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Polymorphisms in the receptor tyrosine kinase MERTK gene are associated with multiple sclerosis susceptibility

Gerry Z M Ma1, Jim Stankovich,

  • 1Multiple Sclerosis Division, Florey Neuroscience Institutes, University of Melbourne, Melbourne, Victoria, Australia.

Plos One
|February 25, 2011
PubMed

Insights

This study identifies the MERTK gene as a novel risk factor for multiple sclerosis (MS) susceptibility. Genetic analysis revealed specific MERTK gene variants significantly associated with MS in large patient cohorts.

Area of Science:

  • Neuroimmunology
  • Genetics
  • Demyelinating Diseases

Background:

  • Multiple sclerosis (MS) is a chronic central nervous system demyelinating disease affecting millions globally.
  • TAM receptor tyrosine kinases, including MERTK, are implicated in demyelination processes in MS.
  • Genetic associations with MS risk require further investigation.

Purpose of the Study:

  • To investigate single nucleotide polymorphisms (SNPs) in TAM receptor genes for association with MS.
  • To identify novel genetic risk factors contributing to MS susceptibility.

Main Methods:

  • Genome-wide association study (GWAS) in 1618 MS cases and 3413 controls.
  • Replication study of 28 MERTK SNPs in 1140 MS cases and 1140 controls.
  • Analysis of linkage disequilibrium and combined p-values for SNP association.

Main Results:

  • Suggestive association of MERTK gene SNPs with MS identified in the discovery GWAS.
  • Replication of 12 MERTK SNPs in an independent cohort.
  • Seven SNPs showed strong association (p < 10^-5) when discovery and replication data were combined.
  • All replicated SNPs were in high linkage disequilibrium.

Conclusions:

  • The MERTK gene is identified as a novel genetic risk factor for multiple sclerosis susceptibility.
  • These findings contribute to understanding the genetic basis of MS.
  • Further research into MERTK's role in MS pathogenesis is warranted.

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