ERAP1 and HLA-C*06 are strongly associated with the risk of psoriasis in the population of northern Poland
| Autor: | Aneta Szczerkowska-Dobosz, Magdalena Gabig-Cimińska, Lidia Cybulska, Agnieszka Haraś, Roman Nowicki, Marta Stawczyk-Macieja, Krzysztof Rębała, Ewa Kapińska |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Population Genome-wide association study Single-nucleotide polymorphism Context (language use) Dermatology 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Psoriasis Area and Severity Index Psoriasis medicine genetic polymorphism Immunology and Allergy Allele education Original Paper education.field_of_study business.industry psoriasis medicine.disease 030104 developmental biology genome-wide association studies Immunology Population study business |
| Zdroj: | Advances in Dermatology and Allergology/Postȩpy Dermatologii i Alergologii |
| ISSN: | 1642-395X |
| Popis: | Introduction HLA-C*06 is a major psoriasis genetic risk marker. Recent reports have been focused on the role of different polymorphisms within genes involved in the functioning of the epidermal barrier and antigen processing in the pathogenesis of psoriasis. Data on the association between genetic variants of LCE3B_LCE3C, CSTA, ERAP1, ZAP70 and this dermatosis in the population from Eastern Europe are lacking. Aim To compare the association between known genetic risk markers and psoriasis in a cohort of northern Polish patients with psoriasis and healthy controls. Material and methods Based on previous studies’ results, five susceptibility loci: HLA-C, LCE3C_LCE3B, ERAP1, ZAP70 and CSTA were selected for genotyping in 148 patients with chronic plaque psoriasis and 146 healthy controls. Each patient with this disease was clinically assessed with the Psoriasis Area and Severity Index. Results The study population showed a significant association of psoriasis and a single nucleotide polymorphism in the ERAP1 – rs26653 (p = 3.11 × 10–5) and HLA-C*06 allele (p = 1.02 × 10–11) when compared with the control group. The presence of HLA-C*06 or rs26653 G allele significantly increased the risk of psoriasis by 2.4 times or twice, respectively. Carrying rs26653 C allele considerably decreased the risk of psoriasis by 1.5 times. Conclusions In the context of pathogenesis of psoriasis, our findings might give the evidence on disturbances in the proteolytic processing of N-terminal fragments of antigens presented via major histocompatibility complex class I to T cells. |
| Databáze: | OpenAIRE |
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