Association of HLA-DRB1, HLA-DQB1 Alleles, and TNF-α Promoter Polymorphisms with Multiple Sclerosis in the Cuban Population
Authors
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Alberto Cintado-Benitez
Center for Genetic Engineering and Biotechnology
https://orcid.org/0009-0004-9107-3367
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Maria Elena Fernández-de-Cossio
Neurological Surgery Department, University of Miami
https://orcid.org/0009-0002-9350-6168
DOI:
https://doi.org/10.70099/BJ/2024.01.02.14Keywords:
HLA, TNF-Alpha, polymorphism, SNP, Multiple Sclerosis, Cuban populationAbstract
Multiple sclerosis (MS) is an inflammatory, demyelinating, autoimmune disease of the central nervous system.It is known that the Major Histocompatibility Complex class II region produces the most potent effect on MS genetic susceptibility. In addition, the genetic polymorphism within the TNF locus has been involved in the pathogenesis of various autoimmune diseases. This study has the purpose of evaluating HLA-DRB1, HLA-DQB1 alleles and TNF promotor alpha gene polymorphism (SNP TNF- α -238 G/A; - 243G/A; -308 G/A; -375 G/A, -856 C/T; -862 C/A) in a sample of Cuban MS patients. Disease-associated HLA susceptibility alleles were genotyped by the SSP-PCR method. The TNF-α genotypes were identified by sequencing. The association was found between HLA and MS, DRB1*15:01, DRB1* 14:01, DQA*01:02 and DQB1*06:02 being susceptibility alleles. TNF-α-308 G (OR=1,6, P<0,01) and TNF- α -238 G (OR=2,0,P<0,01) alleles had higher frequency among MS patients than control subjects. The odds ratio was increased among HLA-DRB1*1501 positive individuals. Our results have shown that the combination of TNF-α-238 G, -308 G with HLA-DRB1*15:01 and HLA-DQA1*01:02 increased susceptibility to MS (p<0.05 OR=4.2) in the Cuban population.
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