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

NCT05380128 | Completed

• 1 other identifier: BeijingTH-20220509
• Study Type: observational
• Target: 297
• Locations: 1 country
• Sites: 1

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.

Conditions

Myasthenia Gravis, Ocular; Gene Polymorphism

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (1)

• Association of VDR gene polymorphism with MG subgroups

  up to 2 years

Study Arms (2)

MG group

Unrelated patients with MG were included in the study. They were enrolled in the Neurology Department of Beijing Tongren Hospital, Capital Medical University and fulfilled the clinical and electromyography diagnostic criteria for acquired MG. Simply, all MG patients met the following diagnostic criteria: typical symptoms of fluctuating muscle weakness, positive result of neostigmine test, and decremental response to low-frequency repetitive nerve stimulation. Information on age at onset, AChR / MuSK Abs status (partly), 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. They were genotyped for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms

Genetic: Genotype analysis for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms

Healthy control

The geography and ethnically matched control group consisted of 146 unrelated healthy subjects. They were genotyped for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms.

Genetic: Genotype analysis for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms

Interventions

Genotype analysis for VDR rs1544410, rs2228570, rs731236, and rs7975232 polymorphisms GENETIC

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).

Healthy control; MG group

Eligibility Criteria

• Age: 16 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with confirmed myasthenia gravis and healthy volunteers.

You may qualify if:

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

You may not qualify if:

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

Sponsors & Collaborators

• Beijing Tongren Hospital: lead

Study Sites (1)

Beijing Tongren Hospital

Beijing, China

Location

Related Publications (1)

• Dai Y, Wu F, Ni S, Guo S, Lu L, Zhao X. Vitamin D receptor gene polymorphisms are associated with the risk and features of myasthenia gravis in the Han Chinese population. Immunol Res. 2023 Jun;71(3):404-412. doi: 10.1007/s12026-022-09349-x. Epub 2023 Jan 7.

  PMID: 36609978 DERIVED

MeSH Terms

Conditions

Myasthenia Gravis

Interventions

Genotype

Condition Hierarchy (Ancestors)

Paraneoplastic Syndromes, Nervous System; Nervous System Neoplasms; Neoplasms by Site; Neoplasms; Paraneoplastic Syndromes; Autoimmune Diseases of the Nervous System; Nervous System Diseases; Neurodegenerative Diseases; Neuromuscular Junction Diseases; Neuromuscular Diseases; Autoimmune Diseases; Immune System Diseases

Intervention Hierarchy (Ancestors)

Genetic Phenomena

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: May 11, 2022
• First Posted: May 18, 2022
• Study Start: June 1, 2017
• Primary Completion: December 31, 2019
• Study Completion: May 9, 2022
• Last Updated: May 18, 2022

Record last verified: 2022-05

Data Sharing

• IPD Sharing: Will not share

Locations

CN (1)