Human Leukocyte Antigen Class II (DRB1 and DQB1) Alleles and Haplotypes Frequencies in Patients With Pemphigus Vulgaris Among the Russian Population

Study Overview
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Brief Summary
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Pemphigus is a rare autoimmune life-threatening blistering condition affecting skin and mucous membranes. Pemphigus belongs to a family of polygenic disorders. Several different genes encoding molecules regulate pemphigus autoimmunity. Many trials focused on HLA investigation. Increased levels of certain HLA class II alleles frequencies in pemphigus have been reported in various populations. However, they were not investigated in the Russian population. The aim of our study is to investigate HLA class II alleles and haplotypes in Russian patients with pemphigus. Methods Patients and controls We are recruiting 120 patients with pemphigus. The diagnosis was based on clinical and histopathological findings and confirmed by immunofluorescent techniques (direct and indirect immunofluorescent tests). Before sampling, written consent was obtained from each subject. A single blood sample for HLA typing was obtained from all subjects. This study has been approved by the Ethics Committee of Sechenov University, Russia. Phenotypic and allelic frequencies were compared with healthy blood donors (n=100) registered in Sechenov University blood center.

Official Title
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Increased Frequencies of Certain HLA Class II Alleles DRB1 and DQB1 in PV Patients Compared to Those in Healthy Donors Have Been Reported in Various Populations and Repeatedly Confirmed. Among the Russian Population, no Studies About the Association of PV and HLA Class II Genes Have Been Conducted. Thus, the Purpose of This Study Was to Investigate HLA Class II Alleles and Haplotypes in Russian Patients With Pemphigus Vulgaris.

Conditions
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Pemphigus, Bullous Pemphigoid, Stevens-Johnson Syndrome, Toxic Epidermal Necrolyses

Intervention / Treatment
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* Genetic: A single blood sample for HLA typing


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Signed informed consent Age of patients >18 years Confirmed diagnosis Exclusion Criteria: No as pemphigus is a life-threatening condition
Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Patients with pemphigus<br> | Genetic: A single blood sample for HLA typing<br>* Extracting of DNA from the blood sample using PCR-reaction<br>|
| Healthy controls<br> | Genetic: A single blood sample for HLA typing<br>* Extracting of DNA from the blood sample using PCR-reaction<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Estimation of HLA-DRB1 and HLA-DQB1 alleles frequencies in PV patients and controls | The frequencies of HLA alleles will be counted directly from genotyping data, while the frequencies of haplotypes will be estimated with an expectation-maximization algorithm using the ARLEQUIN software package (version 3.11), leading to maximum-likelihood estimates of gene frequencies. To compare the differences between frequencies in the donor and patient groups the Fisher exact test will be performed. | May 2017 - 2023 |