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Multiple Sclerosis Polygenic Risk Is Not Enriched in Three Multicase Families in Comparison to Population-Based

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Multiple sclerosis (MS) risk is higher in families with multiple cases, but this genetic risk doesn't fully explain MS clustering within families. Elevated polygenic risk was observed in both affected and unaffected family members compared to the general population.

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Area of Science:

  • Genetics
  • Neurology
  • Immunology

Background:

  • Multiple sclerosis (MS) is a complex neurological autoimmune disease with a known genetic basis.
  • While rare, families with multiple MS cases suggest a potential genetic predisposition.
  • Previous studies indicate a polygenic component to MS risk.

Purpose of the Study:

  • To investigate if polygenic risk for MS is elevated in families with multiple MS cases compared to a general case-control cohort.
  • To determine the contribution of polygenic risk to MS familial aggregation.

Main Methods:

  • Calculated a weighted polygenic risk score (wPRS) for MS using genome-wide association study data.
  • Applied the wPRS to a population-based MS case-control cohort (3,252 cases, 5,725 controls).
  • Analyzed wPRS in three multicase MS families (9 affected, 10 unaffected individuals).

Main Results:

  • The wPRS was significantly higher in MS cases versus controls in the population-based cohort (P = 2.2 × 10^-16).
  • Familial MS cases showed no significant difference in wPRS compared to population-based MS cases (P > 0.05).
  • Both affected and unaffected MS family members had higher wPRS than population controls, indicating elevated genetic susceptibility beyond the general population.

Conclusions:

  • MS families exhibit higher polygenic risk, but this level is comparable to that of sporadic MS cases.
  • Elevated polygenic risk in unaffected family members suggests it doesn't fully account for MS clustering.
  • The presence of the HLA-DRB1 15:01 risk allele was inconsistent across families, highlighting the complexity of MS genetics.