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Variations of the perforin gene in patients with multiple sclerosis

nanonug

Senior Member
Messages
1,709
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.