Yann Le Guen

Research Fellow, Stanford University

1 active project

Duplicate of Role of APOE missense variants in AD

Exploring the data to check whether or not the association of APOE missense variants (other than the APOE-e4 and APOE-e2 alleles) with AD or proxy-AD can be tested.

Scientific Questions Being Studied

Exploring the data to check whether or not the association of APOE missense variants (other than the APOE-e4 and APOE-e2 alleles) with AD or proxy-AD can be tested.

Project Purpose(s)

  • Ancestry

Scientific Approaches

Currently, I do not know exactly the available data that relates to Alzheimer's Disease. If the self reported parental diagnosis is available, then I will build a proxy-AD phenotype, meaning considering as AD case anyone with an ICD10 code that relates to AD or has reported a first degree relative with AD, other individuals will be considered as controls (providing that they are over 50 years old). This limit on controls age may changed depending on the percentage of individuals who report a first degree relative with AD between 40 and 50 years old for example. Then, my primary analysis will be a standard logistic regression (or linear-mixed model) on case-control diagnosis, adjusted for age-at-last visit, sex and 10 PCs (+ APOE2 and APOE4 dosages when relevant). Secondary analyses will include competing risk regression and linear regression on age-at-AD-onset (AAO), in individuals who are cases themselves and for whom AAO can be derived.

Anticipated Findings

The main anticipated finding is the replication of our association results with APOE[R145C] https://www.medrxiv.org/content/10.1101/2021.10.20.21265141v1. Secondary findings may include other APOE non-synonymous variants associated with AD.
Overall, identifying other APOE variants associated with AD will contribute to shed new lights on APOE's role in AD pathogenesis.

Demographic Categories of Interest

  • Race / Ethnicity
  • Age

Data Set Used

Controlled Tier

Research Team

Owner:

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