[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 …
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
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 …
to defend against pathogens, but inadvertent immune system attacks on "self" result in …
Complex genetic signatures in immune cells underlie autoimmunity and inform therapy
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 …
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
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 …
22% are absent from previous sequencing-based compilations and are enriched for …
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis
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 …
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. …
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 …
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 …
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
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 …
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-…
association studies by assessing previously unexplored variation across the common- and low-…