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Vitamin D receptor gene polymorphisms are associated with multiple sclerosis in Mexican adults
Víctor Hugo Bermúdez-Morales1, Geny Fierros1, Roberto Lopez Lopez1
1National Institute of Public Health, Colonia Santa Maria Ahuacatitlan, Cuernavaca, Morelos CP 62100, Mexico.
Background:
Multiple sclerosis (MS) is the most prevalent autoimmune inflammatory demyelinating disease of the central nervous system (CNS) in young adults. More than 50 genomic regions have been associated with MS susceptibility. Due the important immune-modulating properties of Vitamin D, Vitamin D receptor (VDR) gene polymorphisms - which interfere with the actions of Vitamin D- could be related to increased risk of MS.
Methods:
We studied 120 patients fulfilling the McDonald criteria for MS (81 females and 39 males) and 180 healthy unrelated controls, nested in a case-Control study, and were recruited from the National Institute of Neurology and Neurosurgery, Manuel Velasco Suárez in Mexico City. Genotyping of VDR gene polymorphisms BsmI (rs1544410) and TaqI (rs731236) was performed using TaqMan SNP Genotyping Assay which consists of a predesigned mix of unlabeled polymerase chain reaction (PCR) primers and the TaqMan minor groove binding group (MGB) probe (FAM dye-labeled).
Results:
There was a statistically significant, positive association between MS and the T/T genotype of BsmI polymorphism (OR=4.15; 95%CI 1.83-9.39), showing also a significant positive trend across genotypes (p<0.01). This association was also present evaluating the recessive inheritance model of the polymorphism (OR=3.91; 95%CI 1.77-8.64). When evaluating the association by alleles, the statistically significant positive association seen by genotypes was confirmed in the T allele carriers, showing an OR of 1.83 (95%CI 1.27-2.65) for MS.
Conclusions:
We found a positive association of the genetic VDR polymorphisms TaqI (rs731236) and BsmI (rs1544410), with the risk of MS in a sample of Mexican adults.
Insights
Vitamin D receptor (VDR) gene polymorphisms are linked to an increased risk of multiple sclerosis (MS). Specifically, BsmI and TaqI VDR polymorphisms show a significant positive association with MS in Mexican adults.
Area of Science:
- Neuroimmunology
- Genetics
- Endocrinology
Background:
- Multiple sclerosis (MS) is a leading autoimmune inflammatory demyelinating disease of the central nervous system (CNS).
- Over 50 genomic regions are implicated in MS susceptibility.
- Vitamin D's immune-modulating properties suggest a role for Vitamin D receptor (VDR) gene polymorphisms in MS risk.
Purpose of the Study:
- To investigate the association between VDR gene polymorphisms (BsmI and TaqI) and MS risk.
- To analyze VDR polymorphisms in a Mexican adult population.
Main Methods:
- A case-control study involving 120 MS patients and 180 healthy controls.
- Genotyping of VDR BsmI (rs1544410) and TaqI (rs731236) polymorphisms using TaqMan SNP Genotyping Assay.
- Analysis of genotype and allele frequencies and their association with MS risk.
Main Results:
- A statistically significant positive association was found between MS and the T/T genotype of the BsmI polymorphism (OR=4.15).
- A significant positive trend was observed across genotypes for the BsmI polymorphism (p<0.01).
- The T allele carriers showed a significant positive association with MS (OR=1.83).
Conclusions:
- Genetic VDR polymorphisms (TaqI and BsmI) are positively associated with the risk of developing MS.
- These findings highlight the potential role of VDR gene variations in MS pathogenesis within the studied Mexican population.