Application of the STAAR framework in detecting rare variant associations with Alzheimer disease and related dementias: Insights and implications

Human Genetics and Genomics Advances 2026 Open access

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Authors: Dongyu Wang, Sabrina Abbruzzese, Nancy Heard-Costa, Andy Rampersaud, Eden Martin, Adam C Naj, Bilçağ Akgün, Brian Kunkle, Sudha Seshadri, Gina Peloso, Anita L. DeStefano, Zilin Li
+2 more Xihao Li, Seung Hoan Choi
DOI: 10.1016/j.xhgg.2026.100574
Cited by: 1
References: 44

Abstract

), while TBX19, PLXNB2, CARD11, and LINC01880 remained significantly associated with cognitively healthy status. We identified and addressed the computational limitations in the STAAR framework that could lead to potential spurious results for ultra-rare variant aggregates with an extremely low cumulative minor-allele count. Our proposed refinements produced more robust results for associations with rare variants in the context of dichotomous outcomes.

Fields of Study & Subjects

Genetic Associations and Epidemiology Genomics and Rare Diseases Alzheimer's disease research and treatments

Publication details

Journal / source
Human Genetics and Genomics Advances
Publisher
Elsevier BV
Volume
7
Issue
2
Pages
100574–100574
Publication date
20 January 2026
Language
EN