styczynski, Jan; Krenska, Anna; Robak, Ewa; Gawrych, Mariusz; Kaszewski, Sebastian; Wysocki, Mariusz; Grzybowski, Tomasz.
Afiliação
  • Skonieczna K; Division of Molecular and Forensic Genetics, Department of Forensic Medicine, Faculty of Medicine, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.
  • Wozniacka A; Department of Dermatology and Venereology, Medical University of Lodz, Lodz, Poland.
  • Czajkowski R; Department of Dermatology, Sexually Transmitted Diseases and Immunodermatology, Faculty of Medicine, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.
  • Styczynski J; Department of Pediatrics, Hematology and Oncology, Faculty of Medicine, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.
  • Krenska A; Department of Pediatrics, Hematology and Oncology, Faculty of Medicine, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.
  • Robak E; Department of Dermatology and Venereology, Medical University of Lodz, Lodz, Poland.
  • Gawrych M; Department of Dermatology, Sexually Transmitted Diseases and Immunodermatology, Faculty of Medicine, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.
  • Kaszewski S; Department of Dermatology, Sexually Transmitted Diseases and Immunodermatology, Faculty of Medicine, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.
  • Wysocki M; Department of Pediatrics, Hematology and Oncology, Faculty of Medicine, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.
  • Grzybowski T; Division of Molecular and Forensic Genetics, Department of Forensic Medicine, Faculty of Medicine, Ludwik Rydygier Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University in Torun, Poland.
Postepy Dermatol Alergol ; 35(1): 26-32, 2018 Feb.
Article em En | MEDLINE | ID: mdl-29599669
ABSTRACT

INTRODUCTION:

Toll-like receptor 7 (TLR7) is an important molecule involved in the development of autoimmunity and the response to different pathogens. Several polymorphisms within the TLR7 gene were previously found to be associated with systemic lupus erythematosus (SLE). However, none of those studies investigated the TLR7 promoter flanking variants rs1634318 and rs1616583. TLR7 gene diversity has not been analyzed with respect to discoid lupus erythematosus (DLE) development, while its role in the human immunological response to fungal infection is not fully known.

AIM:

To clarify the potential involvement of two novel single-nucleotide polymorphisms (SNPs) located in the TLR7 gene (rs1634318 and rs1616583) in a variety of immune-related conditions, we studied the variability of these loci in patients from a Polish population with SLE and DLE, as well as in immunocompromised patients who were affected by invasive aspergillosis (IA) and those who were not affected. MATERIAL AND

METHODS:

Real-time polymerase chain reaction was used to genotype SNPs. Statistically significant differences between case and control groups for both allele and genotype frequencies were assessed using the χ2 test with Yates' correction or two-tailed Fisher's exact test. The results were Bonferroni-corrected for multiple comparisons and odds ratios were calculated.

RESULTS:

Two polymorphisms located in TLR7 might be associated with the development of SLE but not DLE within the Polish population. Moreover, variation of the two investigated SNPs was found to be associated with IA in immunocompromised Polish patients.

CONCLUSIONS:

In Polish patients, TLR7 promoter flanking gene polymorphisms might be associated with IA and SLE but not DLE.
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Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2018 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Tipo de estudo: Risk_factors_studies Idioma: En Ano de publicação: 2018 Tipo de documento: Article