Gene Polymorphism, Myasthenia Gravis, Ocular
Conditions
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.
Interventions
GENETICGenotype 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).
Sponsors
Beijing Tongren Hospital
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
16 Years to No maximum
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Association between VDR gene polymorphism and MG susceptibility | 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
| Measure | Time frame | Description |
|---|---|---|
| Association of VDR gene polymorphism with MG subgroups | 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. |
Countries
China
Outcome results
None listed