Population

Population name Freitas
Genome GRCh38
Consortium Universities, Hospitals and Institutes in Portugal
Super population EUR
Population description COVID-19 lab confirmed positive individuals from two hospitals (Santa Maria and Sao Joao hospital)
Population origin Portugal
Case population size 491
Control population size 0
Comorbidities Hypertension (63.1%), diabetes (31.8%) and obesity (23.4%), Vitamin D deficient (63.3%), Vitamin D insufficient (24.4%), disclosure of other diseases included in supplementary data
Mean / median age 69.7 ±15.8
Sex 217 female; 266 male
Severity Severe
Sample source Nasopharyngeal swab
Method Several SNPs from previous GWAS studies (European individuals) that play an important biological role in vitamin D metabolism, transport, degradation, and downstream pathways have been identified to affect Vitamin D levels. To understand if an association exists between the polymorphisms in the vitamin D-related genes and the disease severity, four polygenic risk scores (PRSs) were defined. iPLEX® MassARRAY® system used to assess genotype of patients.
Bioinformatics A polygeneic risk score was estimated for each individual according to their genotype profiles. Statistical tests (Mann–Whitney, Kruskal–Wallis and Spearman rank correlation coefficient) were used to find differences in genetic variants in vitamin D-related genes between COVID-19 patients with different degrees of disease severity.
Imputation details No imputation performed
Limitations Only hospitalized cases assessed