Corpus overview


MeSH Disease

HGNC Genes

SARS-CoV-2 proteins

There are no SARS-CoV-2 protein terms in the subcorpus


SARS-CoV-2 Proteins
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    Shorter androgen receptor polyQ alleles protect against life-threatening COVID-19 MESHD disease in males.

    Authors: Margherita Baldassarri; Nicola Picchiotti; Francesca Fava; Chiara Fallerini; Elisa Benetti; Sergio Daga; Floriana Valentino; Gabriella Doddato; Simone Furini; Annarita Giliberti; Rossella Tita; Sara Amitrano; Mirella Bruttini; Susanna Croci; Ilaria Meloni; Anna Maria Pinto; Chiara Gabbi; Francesca Sciarra; Mary Anna Venneri; Marco Gori; Maurizio Sanarico; Francis P Crawley; Uberto Pagotto; Flaminia Fanelli; Marco Mezzullo; Elena Dominguez-Garrido; Laura Planas-Serra; Agatha Schluter; Roger Colobran; Pere Soler-Palacin; Pablo Lapunzina; Jair Tenorio; - Spanish Covid HGE; Aurora Pujol; Maria Grazia Castagna; Marco Marcelli; Andrea M Isidori; - GEN-COVID Multicenter Study; Alessandra Renieri; Elisa Frullanti; Francesca Mari

    doi:10.1101/2020.11.04.20225680 Date: 2020-11-05 Source: medRxiv

    Background COVID-19 MESHD presentation ranges from asymptomatic to fatal. The variability in severity may be due in part to impaired Interferon type I response due to specific mutations in the host genome or to autoantibodies, explaining about 15% of the cases when combined. Exploring the host genome is thus warranted to further elucidate disease variability. Methods We developed a synthetic approach to genetic data representation using machine learning methods to investigate complementary genetic variability in COVID-19 MESHD infected MESHD patients that may explain disease severity, due to poly-amino acids repeat polymorphisms. Using host whole-exome sequencing data, we compared extreme phenotypic presentations (338 severe versus 300 asymptomatic cases) of the entire (men and women) Italian GEN-COVID cohort of 1178 subjects infected with SARS-CoV-2. We then applied the LASSO Logistic Regression model on Boolean gene-based representation of the poly-amino acids variability. Findings Shorter polyQ alleles ([≤]22) in the androgen receptor HGNC (AR) conferred protection against a more severe outcome in COVID-19 MESHD infection. In the subgroup of males with age <60 years, testosterone was higher in subjects with AR long-polyQ ([≥]23), possibly indicating receptor resistance (p=0.004 Mann-Whitney U test). Inappropriately low testosterone levels for the long-polyQ alleles predicted the need for intensive care in COVID-19 MESHD infected men. In agreement with the known anti-inflammatory action of testosterone, patients with long-polyQ ([≥]23) and age>60 years had increased levels of C Reactive Protein HGNC (p=0.018). Interpretation Our results may contribute to design reliable clinical and public health measures and provide a rationale to test testosterone treatment as adjuvant therapy in symptomatic COVID-19 MESHD men expressing AR polyQ longer than 23 repeats. Funding MIUR project -Dipartimenti di Eccellenza 2018-2020- to Department of Medical Biotechnologies University of Siena, Italy (Italian D.L. n.18 March 17, 2020). Private donors for COVID research and charity funds from Intesa San Paolo.

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MeSH Disease
HGNC Genes
SARS-CoV-2 Proteins

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