"HLA-C: evolution, epigenetics, and pathological implications in the major histocompatibility complex"

Area of Science:

• Immunogenetics
• Molecular Biology
• Disease Pathogenesis

Background:

• Human Leukocyte Antigen-C (HLA-C) is a key gene in the major histocompatibility complex (MHC).
• HLA-C plays a critical role in immune responses, particularly against viral infections, through interactions with KIR receptors.
• Its involvement in diseases like cancer and autoimmune disorders makes it a significant research target.

Purpose of the Study:

• To review the structure, origin, function, and pathological implications of HLA-C.
• To explore the impact of genetic variations and epigenetic modifications on HLA-C expression and function.
• To identify potential therapeutic targets for HLA-C-associated diseases.

Main Methods:

• Systematic literature review of publications from PubMed, ScienceDirect, Scopus, and Google Scholar over the last decade.
• Analysis of genetic and epigenetic factors influencing HLA-C expression.
• Correlation of HLA-C alterations with disease susceptibility and immune function.

Main Results:

• Genetic variations in HLA-C influence disease susceptibility and resistance.
• The first four exons of HLA-C are prone to epigenetic modifications, potentially leading to gene silencing.
• Altered HLA-C expression is linked to conditions like alopecia areata, psoriasis, and cancer.
• HLA-C dysregulation affects cancer treatment efficacy.

Conclusions:

• The interplay of genetic and epigenetic factors critically regulates HLA-C expression.
• Understanding these regulatory mechanisms is crucial for developing novel prevention and treatment strategies.
• Targeting HLA-C dysregulation holds promise for managing various immune-related diseases and improving cancer therapy.