ArticlePloS one2021
The PPLD has advantages over conventional regression methods in application to moderately sized genome-wide association studies.
Article in PloS one, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed.
- Gene x environment interaction analysis confirms genetic modifier effects on steroid efficacy via TGF-β pathway in Duchenne muscular dystrophy.European journal of human genetics : EJHG · 2026Article
- Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?Nature reviews. Neurology · 2023Review
- A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity.European journal of human genetics : EJHG · 2023Article
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Abstract
In earlier work, we have developed and evaluated an alternative approach to the analysis of GWAS data, based on a statistic called the PPLD. More recently, motivated by a GWAS for genetic modifiers of the X-linked Mendelian disorder Duchenne Muscular Dystrophy (DMD), we adapted the PPLD for application to time-to-event (TE) phenotypes. Because DMD itself is relatively rare, this is a setting in which the very large sample sizes generally assembled for GWAS are simply not attainable. For this reason, statistical methods specially adapted for use in small data sets are required. Here we explore the behavior of the TE-PPLD via simulations, comparing the TE-PPLD with Cox Proportional Hazards analysis in the context of small to moderate sample sizes. Our results will help to inform our approach to the DMD study going forward, and they illustrate several respects in which the TE-PPLD, and by extension the original PPLD, offer advantages over regression-based approaches to GWAS in this context.
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