ArticleAmerican journal of human genetics2022
Family history aggregation unit-based tests to detect rare genetic variant associations with application to the Framingham Heart Study.
Article in American journal of human genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Association between Atherogenic index of plasma and gallstones in the United States adults: A cross-sectional analysis of NHANES 2017-2020.Preventive medicine reports · 2025Article
- Leveraging family history in genetic association analyses of binary traits.BMC genomics · 2022Article
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Authors and funding
8 authors.
Funding
Abstract
A challenge in standard genetic studies is maintaining good power to detect associations, especially for low prevalent diseases and rare variants. The traditional methods are most powerful when evaluating the association between variants in balanced study designs. Without accounting for family correlation and unbalanced case-control ratio, these analyses could result in inflated type I error. One cost-effective solution to increase statistical power is exploitation of available family history (FH) that contains valuable information about disease heritability. Here, we develop methods to address the aforementioned type I error issues while providing optimal power to analyze aggregates of rare variants by incorporating additional information from FH. With enhanced power in these methods exploiting FH and accounting for relatedness and unbalanced designs, we successfully detect genes with suggestive associations with Alzheimer disease, dementia, and type 2 diabetes by using the exome chip data from the Framingham Heart Study.
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Registered trials
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