Key result
Mendelian randomization links two novel cis-eQTLs affecting EGR4 and MGC134040 to multifocal and diffuse gut lesions.
Why the study?
Most GWAS-identified SNPs associated with paratuberculosis susceptibility are in non-coding regions, and connecting these variants to affected genes remains challenging with few functional mutations or cis-eQTLs identified.
Population
16 Spanish Holstein cows for eQTL analysis and 813 culled cattle classified by PTB-associated gut lesions
Comparison
Integration of cis-eQTL dataset with GWAS data using summary-based Mendelian randomization
Design
Genomic and transcriptomic analysis with summary-data based Mendelian randomization
Authors
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These eQTL associations are hypothesis-generating; leaves open validation of EGR4/MGC134040 effects before clinical consideration.
p-value: p=0.002
The study identifies novel regulatory SNPs and gene targets (EGR4 and MGC134040) associated with bovine paratuberculosis susceptibility, highlighting the role of NF-κß-mediated inflammatory response.
Badia-Bringué et al. (2023) studied Bovine paratuberculosis (n=813). cis-eQTLs regulating EGR4 and MGC134040 expression vs. Absence of specific cis-eQTL variants was evaluated on Pleiotropic association with the presence of multifocal and diffuse lesions in gut tissues (p=0.002). Summary-based Mendelian randomization identified two novel cis-eQTLs affecting the expression of EGR4 and MGC134040 that showed pleiotropic associations with the presence of multifocal (P=0.002) and diffuse (P=0.017) gut lesions.