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Genome-wide association study identifies several loci for HEV seropositivity
Maria K Smatti1, Yasser A Al-Sarraj1,2, Omar Albagha1,3
1College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
Iscience
|September 4, 2023
Summary
Genetic factors influence Hepatitis E virus (HEV) infection. A genome-wide study in Qatar identified a specific genetic variant associated with anti-HEV antibody levels, potentially impacting antiviral responses.
Area of Science:
- Genetics
- Immunology
- Virology
Background:
- Hepatitis E virus (HEV) infection presents a significant global health challenge.
- Observed variations in HEV infection prevalence across ethnic groups suggest a role for host genetics.
- Understanding genetic predispositions is crucial for managing HEV burden.
Purpose of the Study:
- To investigate host genetic polymorphisms associated with anti-HEV antibody positivity and levels.
- To identify specific genetic loci influencing the immune response to HEV infection.
- To explore the genetic underpinnings of HEV serological marker variability.
Main Methods:
- Conducted genome-wide association studies (GWAS) for binary and quantitative traits.
- Analyzed a large population cohort from Qatar (n=5829).
- Utilized gene-set and pathway enrichment analyses to interpret genetic findings.
Main Results:
- Identified a significant genetic locus at 12p11.1 (lead SNP: rs559856097, allele A) associated with anti-HEV antibody levels (p=2.3×10⁻¹⁰).
- The associated intergenic variant is located near the small nucleolar RNA gene SNORD112.
- Pathway analysis revealed strong correlations with antiviral response pathways, including interferon (IFN) and interleukin-21 (IL-21) signaling.
Conclusions:
- This study presents the first GWAS on HEV infection response.
- A novel genetic locus influencing anti-HEV antibody levels has been identified.
- Further research, including replication and functional studies, is necessary to confirm these findings and elucidate their biological mechanisms.
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