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Bi, Wenjian; Zhou, Wei; Zhang, Peipei; Sun, Yaoyao; Yue, Weihua; Lee, Seunggeun
American journal of human genetics, 05/2023, Volume: 110, Issue: 5Journal Article
The ongoing release of large-scale sequencing data in the UK Biobank allows for the identification of associations between rare variants and complex traits. SAIGE-GENE+ is a valid approach to conducting set-based association tests for quantitative and binary traits. However, for ordinal categorical phenotypes, applying SAIGE-GENE+ with treating the trait as quantitative or binarizing the trait can cause inflated type I error rates or power loss. In this study, we propose a scalable and accurate method for rare-variant association tests, POLMM-GENE, in which we used a proportional odds logistic mixed model to characterize ordinal categorical phenotypes while adjusting for sample relatedness. POLMM-GENE fully utilizes the categorical nature of phenotypes and thus can well control type I error rates while remaining powerful. In the analyses of UK Biobank 450k whole-exome-sequencing data for five ordinal categorical traits, POLMM-GENE identified 54 gene-phenotype associations. To analyze rare variants, Bi et al. proposed POLMM-GENE, an approach that is scalable for large-scale sequencing datasets. POLMM-GENE fully utilizes the categorical nature of phenotypes, which avoids inflated type I error rates or power loss. It can identify gene-phenotype associations, providing valuable insights into missing trait heritability.
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