Genetic Sequencing of Pernicious Anemia?

[MoKayD]

Could someone more educated than me read this paper and explain the results? From what I could understand, this study analyzed DNA defects and how they effect B12 absorption. nature.com/articles/s41467-...

I like to see research like this.

[Gambit62 Administrator]

Data was analysed from several national banks of patient DNA sequences and reported medical conditions, including the UK biobank. The analysis found variants on 5 genes (all associated with higher susceptibility to developing auto-immune disorders) that correlate with higher incidence of PA (but don't seem to be affected by higher rates of other auto-immune conditions). That doesn't mean that these variants cause PA but that people with these variant may be more susceptible to developing PA. The point about cross referencing to other auto-immune conditions is that the results seem to show that these variants are directly related to PA and not related to PA via a general susceptibility to auto-immune conditions.

[MoKayD in reply to Gambit62]

Thank you so much for explaining this. Maybe someday genetic analysis will let doctors know which patients need to be monitored for possible B12 issues.

[WiscGuy in reply to MoKayD]

Maybe some day a majority of doctors will understand "general B12 issues", including the difference between blood symptoms and nerve symptoms and the related difference in treatments.