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

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Brief Title

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

Official Title

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

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.
    



Study Type

Observational


Primary Outcome

Association between VDR gene polymorphism and MG susceptibility

Secondary Outcome

 Association of VDR gene polymorphism with MG subgroups

Condition

Myasthenia Gravis, Ocular

Intervention

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

Study Arms / Comparison Groups

 MG group
Description:  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

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information


Recruitment Status

Genetic

Estimated Enrollment

297

Start Date

June 1, 2017

Completion Date

May 9, 2022

Primary Completion Date

December 31, 2019

Eligibility Criteria

        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.
      

Gender

All

Ages

16 Years - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

, , 

Location Countries

China

Location Countries

China

Administrative Informations


NCT ID

NCT05380128

Organization ID

BeijingTH-20220509


Responsible Party

Sponsor

Study Sponsor

Beijing Tongren Hospital


Study Sponsor

, , 


Verification Date

May 2022