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Last Posted: Oct 24, 2023
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A gene-by-sex interaction contributes to liver disease susceptibility in women
Nature Medicine, October 2, 2023

From the abstract: "Clinical and population-based cohorts revealed an interaction between the inherited PNPLA3 p.I148M variant and female sex in determining liver disease. Transcriptomic and functional studies showed that the mechanism encompasses ERa-dependent upregulation of PNPLA3 in hepatocytes, highlighting a target for precision medicine therapeutics in cisgender women. "

Improved two-step testing of genome-wide gene–environment interactions
ES Kawagushi et al, Genetic Epidemiology, December 26, 2022

We introduce a new significance-based allocation into bins for Step-2 testing that overcomes the displacement issue and propose a computationally efficient approach to account for multiple testing within bins. Simulation results demonstrate that these simple improvements can provide substantially greater power than current methods under several scenarios. An application to a multistudy collaboration for understanding colorectal cancer reveals a G?×?Sex interaction located near the SMAD7 gene.

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