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APOE

Not a medical test — for research and educational use only

Yeliztli analyses consumer genotyping-array data (23andMe / AncestryDNA), which is not a clinical-grade test. Results are not diagnostic, are not clinically validated, and must not be used to make medical decisions. Array data is especially unreliable for rare, disease-causing variants. Always confirm any finding with an accredited clinical laboratory and discuss it with a qualified clinician or genetic counsellor before acting on it. See the Intended use & disclaimers page for the details and the evidence behind this warning.

This is an opt-in module

Determined APOE results — especially the ε4 status linked to Alzheimer's risk — stay hidden until you explicitly acknowledge that you want to see them. If the upload does not contain enough direct genotype data to make an APOE call, Yeliztli reports that limitation instead of guessing. You're in control of when (or whether) to reveal a determined result.

APOE is one of the most studied genes in human health. When your uploaded raw-data file contains direct calls for both epsilon-defining SNPs, rs429358 and rs7412, Yeliztli determines your APOE diplotype (the ε2/ε3/ε4 combination).

What you'll see

If both ε-defining SNPs are directly typed and callable, you'll see your diplotype (e.g. ε3/ε4) and three findings:

  1. Cardiovascular — lipid metabolism and statin-response context.
  2. Alzheimer's disease — a relative-risk estimate, explicitly framed as a probabilistic risk factor, not a diagnosis.
  3. Dietary fat response — how your diplotype relates to saturated-fat sensitivity.

When APOE can't be determined

An APOE result requires direct, callable genotypes at both rs429358 and rs7412. If either SNP is absent from your raw file, appears as a no-call, or has an unexpected allele pattern, Yeliztli does not infer an APOE diplotype and does not create the three APOE findings. The page may report a status such as missing SNPs, no call, or ambiguous; that means the array data cannot support a call, not that Alzheimer's-risk status has been silently determined.

This is expected for many consumer-array exports. The module treats the uploaded file as the source of truth and does not rescue missing APOE SNPs by imputation. 23andMe v5 is the supported custom-content case most likely to include both ε-defining SNPs directly; older 23andMe v3/v4 and AncestryDNA v2.0 uploads may produce missing SNPs if their raw files do not include both rs429358 and rs7412.

Good to know

  • The Alzheimer's estimate is a population-average relative risk — it is not tailored to your age, sex, or ancestry, and many ε4 carriers never develop Alzheimer's.
  • There is no preventive treatment that depends on knowing your APOE status, which is part of why the result is gated behind explicit consent.
  • The diplotype is inferred from two epsilon-defining SNPs, rs429358 and rs7412.
  • Treat consumer-array APOE calls as provisional: these loci are documented array weak spots, and array/imputed APOE agrees with direct clinical genotyping at only ~90% ε genotype / ~93% ε4 status. Confirm any actionable ε4 or ε2 call in a CLIA/accredited lab before medical decisions (PMID 24448547, PMID 22972946, PMID 24903779).