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Variations of the perforin gene in patients with multiple sclerosis

nanonug

Senior Member
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Location
Virginia, USA
Variations of the perforin gene in patients with multiple sclerosis

Possibly pathogenic polymorphisms available on 23andme are:
  • rs28933374 (P345L) - risk allele 'T'
  • rs28933375 (A252S) - risk allele 'C'
  • rs28933376 (T435M) - risk allele 'T'
  • rs35947132 (A91V) - risk allele 'A'

Additional info available on Pubmed's PFR1 Variation Iewer.

By the way, I am heterozygous for rs35947132 (A91V), one the polymorphisms mentioned in the study. There are a bunch more studies on Pubmed regarding these and other polymorphisms.