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Updated: Sep 8, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Association of HLA-DRA, HLA-DQA1, and IL-6 gene variations with susceptibility to multiple sclerosis
Gulsah Koc1, Aysegul Sahbaz2, Busranur Oguz Selcuk3
1Faculty of Medicine, Department of Medical Biology, Istanbul Aydin University, Istanbul, Turkey. gulsahkoc@aydin.edu.tr.
Background:
Multiple sclerosis (MS), which can lead to severe physical or cognitive disability and neurological deficits, is a chronic autoimmune disease affecting the central nervous system (CNS). The etiology and pathogenesis of MS remain unclear; nonetheless, it is asserted that its cause is complex, with genetic predisposition playing a significant role. In this study, our aim was to analyze the relationship between MS and HLA-DRA (rs3135388 and rs3135391), HLA-DQA1 (rs9272346) and IL-6 (rs1800795 and rs1900796) gene polymorphisms, which play an important role in inflammation and immune response.
Methods:
The study included 100 healthy controls and 98 MS patients. Real-time polymerase chain reaction (RT-PCR) was used to analyze variations in rs3135388 and rs3135391 in the HLA-DRA gene, rs9272346 in the HLA-DQA1 gene, and rs1800795 and rs1900796 in the IL-6 gene following DNA isolation from peripheral blood. Statistical techniques were applied to assess the outcomes.
Results:
The results showed a significant difference in IL-6 (rs1800796) G/C (p = 0.024) between the patient and control groups when genotypes and allele distributions were analyzed. HLA-DQA1 (rs9272346) and HLA-DRA (rs3135388 and rs3135391) variations did not substantially differ between the two groups. Similarly, no significant difference was found between the two groups in VitD, B12 and folic acid parameters, and there was no relationship between these parameters and genotypes.
Conclusion:
There is evidence suggesting a significant association between IL-6 (rs1800796) polymorphisms and MS. IL-6 (rs1800796) GC genotype may be associated with disease susceptibility or risk. This should be taken into account in association and intervention studies on MS.
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