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

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.

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT05284929

Enrollment

120

Registered

2022-03-17

Start date

2017-05-17

Completion date

2023-03-17

Last updated

2022-03-17

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

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

Brief summary

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.

Interventions

GENETICA single blood sample for HLA typing

Extracting of DNA from the blood sample using PCR-reaction

Study design

Observational model

CASE_CONTROL

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Healthy volunteers

Yes

Inclusion criteria

* Signed informed consent * Age of patients \>18 years * Confirmed diagnosis

Exclusion criteria

* No as pemphigus is a life-threatening condition

Design outcomes

Primary

Measure	Time frame	Description
Estimation of HLA-DRB1 and HLA-DQB1 alleles frequencies in PV patients and controls	May 2017 - 2023	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.

Countries

Russia

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026