Association Study Between VDR Gene Polymorphisms and Risk and Features of MG in Han Chinese Population

Completed

• Conditions: Myasthenia Gravis, Ocular; Gene Polymorphism

• Registration Number: NCT05380128
• Lead Sponsor: Beijing Tongren Hospital

Brief Summary

The Vitamin D receptor gene (VDR) polymorphisms are the candidate genetic variants for susceptibility to autoimmune diseases. In the present study, the investigators aimed to assess the association between VDR polymorphisms and myasthenia gravis (MG) susceptibility and disease features in Chinese Han population.The patients with MG and healthy controls were genotyped for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms using the improved multiple ligase detection reaction. Information on age at onset, acetylcholine receptor antibody (AChR-Ab) and muscle-specific kinase antibody (MuSK-Ab) status, thymus status, involved muscles at onset and Osserman type at the maximum worsening during 2 years follow-up were obtained and used as the grouping basis of sub-classifications. Intergroup comparisons of allele and genotype frequencies, haplotype distributions were performed between MG group and the control group, and between each pair of MG subgroups.

Detailed Description

Not available

Study Timeline

• Study Start: 2017-06-01
• Primary Completion: 2019-12-31
• Status Verified: 2022-05
• Study Completion: 2022-05-09
• Study First Submitted: 2022-05-11
• Study First Submitted QC: 2022-05-15
• Last Update Submitted: 2022-05-15
• Study First Posted: 2022-05-18
• Last Update Posted: 2022-05-18

Recruitment & Eligibility

• Status: COMPLETED
• Sex: All
• Target Recruitment: 297

Inclusion Criteria

• Clinical diagnosis of myasthenia gravis.
• Han Chinese population.
• Must be able to complete a 2-year follow-up visit.

Exclusion Criteria

• Clinical data collection can not be completed.
• Poor compliance.

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Association between VDR gene polymorphism and MG susceptibility	up to 2 years	Codominant, dominant and recessive genetic models and haplotype analysis were applied to compare the difference between MG and control groups.

Secondary Outcome Measures

Name	Time	Method
Association of VDR gene polymorphism with MG subgroups	up to 2 years	To study the precise effect of single nucleotide polymorphisms (SNPs) in the different population, the MG patients were divided into subgroups according to essential clinical variables, including onset age (≤50 or \>50 years), thymus status (thymoma or non-thymoma, by pathology), AChR / MuSK Abs (positive or negative), onset involvement (ocular or generalized) and Osserman type at the maximum worsening (type I or IIa-IIb or III-V). The investigators analyzed the distribution of genes in each group.

Trial Locations

Locations (1)

Beijing Tongren Hospital; 🇨🇳 Beijing, China