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Proxy Phenotype

Definition
AI-generated

A proxy phenotype uses a related indicator of disease or trait status when direct phenotyping is missing or weak—classically, family history of disease as a surrogate in GWAS-by-proxy designs, or educational attainment proxies for cognitive traits—expanding effective sample size at the cost of measurement complexity and possible bias.

Topics
Post-GWAS
Synonyms
GWAS by proxy
Related
Case-Control Study Cohort Genome-Wide Association Study (GWAS)

Why it matters in GWAS

Proxy designs can boost power for rare diseases or hard-to-ascertain traits but require careful interpretation because signal can reflect shared environment, assortative mating, or participation effects as well as genetics.

Example usage

"A replication analysis checks whether assumptions tied to Proxy Phenotype hold across cohorts."

Case-Control Study Cohort Genome-Wide Association Study (GWAS) Participation Bias Phenotype
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Liu JZ, Erlich Y, Pickrell JK. (2017). Case–control association mapping by proxy using family history of disease. Nat Genet.
  • Uffelmann E, et al. (2021). Genome-wide association studies. Nat Rev Methods Primers. https://doi.org/10.1038/s43586-021-00056-9
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