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

NCT ID: NCT05380128

Last Updated: 2022-05-18

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

COMPLETED

Total Enrollment

297 participants

Study Classification

OBSERVATIONAL

Study Start Date

2017-06-01

Study Completion Date

2022-05-09

Brief Summary

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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

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Conditions

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Myasthenia Gravis, Ocular Gene Polymorphism

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

PROSPECTIVE

Study Groups

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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

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

Intervention Type 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

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

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

Intervention Type 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).

Interventions

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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).

Intervention Type GENETIC

Eligibility Criteria

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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.
Minimum Eligible Age

16 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Beijing Tongren Hospital

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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Beijing Tongren Hospital

Beijing, , China

Site Status

Countries

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China

References

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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.

Reference Type DERIVED
PMID: 36609978 (View on PubMed)

Other Identifiers

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BeijingTH-20220509

Identifier Type: -

Identifier Source: org_study_id

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