NCT05380128

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

Association Study Between Vitamin D Receptor Gene Polymorphisms and Risk and Features of Myasthenia Gravis in Han Chinese Population

• Status: Completed
• Phase: —
• Study type: Observational
• Enrollment: 297 (actual)
• Sponsor: Beijing Tongren Hospital · Academic / Other
• Sex: All
• Age: 16 Years
• Healthy volunteers: Accepted

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.

Conditions

• Myasthenia Gravis, Ocular
• Gene Polymorphism

Interventions

Type	Name	Description
GENETIC	Genotype analysis for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms	Genomic DNA was extracted from peripheral blood samples using a Wizard Genomic DNA Purification Kit (Promega, Madison,Wisconsin, USA) as per the product instruction. VDR (rs731236, rs1544410, rs7975232, rs2228570) polymorphisms were genotyped by the improved Multiple Ligase Detection Reaction (iMLDR) developed by Genesky Biotechnologies Inc. (Shanghai, China).

Timeline

• Start date: 2017-06-01
• Primary completion: 2019-12-31
• Completion: 2022-05-09
• First posted: 2022-05-18
• Last updated: 2022-05-18

Locations

1 site across 1 country: China