allele positivity
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2021 ◽  
Vol 13 (3) ◽  
pp. 324-31
Author(s):  
Thianti Sylviningrum ◽  
Ismiralda Oke Putranti ◽  
Octavia Permata Sari ◽  
Fitranto Arjadi ◽  
Triasari Oktavriana

BACKGROUND: Psoriasis is an autoimmune disease involving genetic-environmental factors. Human Leukocyte Antigen (HLA)-Cw6 allele is the main genetic risk factor of psoriasis, but its prevalence varies widely. HLA-Cw6 allele correlates with psoriasis clinical type and treatment responses. Narrowband ultraviolet B (NB-UVB) and methotrexate (MTX) are effective psoriasis treatments but their association with HLA-Cw6 allele has not been identified. The study aims to determine the association between HLA-Cw6 allele expression, NB-UVB, and MTX treatment responses in Javanese-Indonesian psoriasis subjects.METHODS: Ninety Javanese-Indonesian psoriasis subjects were recruited in this study, 45 subjects were treated using NB UVB, while the other 45 subjects were treated using MTX, respectively, for 12 weeks. The psoriasis diagnosis and treatment responses were evaluated by dermatologists using Psoriasis Area Severity Index (PASI) score. The HLA-Cw6 allele was examined using the single-specific-primer polymerase chain reaction method. Fisher's Exact and Chi-square tests were employed, where p-value<0.05 was considered of significant association.RESULTS: The HLA-Cw6 allele positivity was identified in 23 psoriasis subjects (25.56%), while the other 67 subjects expressed HLA-Cw6 allele negative (74.44%). Female with HLA-Cw6 allele positivity who did not have comorbid disease show good response to NB-UVB than MTX. Meanwhile, subjects who were treated with MTX showed no association between therapeutic response and HLA-Cw6. HLA-Cw6 status was not correlated with the onset of psoriasis, family history, and comorbid diseases in all subjects.CONCLUSION: HLA-Cw6 allele expression is more associated with good NB-UVB treatment response than with MTX treatment response in female Javanese-Indonesian psoriasis subjects without comorbid disease.KEYWORDS: HLA-Cw6, narrowband ultraviolet B, methotrexate, Javanese, psoriasis 


Rheumatology ◽  
2018 ◽  
Vol 58 (3) ◽  
pp. 476-480 ◽  
Author(s):  
Laura C Cappelli ◽  
Mehmet T Dorak ◽  
Maria P Bettinotti ◽  
Clifton O Bingham ◽  
Ami A Shah

Abstract Objective To evaluate the frequency of HLA class I and II alleles associated with traditional forms of inflammatory arthritis in patients with immune checkpoint inhibitor (ICI)-induced inflammatory arthritis as compared with population controls. Methods High-resolution HLA typing was performed on 27 patients with ICI-induced inflammatory arthritis and 726 healthy controls. Genotyping at the shared epitope (SE) locus (HLA DRB1) was performed on 220 RA cases. Allele-positivity rates and frequency of having at least one SE allele were compared using Fisher’s exact test between ICI-induced inflammatory arthritis and healthy controls. Frequency of having at least one SE allele was also compared between ICI-induced inflammatory arthritis and RA cases. Results Twenty-six patients with ICI-induced inflammatory arthritis were of European descent, and one was African American. In those 26 patients, 16 (61.5%) had at least one SE allele, significantly different from healthy controls of European descent, in whom 299 (41.2%) had at least one SE allele (odds ratio 2.3, P = 0.04). The allele-positivity rate of DRB1*04: 05 was also higher in the ICI-induced inflammatory arthritis group. The ICI-induced inflammatory arthritis population and RA patients of European descent did not differ in frequency of having at least one SE allele, but ICI-induced inflammatory arthritis patients were more likely to be autoantibody-negative for RF and anti-CCP antibodies. Conclusion Patients with ICI-induced inflammatory arthritis of European descent were more likely to have at least one SE allele than healthy controls. Further studies are needed to validate these findings and investigate whether a unique immunogenetic framework increases risk for different immune-related adverse events.


2003 ◽  
Vol 9 (4) ◽  
pp. 382-386 ◽  
Author(s):  
M Niino ◽  
S Kikuchi ◽  
T Fukazawa ◽  
I Yabe ◽  
K Tashiro

The relation between apolipoprotein (A PO E) gene polymorphisms and disease progression of multiple sclerosis (MS) is controversial. The present study was designed to investigate the relation between A PO E gene polymorphisms and Japanese patients with MS. We analysed the frequencies of A PO E gene polymorphisms in 135 MS patients and 134 healthy controls, using PC R-RFLP. The results showed no significant differences in the distribution of A PO E gene polymorphisms between MS patients and controls. With regard to disease progression, there was no association between A PO E gene polymorphisms and ε4 allele positivity and disease progression index (EDSS/years). Furthermore, in patients with more than 10 years of disease onset, there were no significant differences between the frequencies of ε4 allele and patients with EDSS of more than 6. A lthough the low rate of ε4 allele in Japan should be taken into consideration, our results showed no relation between APO E gene polymorphisms and Japanese patients with MS.


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