Overall, the prevalence of autoimmune diseases in the general population is at least 5%-10%, and they are one of the main causes of premature mortality mainly in young and middle-aged women.

“Autoimmune diseases are multifactorial in their cause, with a mixture of genetic and environmental factors often playing a role. As multifactorial conditions are partly caused by genetic factors, autoimmune diseases tend to run in family members.
“Environmental factors such as viruses or sunlight can trigger an immune response in genetically susceptible individuals,” he says. Mrs. Eleni Komninou, Rheumatologist Director of Autoimmune Rheumatic Diseases Clinic Metropolitan General and continues:

“There are three main groups of genes that are thought to increase the risk of developing autoimmune diseases:

• HLA DR2 is positively associated with systemic lupus erythematosus (SLE), multiple sclerosis, while inversely associated with type I diabetes mellitus
• HLA DR3 is strongly associated with myasthenia gravis, SLE, type I diabetes and Sjögren’s syndrome
• HLA DR4 is strongly associated with type I diabetes mellitus, pemphigus and rheumatoid arthritis.

These genes are associated with various components of the immune system such as: T-lymphocyte receptors, immunoglobulins and major histocompatibility complexes.
T cell receptors and immune globulins – are important in recognizing antigens that the immune system needs to target against the body’s organs and tissues. A notable example is the association between Ankylosing Spondylitis and HLA B27

Autoimmune diseases tend to run frequently in family members, and it is apparent that multiple cases of a single autoimmune disease cluster within families. What’s more impressive is that people in these families have been affected by different autoimmune diseases.”

Gender, heredity and autoimmunity

The vast majority of patients with autoimmune diseases are women, without it being clear why.

“Many hypotheses are based primarily on hormonal and genetic factors, which affect the autoimmune systems of women and men differently.

It is a fact that many of these diseases appear or fluctuate when there are hormonal changes, such as during puberty and pregnancy.

The ratio of women with autoimmune diseases varies by disease: from 18:1 in autoimmune thyroid disease (AITD), to 1:1 in psoriasis (PSO) and 1:2 in ankylosing spondylitis (AS), as well as rheumatoid arthritis etc.

Sex hormones are involved in susceptibility factors for autoimmune diseases by modulating the response by different types of T cells of the immune system.

The impact of hormonal changes on the disease course in women has been documented in pregnancy: the severity of Multiple Sclerosis and Rheumatoid Arthritis has been reported to decrease during pregnancy, while the severity of Systemic Lupus Erythematosus is either worsened or unaffected. during pregnancy” points out Mrs. Komninou.

“Theoretically, X-chromosome inactivation and resulting tissue chimerism may explain the female predisposition to systemic autoimmunity.

In female fetuses, half of their somatic cells express antigens derived from the paternal X and half from the maternal X.

Many proposals have been considered, but none have a fully proven experimental background and are still part of a gender debate.

Genes that contribute to the development of autoimmunity are currently being investigated in animal models of diabetes and Systemic Lupus Erythematosus.

A recent development is that the PTPN22 gene, which codes for protein tyrosine phosphatase, is associated with several autoimmune diseases such as SLE, rheumatoid arthritis, type 1 diabetes, vitiligo, psoriatic arthritis and Graves’ disease,” he adds.

in conclusion

“Improved analytical and experimental techniques raise hopes for clinical applications of autoimmune genetics.

A better understanding of the causative variants that contribute to autoimmune disease pathology could help develop new diagnostic tests for disease risk and, perhaps, biomarkers for disease progression or therapeutic response,” concludes Ms. Komninou.