Genetic studies in ME/CFS to investigate the potential involvement of the immune system and reveal biomarker

About

Status:

Completed

Principal investigator:

Benedicte Alexandra Lie

Country:

Norway

Study start:

2016-12

Completion (planned):

2021-01

Last update:

2025-07-20

Research types:

Basic research

Research areas:

Immune system dysfunction, Genetic risk factors

Interventions:

Not applicable

Priv. Sector Partner:

Not available

Sponsors:

The Research Council of Norway

Links

Project website

Project description

In this study, the investigators aim to study the etiology of ME/CFS by building on their expertise in immunogenetics of autoimmune diseases, as well as their ongoing studies of classical human leukocyte antigen (HLA) genes regarding the predisposition to ME/CFS. The investigators have a large and clinically well-characterised patient population (almost 500 cases) where the preliminary results show a significant HLA association. A HLA association is one of the characteristic features of autoimmune diseases, which motivates further immunogenetic studies on ME/CFS. Initially, the project team will dissect the primary genetic determinants across the human major histocompatibility complex, which harbors hundreds of immunologically important genes.

Furthermore, the team will test for association of all known autoimmune risk genes to address their involvement in ME/CFS pathogenesis, as well as pointing out the immunological and biological pathways implicated, and examine the overlap with the risk profile between ME/CFS and well-established autoimmune diseases. Finally, the investigators will genetically examine the receptor for HLA on T cells, namely the T Cell Receptor Alpha Locus (TRA) gene and the role in the predisposition to ME/CFS, both individually and in interaction with their HLA ligands. All genetic findings will be linked to clinical information to see if the genetic risk variants are involved in a specific subgroup of patients.

The research will take place in a genetic research team that has decades of experience in similar studies in a variety of autoimmune diseases. The team has previously systematically mapped the responsible genes in the HLA complex and elsewhere in the genome to diseases such as type 1 diabetes, multiple sclerosis and primary sclerosing cholangitis. The results of these genetic studies will gain insight into biological pathway, pathologic cell types and clinical subphenotypes of ME/CFS, and potentially identify useful biomarkers.

Description adapted from project website: see link above.