Related Experiment Video
Updated: May 26, 2026

Modeling Multiple Sclerosis in the Two Sexes: MOG35-55-Induced Experimental Autoimmune Encephalomyelitis
Published on: October 13, 2023
Sex differences and genomics in autoimmune diseases
Shashi Amur1, Ameeta Parekh, Padmaja Mummaneni
1Office of Clinical Pharmacology, Center for Drug Evaluation and Research, Food and Drug Administration, Silver Spring, MD 20903, USA. Shashi.amur@fda.hhs.gov
Autoimmune diseases (AIDs) affect multiple systems, with women disproportionately affected. Genetic factors, including the MHC locus and PTPN22 gene, significantly influence AID susceptibility across diverse populations.
Area of Science:
- Immunology
- Genetics
- Epidemiology
Background:
- Autoimmune diseases (AIDs) are complex, multifactorial conditions impacting multiple organ systems.
- A significant sex bias exists, with approximately 75% of AID patients being female, though this ratio varies by disease.
- Therapeutic responses in AIDs can differ between sexes, highlighting the need for balanced sex representation in clinical trials.
Purpose of the Study:
- To review the multifactorial nature of autoimmune diseases.
- To discuss the impact of sex differences and genetic factors on AID incidence and treatment.
- To emphasize the importance of genetic research in understanding AID pathogenesis and developing targeted therapies.
Main Methods:
- Review of existing literature on autoimmune diseases.
- Analysis of epidemiological data regarding sex distribution in AIDs.
- Examination of genetic association studies, focusing on the Major Histocompatibility Complex (MHC) and non-MHC genes like PTPN22.
Main Results:
- Multiple genetic factors contribute to AID susceptibility, with varying associations across ethnicities.
- The Major Histocompatibility (MHC) locus is a significant genetic risk factor for numerous AIDs.
- Specific non-MHC genes, such as Protein Tyrosine Phosphatase-22 (PTPN22), show reproducible associations with certain AIDs (e.g., SLE, RA, MS, Graves' disease).
Conclusions:
- Understanding the genetic underpinnings and sex-based differences in AIDs is crucial for disease subtyping.
- Identifying risk factors and disease pathways will facilitate the development of more effective and personalized therapeutics for autoimmune diseases.
Related Concept Videos
Autoimmune Disorders
Concept and Mechanism of Autoimmune Diseases
The immune system...
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Pharmacogenomics: Identification of New Drug Targets
The Ratio of X Chromosome to Autosomes
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female Drosophila...
Incomplete Dominance
Pedigree Analysis