Itziar De Rojas (Spain)
Fundació ACE
Neuroscience Center
Itziar is a background Biochemist and master in Bioinformatics and Biostatistics. She has wide experience in research on neurodegenerative diseases, especially Alzheimer’s disease. His main lines of research focus on the identification of new genetic risk factors of dementia by genome wide association studies in different phenotypes and endophenotypes. She has also contributed to many publications on cognitive decline and even healthy cohort studies. She has the expertise for DNA analysis and the know how to endorse PRS to individuals using genome array datasets and conducting subsequent analyses. Finally, she has 27 publications indexed in JCR journals accrediting her expertise and has participated in 10 nationwide and international genomics consortia.

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GENOMIC CHARACTERIZATION OF HOST FACTORS RELATED TO SARS-COV-2 INFECTION IN PEOPLE WITH DEMENTIA AND CONTROL POPULATIONS: THE GR@ACE/DEGESCO STUDY.

Session Name
1920 - COVID-19 IMPACT ON NEURODEGENERATIVE DISEASES (ID 92)
Session Type
SYMPOSIUM
Date
Sun, 20.03.2022
Session Time
09:05 AM - 10:50 AM
Room
ONSITE: 112
Lecture Time
10:05 AM - 10:20 AM
Presenter

Abstract

Aims

Emerging studies have suggested several chromosomal regions as potential host genetic factors involved in the susceptibility to SARS-CoV-2 infection and disease outcome. We nested a COVID-19 genome-wide association study using the GR@ACE/DEGESCO study searching for susceptibility factors associated with COVID-19 disease.

Methods

To this end, we compared 221 COVID-19 confirmed cases with 17,035 individuals in whom COVID-19 disease status was unknown. Because the APOE locus has been suggested as a potential modifier of COVID-19 disease, we added sensitivity analyses stratifying by dementia status or by disease severity. We then performed a meta-analysis with the publicly available data from the COVID-19 Host Genetics Initiative.

Results

We confirmed the existence of the 3p21.31 region (LZTFL1, SLC6A20, OR=3.03[1.24-7.45], p=0.015) implicated in susceptibility to SARS-CoV-2 infection and TYK2 gene (OR=4.96[2.02-12.20], p=4.85×10-04) might be involved in COVID-19 severity. Meta-analysis supported the existence of other loci previously suggested for susceptibility to SARS-CoV-2 infection. In contrast, we were not be able to observe any evidence of statistically significant association, a compatible point effect nor consistent effect direction in the COVID-19 fatal outcome analysis adjusted by age and dementia status for APOE locus, in the stratified analyses using dementia-only or in non-dementia strata (Figure 1). 20210608_figure1_rev1.jpg

Conclusions

In conclusion, we confirmed the 3p21.31 region (LZTFL1, SLC6A20) and TYK2 gene as a genetic susceptibility locus involved in SARS-CoV-2 infection using an independent Spanish dataset. With COVID-19 HGI meta-analysis other suggested regions were reinforced. In contrast, our Dementia-only GWAS study did not support APOE locus involvement in SARS-CoV-2 pathobiology or COVID-19 prognosis.

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