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Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk

Gelemanović, Andrea ; Ćatipović Ardalić, Tatjana ; Pribisalić, Ajka ; Hayward, Caroline ; Kolčić, Ivana ; Polašek, Ozren

International journal of molecular sciences, 2023-04, Vol.24 (8), p.7006 [Periódico revisado por pares]

Switzerland: MDPI AG

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Título:
Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk
Autor: Gelemanović, Andrea ; Ćatipović Ardalić, Tatjana ; Pribisalić, Ajka ; Hayward, Caroline ; Kolčić, Ivana ; Polašek, Ozren
Assuntos: Communicable Diseases - genetics ; Croatia ; Diseases ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genomes ; Genomics ; Health aspects ; hepatitis ; Humans ; Immune response ; infection ; Medical research ; Medicine, Experimental ; meningitis ; Nuclear Proteins - genetics ; Phenotype ; pneumonia ; rare variant ; Risk Factors ; Trans-Activators - genetics
É parte de: International journal of molecular sciences, 2023-04, Vol.24 (8), p.7006
Notas: ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
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These authors contributed equally to this work.
Descrição: Infectious diseases still threaten global human health, and host genetic factors have been indicated as determining risk factors for observed variations in disease susceptibility, severity, and outcome. We performed a genome-wide meta-analysis on 4624 subjects from the 10,001 Dalmatians cohort, with 14 infection-related traits. Despite a rather small number of cases in some instances, we detected 29 infection-related genetic associations, mostly belonging to rare variants. Notably, the list included the genes CD28, INPP5D, ITPKB, MACROD2, and RSF1, all of which have known roles in the immune response. Expanding our knowledge on rare variants could contribute to the development of genetic panels that could assist in predicting an individual's life-long susceptibility to major infectious diseases. In addition, longitudinal biobanks are an interesting source of information for identifying the host genetic variants involved in infectious disease susceptibility and severity. Since infectious diseases continue to act as a selective pressure on our genomes, there is a constant need for a large consortium of biobanks with access to genetic and environmental data to further elucidate the complex mechanisms behind host-pathogen interactions and infectious disease susceptibility.
Editor: Switzerland: MDPI AG
Idioma: Inglês

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Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk

Gelemanović, Andrea ; Ćatipović Ardalić, Tatjana ; Pribisalić, Ajka ; Hayward, Caroline ; Kolčić, Ivana ; Polašek, Ozren

Switzerland: MDPI AG

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