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

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.

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Key information

Conditions

Myasthenia Gravis, Ocular Autoimmune Diseases Autoimmune Diseases of the Nervous System Gene Polymorphism Immune System Diseases Myasthenia Gravis Neoplasms Neoplasms by Site Nervous System Diseases Nervous System Neoplasms Neurodegenerative Diseases Neuromuscular Diseases Neuromuscular Junction Diseases Paraneoplastic Syndromes Paraneoplastic Syndromes, Nervous System

Age range

16 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Beijing Tongren Hospital

Beijing, China

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

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).

Primary outcomes

Association between VDR gene polymorphism and MG susceptibility

Time frame: up to 2 years

Codominant, dominant and recessive genetic models and haplotype analysis were applied to compare the difference between MG and control groups.

Secondary outcomes

Association of VDR gene polymorphism with MG subgroups

Time frame: up to 2 years

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.

Sponsors and collaborators

Lead sponsor

Beijing Tongren Hospital

Other

Registry information

Official study title

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

Important dates

Study start: 2017
Primary completion: 2019
Study completion: 2022
First posted: May 18, 2022
Registry last updated: May 18, 2022

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This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed