January 17, 2023Open Access

Summary-data based mendelian randomization identifies gene expression regulatory polymorphisms associated with bovine paratuberculosis by modulation of the nuclear factor Kappa β (NF-κß)-mediated inflammatory response

Q: What is the clinical evidence from this study?

Study design: Observational. Population: Bovine paratuberculosis (n=829). Intervention: cis-eQTLs regulating gene expression (EGR4 and MGC134040) vs. Absence of the genetic variant. Primary outcome: Pleiotropic association with the presence of multifocal lesions in gut tissues (EGR4) (SNP effect 0.222, p=0.002).

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Key result

Two novel cis-eQTLs affecting the expression of EGR4 and MGC134040 showed pleiotropic associations with the presence of multifocal and diffuse paratuberculosis lesions in gut tissues (FDR P=0.002 and P=0.017, respectively).

Authors

GBGerard Badia-Bringué MCMaría Canive NFNora Fernández

Discussion

Member takes

Overview

These associations may guide host genetic studies in paratuberculosis; hypothesis-generating and requires independent replication before any translation.

Study Design

Type

Observational (n=829)

Multicenter

Yes

PICO

Population

829 Holstein cows, including 16 for RNA-Seq and 813 for GWAS, classified by the presence or absence of paratuberculosis-associated histopathological lesions in gut tissues.

Exposure / Comparator

cis-eQTLs regulating gene expression (EGR4 and MGC134040) vs Absence of the genetic variant

Primary Outcome

Pleiotropic association with the presence of multifocal lesions in gut tissues (EGR4) — SNP effect 0.222, p=0.002

Main Result

Effect estimate: SNP effect 0.222

p-value: p=0.002

Limitations

Small number of individual samples used in the first part of the study (N=30) for RNA-Seq
Lack of discrimination between focal lesions and controls using GWAS
Further functional studies are needed to evaluate the critical significance of the identified genetic variants

Cite This Study

Badia-Bringué et al. (2023) conducted an observational in Bovine paratuberculosis (n=829). cis-eQTLs regulating gene expression (EGR4 and MGC134040) vs. Absence of the genetic variant was evaluated on Pleiotropic association with the presence of multifocal lesions in gut tissues (EGR4) (SNP effect 0.222, p=0.002). Two novel cis-eQTLs affecting the expression of EGR4 and MGC134040 showed pleiotropic associations with the presence of multifocal and diffuse paratuberculosis lesions in gut tissues (FDR P=0.002 and P=0.017, respectively).

synapsesocial.com/papers/6ab21ae5a9ea7cbecff9329d https://doi.org/10.21203/rs.3.rs-2471714/v1

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January 17, 2023Open Access

Summary-data based mendelian randomization identifies gene expression regulatory polymorphisms associated with bovine paratuberculosis by modulation of the nuclear factor Kappa β (NF-κß)-mediated inflammatory response

View Full Paper

Ask AI

Bookmark

Key result

Authors

GBGerard Badia-Bringué MCMaría Canive NFNora Fernández

Discussion

Member takes

Overview

These associations may guide host genetic studies in paratuberculosis; hypothesis-generating and requires independent replication before any translation.

Study Design

Type

Observational (n=829)

Multicenter

Yes

PICO

Population

829 Holstein cows, including 16 for RNA-Seq and 813 for GWAS, classified by the presence or absence of paratuberculosis-associated histopathological lesions in gut tissues.

Exposure / Comparator

cis-eQTLs regulating gene expression (EGR4 and MGC134040) vs Absence of the genetic variant

Primary Outcome

Pleiotropic association with the presence of multifocal lesions in gut tissues (EGR4) — SNP effect 0.222, p=0.002

Main Result

Effect estimate: SNP effect 0.222

p-value: p=0.002

Limitations

Small number of individual samples used in the first part of the study (N=30) for RNA-Seq
Lack of discrimination between focal lesions and controls using GWAS
Further functional studies are needed to evaluate the critical significance of the identified genetic variants

Cite This Study

synapsesocial.com/papers/6ab21ae5a9ea7cbecff9329d https://doi.org/10.21203/rs.3.rs-2471714/v1

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

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