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Background:There are several subtypes ofLupus Erythematosus(LE), which may be limited to the skin (eg.Discoid Lupus Erythematosus, DLE) or involve multiple organ dysfunctions (Systemic Lupus Erythematosus, SLE). LE is an autoimmune disease that is influenced by genetic and environmental factors. Despite some genetic changes between DLE and SLE were previously shown, the complete genetic background of DLE is still unresolved [1]. Functional C-C chemokine receptor 5 (CCR5) receptor can be associated with the inflammation in LE patients. Importantly, the 32 base pairs (bp) deletion inCCR5gene (rs333) leads to a nonfunctional receptor. Previous studies have shown that this mutation may have a protective effect on the development and progression of SLE [2, 3]. Thus it was important to investigate whether 32 bp deletion in rs333 is also associated with DLE development.Objectives:The aim of this study was to investigate the variability of theCCR5gene, within a polymorphiclocusrs333 in SLE and DLE patients from the Polish population.Methods:120 LE patients (77 SLE patients and 43 DLE patients) and 100 healthy persons were recruited to the study from the Polish population. DNA was isolated from blood or buccal swabs. rs333 was genotyped by using polymerase chain reaction (PCR). Statistical significance of the differences between patient and control groups in both allele and genotype frequencies were calculated using Chi-Squared test with Yates correction or two tailed Fisher’s exact test.Results:Deletion allele of the rs333 was significantly less frequent among DLE patients than healthy persons (p = 0.0171). Also the heterozygotes occur significantly less frequent within DLE patients group than in healthy individuals (p = 0.0375). Moreover, homozygotes without deletion in rs333 were found significantly more frequent in persons diagnosed with DLE than in healthy volunteers (p = 0.0214). In contrast, the differences in allele or genotype frequencies between SLE patients and healthy controls were not statistically significant (p > 0.05). Moreover, the rs333 variability was not associated with clinical symptoms of LE patients (p > 0.05).Conclusion:Summarizing, the results obtained in this study suggest that the 32 bp deletion within rs333 could be a protective factor, that reduce the risk for DLE but not SLE development in the Polish population. However, due to the low statistical power of the obtained results, further studies on larger groups of patients and controls are needed to acquire more reliable data.References:[1]Skonieczna K, Czajkowski R, Kaszewski S, Gawrych M, Jakubowska A, Grzybowski T. (2017) Genetic similarities and differences between discoid and systemic lupus erythematosus patients within the Polish population. Postepy Dermatol Alergol. 34: 228-232.[2]Schauren JS, Marasca JA, Velt TD, Monticielo OA, Xavier RM, Brenol JCT et al (2013) CCR5 delta32 in systemic lupus erythematosus: implications for disease susceptibility and outcome in a Brazilian population. Lupus 22:802–809.[3]Martens, H.A., Kallenberg, C.G. & Bijl, M. (2009) Role of CCR5 Delta32 bp deletion in RA and SLE. Autoimmunity, 42, 260.Acknowledgments:KS was supported by the “Excellence Initiative - Research University” programme as a member of the team “Bioinformatics in medical & population genomics”.Disclosure of Interests:Katarzyna Skonieczna Grant/research support from: KS was supported by the “Excellence Initiative - Research University” programme as a member of the team “Bioinformatics in medical & population genomics”., Dominika Mlicka: None declared, Anna Woźniacka: None declared, Rafał Czajkowski: None declared, Ewa Robak: None declared, Mariusz Gawrych: None declared, Anna Duleba: None declared, Tomasz Grzybowski: None declared

Introduction Lupus erythematosus (LE) is an autoimmune disease with a strong influence of genetic and environmental factors. C-C motif chemokine receptor 5 ( CCR5 ) gene expression may affect the development and intensity of LE. Aim To evaluate the possible association between the 32bp deletion in rs333 locus located within the CCR5 gene and the development of LE or the occurrence of various clinical symptoms in the course of the disease. Material and methods One hundred and twenty patients with LE (77 with systemic lupus erythematosus (SLE) and 43 with discoid lupus erythematosus (DLE)) and 100 healthy controls from the Polish population were genotyped for deletion in rs333. Results 32 bp deletion in the rs333 was significantly more frequent among healthy individuals than DLE patients. Moreover, heterozygotes and homozygotes with deletion in rs333 were significantly more frequent within the control group than the group of patients with discoid lupus erythematosus. In contrast, any statistically significant differences in allele or genotype frequencies between healthy persons and SLE patients were observed. Furthermore, nucleotide sequence variability of rs333 was not associated with certain clinical symptoms of LE patients. Conclusions Deletion in the rs333 might be a protective factor for DLE, but not SLE in the Polish population. Nevertheless further studies performed on larger populations are needed to confirm these observations.

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