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Replication analysis of variants associated with multiple sclerosis risk

Mohammad Dashti1, Khadijah Ateyah2, Raed Alroughani3

  • 1Genetics and Bioinformatics department, Dasman Diabetes Institute, Sharq, Kuwait City, Kuwait.

Scientific Reports
|May 2, 2020
PubMed

Insights

Genetic factors influence Multiple Sclerosis (MS) risk in the Kuwaiti population. Variants in EVI5, MTHFR, and TNFRSF1A genes are identified as significant MS risk factors.

Area of Science:

  • Neuroimmunology
  • Genetics
  • Epidemiology

Background:

  • Multiple Sclerosis (MS) is a chronic neurodegenerative disease driven by autoimmune responses against myelin.
  • Genetic associations with MS risk vary significantly across diverse populations.
  • Understanding population-specific genetic risk factors is crucial for targeted prevention and treatment strategies.

Purpose of the Study:

  • To investigate the association of established Multiple Sclerosis (MS) risk genetic variants within the Kuwaiti Arab population.
  • To identify specific genetic factors contributing to MS susceptibility in this demographic.
  • To validate findings from exome analysis through replication studies.

Main Methods:

  • Case-control study design comparing Kuwaiti MS patients and healthy controls.
  • Exome analysis of 94 reported MS risk variants.
  • Replication analysis to confirm associations of promising variants.

Main Results:

  • Four variants (EVI5 rs11808092, TNFRSF1A rs1800693, MTHFR rs1801131, CD58 rs1414273) initially showed association in Arab exome analysis.
  • Replication confirmed EVI5 rs11808092A (OR: 1.6, p=0.002) and MTHFR rs1801131G (OR: 1.79, p=0.001) as significant MS risk factors in Kuwait.
  • TNFRSF1A rs1800693C showed marginal association (OR: 1.36, p=0.025), while CD58 rs1414273 did not sustain risk association.

Conclusions:

  • EVI5 rs11808092A, TNFRSF1A rs1800693C, and MTHFR rs1801131G are confirmed MS risk factors in the Kuwaiti population.
  • These findings highlight population-specific genetic contributions to MS.
  • Further research is warranted to elucidate the roles of these variants in MS pathogenesis and progression.

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