This study performs a large multi-ancestry meta-analysis of IPF genetics, identifying seven novel genome-wide significant loci and highlighting pleiotropy with severe COVID-19 and sex-heterogeneity at the MUC5B locus.

Cell Genomics · Oct 1, 2022Peer-reviewedGenetic & Genomic Medicine

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

Sanni Ruotsalainen, Juulia Partanen, Anna Cichońska, Jake Lin, Christian Benner, Ida L. Surakka, FinnGen, Aarno Palotie, Mark J. Daly, Pharmaceutical companies, Howard J. Jacob, Athena Matakidou, Heiko Runz, Sally John, Robert M. Plenge, , Kari Linden

The paper introduces a multivariate GWAS framework that identifies functional variants and disease associations by transforming multivariate results into univariate phenotypes for follow-up analysis.

European Journal of Human Genetics · Oct 27, 2020Peer-reviewedGenetics

Haploinsufficiency of A20 impairs protein-protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation

Kristiina Rajamäki, Salla Keskitalo, Mikko R. J. Seppänen, Outi Kuismin, Paula Vähäsalo, Luca Trotta, Antti Väänänen, Virpi Glumoff, Paula L. Keskitalo, Riitta L. Kaarteenaho, Airi E. Jartti, Nina Maria Hautala, Päivi Jackson, Dan Nordström, Janna Saarela, , Markku T Varjosalo

This study identifies a novel mutation in A20 causing haploinsufficiency and shows it impairs the protein-protein interactome, leading to enhanced NLRP3 inflammasome activation through caspase-8.

RMD Open · Oct 1, 2018Peer-reviewedMolecular Biology