SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

Variability in SARS-CoV-2 susceptibility and COVID-19 disease severity between individuals is partly due to genetic factors. Here, we identify 4 genomic loci with suggestive associations for SARS-CoV-2 susceptibility and 19 for COVID-19 disease severity. Four of these 23 loci likely have an ethnicity-specific component. Genome-wide association study (GWAS) signals in 11 loci colocalize with expression quantitative trait loci (eQTLs) associated with the expression of 20 genes in 62 tissues/cell types (range: 1:43 tissues/gene), including lung, brain, heart, muscle, and skin as well as the digestive system and immune system. We perform genetic fine mapping to compute 99% credible SNP sets, which identify 10 GWAS loci that have eight or fewer SNPs in the credible set, including three loci with one single likely causal SNP. Our study suggests that the diverse symptoms and disease severity of COVID-19 observed between individuals is associated with variants across the genome, affecting gene expression levels in a wide variety of tissue types

A first update on mapping the human genetic architecture of COVID-19

peer reviewe

Cervical Thymic Cyst in an Adult

Cervical thymic cysts (CTCs) are unusual lesions, representing only 1% of cystic cervical masses. Diagnosis of this condition in adults is even rarer. We report a 34-year-old female who presented with asymptomatic progressively growing left-sided neck swelling. Neck ultrasound (US) showed a large cystic lesion with septation, compressing the ipsilateral vessels. Magnetic resonance imaging (MRI) confirmed the US findings. Surgical excision was performed which subsequently showed findings consistent with CTC. CTC in adult is extremely rare, with few reported cases identified in the literature. Thymic gland anomalies in the neck are the consequences of an arrest in the descent of the gland, sequestration of the thymic tissue, or failure of involution. The diagnosis of this condition is rarely done prior to surgical excision. The clinical presentation, radiologic imaging, surgical findings, and histologic appearance are all essential components to make the correct diagnosis of this very rare differential diagnosis of cystic lateral neck swelling

COVID-19 Host Genetics Initiative. A first update on mapping the human genetic architecture of COVID-19

The COVID-19 pandemic continues to pose a major public health threat, especially in countries with low vaccination rates. To better understand the biological underpinnings of SARS-CoV-2 infection and COVID-19 severity, we formed the COVID-19 Host Genetics Initiative1. Here we present a genome-wide association study meta-analysis of up to 125,584 cases and over 2.5 million control individuals across 60 studies from 25 countries, adding 11 genome-wide significant loci compared with those previously identified2. Genes at new loci, including SFTPD, MUC5B and ACE2, reveal compelling insights regarding disease susceptibility and severity.</p