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Variations of the perforin gene in patients with multiple sclerosis

Discussion in 'Multiple Sclerosis' started by nanonug, May 9, 2012.

  1. nanonug

    nanonug Senior Member

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    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.

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