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 |