[HTML][HTML] Overexpression of the cytokine BAFF and autoimmunity risk

…, E Fiorillo, M Zoledziewska… - … England Journal of …, 2017 - Mass Medical Soc
Background Genomewide association studies of autoimmune diseases have mapped hundreds
of susceptibility regions in the genome. However, only for a few association signals has …

[HTML][HTML] Genetic variants regulating immune cell levels in health and disease

…, C Sidore, F Virdis, M Dei, S Lai, M Zoledziewska… - Cell, 2013 - cell.com
The complex network of specialized cells and molecules in the immune system has evolved
to defend against pathogens, but inadvertent immune system attacks on "self" result in …

Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

…, M Zoledziewska, S Sawcer, M Devoto, M Gorospe… - Nature …, 2020 - nature.com
We report on the influence of ~22 million variants on 731 immune cell traits in a cohort of
3,757 Sardinians. We detected 122 significant (P < 1.28 × 10 −11 ) independent association …

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers

…, S Naitza, M Zoledziewska, A Mulas, G Pistis, M Steri… - Nature …, 2015 - nature.com
We report ∼17.6 million genetic variants from whole-genome sequencing of 2,120 Sardinians;
22% are absent from previous sequencing-based compilations and are enriched for …

Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis

S Sanna, M Pitzalis, M Zoledziewska, I Zara, C Sidore… - Nature …, 2010 - nature.com
A genome-wide association scan of ∼6.6 million genotyped or imputed variants in 882
Sardinian individuals with multiple sclerosis (cases) and 872 controls suggested association of …

Low-pass DNA sequencing of 1200 Sardinians reconstructs European Y-chromosome phylogeny

…, M Marcelli, R Cusano, M Oppo, M Zoledziewska… - Science, 2013 - science.org
… Skaletsky for detailed information about sequence blocks on the Y chromosome; M. Uda …
Skaletsky for detailed information about sequence blocks on the Y chromosome; M. Uda and R. …

Ten millennia of hepatitis B virus evolution

…, L Lai, M Zoledziewska, JF Beckett, M Langová… - Science, 2021 - science.org
Hepatitis B virus (HBV) has been infecting humans for millennia and remains a global health
problem, but its past diversity and dispersal routes are largely unknown. We generated …

[HTML][HTML] The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis

…, P Ronco, JFM Wetzels, M Zoledziewska… - Nature …, 2020 - nature.com
Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we
report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 …

[HTML][HTML] A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation

…, M Zoledziewska, C Sidore, I Zara, M Pitzalis… - PLoS …, 2012 - journals.plos.org
Identifying the genes that influence levels of pro-inflammatory molecules can help to
elucidate the mechanisms underlying this process. We first conducted a two-stage genome-wide …

[PDF][PDF] Whole-genome sequencing coupled to imputation discovers genetic signals for anthropometric traits

…, A Tybjaerg-Hansen, A Varbo, M Zoledziewska… - The American Journal of …, 2017 - cell.com
Deep sequence-based imputation can enhance the discovery power of genome-wide
association studies by assessing previously unexplored variation across the common- and low-…