Is there a gene test for B12 issues p... - Pernicious Anaemi...

Pernicious Anaemia Society

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Is there a gene test for B12 issues please? And has anyone done this?

Gillybean1•

2 years ago•4 Replies

Every best wish ,G

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Gillybean1

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Vitamin B12

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helvella2 years ago

There is some genetic evidence accumulating but it looks to be somewhat fragmentary.

It often happens that the first identification of some genetic variants is within a specific population. Hence papers which identify Chinese or Brazilian subjects. Maybe those variations are only found in some populations? Or we'll find them more widely distributed in future? And we can expect other variations to be found elsewhere.

A few links which illustrate where we are.

Contribution of genetic ancestry and polygenic risk score in meeting vitamin B12 needs in healthy Brazilian children and adolescents

pubmed.ncbi.nlm.nih.gov/340...

Genome-wide association study identifies novel loci associated with serum level of vitamin B12 in Chinese men

pubmed.ncbi.nlm.nih.gov/223...

Single nucleotide polymorphisms related to vitamin B12 serum levels in autoimmune gastritis patients with or without pernicious anaemia

pubmed.ncbi.nlm.nih.gov/256...

GWAS identifies population-specific new regulatory variants in FUT6 associated with plasma B12 concentrations in Indians

pubmed.ncbi.nlm.nih.gov/283...

Gillybean1• in reply tohelvella2 years ago

Thank you Helvella, for all the links and taking the time to reply. I will read through them all in the morning. Im not sure if I am muddling it up with something else ,but I thought there was a methr gene fault test....23youandme?? which connects...

Every best wish, G

helvella• in reply toGillybean12 years ago

Maybe you were thinking of this:

MTHFR

Also Known As; MTHFR DNA testing

labtestsonline.org.uk/tests...

Gambit62Administrator2 years ago

Please note - genetics off topic for the forum.

There are some genetic variants that can affect the way B12 is processed in your cells and will cause problems and some of these may have been referenced above in the papers helvella has quoted. These are not genes associated with the development of PA

The genes connected to the autoimmune gastritis that leads to B12 deficiency isn't known. There are some genetic variants that are associated with autoimmunity but these aren't dominant genes so there are environmental factors that are needed for the gene to express itself. There isn't a genetic variant definitively identified as being responsible for PA so there isn't a test for that.

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