Pernicious Anemia, as genome-wide studies have reported it: 5 positions from 1 study, the largest recording 1,429 cases and 570,568 controls (African American or Afro-Caribbean ancestry, European ancestry). Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
This is the record of what genome-wide association studies have found for Pernicious Anemia (the GWAS Catalog's "Pernicious anemia (PheCode 281.11)"): 5 positions reported by 1 study. The page is put together by code from the catalogue's records and the studies' own listings, and it is rebuilt whenever the records change, so it always reflects them as they stand.
Verma A et al. 2024, in Science — Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Sample in the catalogue's record: 1,429 cases and 570,568 controls (African American or Afro-Caribbean ancestry, European ancestry). It contributes 5 positions: rs146734497 (TMEM72), rs541051646 (near LGR6), rs537837866 (LINC02028), rs576359040 (MARCHF1), rs567953174 (POU2F3). PMID:39024449.
The catalogue maps the 5 positions to 5 genes: TMEM72, LGR6, LINC02028, MARCHF1, POU2F3. That mapping says where a position sits, in a gene or beside one — not what it does. For what each study measured, follow its citation above.
The strongest association in the records is rs146734497 in TMEM72, reported by Verma A et al. 2024 at P = 9 × 10-13.
Association records say which positions differ, on average, between people with Pernicious Anemia and people without. They do not describe the condition, say how common it is, or tell anyone what to do, so this page does not either. For a single position, open its variant page: it gives that study's record in fixed sentences, with ClinVar's where there is one.
Nothing on this page diagnoses Pernicious Anemia. The 5 variants here are research findings; no guideline uses them to predict, screen for or diagnose the condition — that is a clinician's work.
Everything here comes from population-level association records, put together by code. Those records compare groups of people; they do not examine anyone, and they give no guidance on care. For symptoms, testing or treatment, ask a clinician.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Pernicious Anemia comes down to these specific, well-studied positions — not a diagnosis.
Databases, guidelines and references
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Pernicious Anemia. MyGeneLog™. https://www.mygenelog.com/conditions/pernicious-anemia
Pernicious Anemia is the condition the GWAS Catalog files under "Pernicious anemia (PheCode 281.11)". This page does not define it in its own words; it lists what genome-wide studies have reported: 5 positions from 1 study, with each study's sample and citation.
Genome-wide studies have reported 5 associated positions; the largest study behind this page recorded 1,429 cases and 570,568 controls (African American or Afro-Caribbean ancestry, European ancestry). Each common variant has a small effect, and an association in a population is not a cause in any one person.
The positions lie in or near 5 genes: TMEM72, LGR6, LINC02028, MARCHF1, POU2F3. A mapped gene is the catalogue's location for a position, not a mechanism.
No. They are population-level findings of small effect. Pernicious Anemia is diagnosed by a clinician, and no guideline uses a genotype to predict it.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.