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

Gene Polymorphism Clinical Trial

Official title:

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT05380128
• Other study ID #: BeijingTH-20220509
• Status: Completed
• Start date: June 1, 2017
• Est. completion date: May 9, 2022

Study information

• Verified date: May 2022
• Source: Beijing Tongren Hospital
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 297
• Est. completion date: May 9, 2022
• Est. primary completion date: December 31, 2019
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: 16 Years and older

Eligibility

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.

Related Conditions & MeSH terms

• Gene Polymorphism
• Myasthenia Gravis
• Myasthenia Gravis, Ocular

Intervention

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).

Locations

Country	Name	City	State
China	Beijing Tongren Hospital	Beijing

Sponsors (1)

Lead Sponsor	Collaborator
Beijing Tongren Hospital

Country where clinical trial is conducted

China, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Association between VDR gene polymorphism and MG susceptibility	Codominant, dominant and recessive genetic models and haplotype analysis were applied to compare the difference between MG and control groups.	up to 2 years
Secondary	Association of VDR gene polymorphism with MG subgroups	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.	up to 2 years