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Vitamin D Receptor Polymorphism and Myasthenia Gravis in Chinese Han Population
- Source :
- Frontiers in Neurology, Vol 12 (2021), Frontiers in Neurology
- Publication Year :
- 2021
- Publisher :
- Frontiers Media SA, 2021.
-
Abstract
- Myasthenia gravis (MG) is an autoimmune disease in which antibodies bind to acetylcholine receptors (AChR) or other functional molecules in the postsynaptic membrane at the neuromuscular junction. Vitamin D (VD) has a number of pluripotent effects, which include immune-regulation and bone metabolism. The immunomodulatory actions of 1,25(OH)2D3 are mediated by its binding to a vitamin D receptor (VDR). In the study, we undertook a case-control study to explore the association between VDR gene polymorphism and the susceptibility and severity of MG patients. Four hundred and eighty MG patients and 487 healthy controls were included and gene polymorphisms of VDR were determined with improved multiplex ligation detection reaction technique and SNPscanTM technique. MG patients were classified into subgroups by essential clinical features and by a comprehensive classification. The frequencies of alleles and genotypes were compared between the MG group and the control group, between each MG subgroup and the control group, and between each pair of MG subgroups. There were no significant differences in frequencies of alleles and genotypes between MG patients and healthy controls, between MG subgroups and healthy controls, or between each pair of MG subgroups in the analysis of subgroups classified by essential clinical features (onset age, gender, thymoma, AChRAb positivity, onset involvement) and the maximal severity (modified Oosterhuis score). In the analysis of subgroups with a comprehensive classification, the frequencies of alleles and genotypes in rs731236 showed significant differences between adult non-thymoma AChRAb negative MG subgroup and the control group, as well as the adult non-thymoma AChRAb positive MG group. In the Chinese Han population, rs731236 was found to be possibly associated with adult non-thymoma AChRAb negative MG patients, although this needs further confirmation.
- Subjects :
- medicine.medical_specialty
Thymoma
severity
Calcitriol receptor
susceptibility
lcsh:RC346-429
polymorphism
03 medical and health sciences
0302 clinical medicine
Polymorphism (computer science)
Internal medicine
Genotype
medicine
Vitamin D and neurology
vitamin D receptor
lcsh:Neurology. Diseases of the nervous system
Original Research
Autoimmune disease
myasthenia gravis
business.industry
medicine.disease
Myasthenia gravis
Endocrinology
Neurology
030220 oncology & carcinogenesis
Gene polymorphism
Neurology (clinical)
business
030217 neurology & neurosurgery
Subjects
Details
- Language :
- English
- ISSN :
- 16642295
- Volume :
- 12
- Database :
- OpenAIRE
- Journal :
- Frontiers in Neurology
- Accession number :
- edsair.doi.dedup.....5d393ec64a54b7500869260ba69bdf1f
- Full Text :
- https://doi.org/10.3389/fneur.2021.604052