Psoriasis – Genetic theory of development of psoriasis

More and more studies establish a close relationship between the mutations of some genes and psoriasis. Genetic theory of development of psoriasis based study of mutations in the gene CARD14, which trigger inflammatory reactions, which are typical of psoriasis.

Psoriasis is a dermatological disease characterized by formation of swollen spots (papules), which can be integrated into large scaly plaques. With this illness trying to deal with time immemorial, but in our days psoriasis remains an incurable disease. Primarily, this is because until now the exact cause of psoriasis remains unknown. There are many different theories, indirectly proving the role of certain factors in the development of psoriasis, and one of them is the genetic theory of the development of psoriasis. Genetic predisposition to psoriasis is possibly the dominant factor in the realization of this disease.

Rapid flowering of genetics and molecular biology in the second half of the last century has made significant changes to the understanding of the pathogenesis of many diseases. From the genetic profile is largely dependent on the anatomic-functional characteristics of the organism. In the specific case of psoriasis, it has been found that the beginning of the first clinical changes are preceded by persistent violations of metabolic processes in the skin and blood of the patient. With family psoriasis similar changes occur in clinically healthy relatives of the patient. In particular, changes in the metabolism of proteins (mainly enzymes), fats and electrolytes that form a predisposition to the disease, and can be inherited. While psoriasis manifests itself under the influence of external and internal factors. So consider psoriasis as the only genetic diseases. Currently, psoriasis is considered a multifactorial disease with polygenic inheritance, that is, the disease (like diabetes, cancer, schizophrenia, hypertension) inherited quite difficult, and the mechanisms of this inheritance largely remain unclear.

Numerous medical observations was determined the risks of inheritance of psoriasis.

The probability of inheritance of psoriasis

  • If both parents are healthy 4.5 percent.
  • If one parent was sick of 14.5-17%.
  • In 60% of patients with psoriasis have direct relatives with psoriasis.

Some researchers do not exclude the impact of viral infections in the implementation of psoriasis. The virus enters the cells, which leads to mutations in the genome. Transformed (genetically modified) cells acquire new properties, making the body susceptible to the appearance of psoriatic symptoms.

Psoriasis is inherited in an autosomal dominant pattern with incomplete penetrance. Currently already mapped several chromosomal loci determining susceptibility to this disease. The most significant of them is the locus PSORS 1, located between genes MICA and CDSN. In this region are located the genes of the HLA (Human Leukocytes Antigens) group of genes the tissue compatibility of a person. Association of HLA-Cw6 with psoriasis is already proven. Also the relation between the antigens HLA-B13, HLA-B17 and HLA-B27.

In 2012 in the journal The American Journal of Human Genetics published an article in which the authors described the first identified gene responsible for the development of psoriasis. Scientists medical school St. Louis University of Washington found that a rare mutation in the gene CARD14, which is caused by external factors can cause the development of plaque psoriasis. In further studies it was also found that mutations in the gene CARD14 can be associated with pustulary form of the disease, and degenerative arthritis accompanied by psoriasis.

According to scientists, in some cases, only one mutation of the gene CARD14 have enough to symptoms of psoriasis. The researchers found more than 15 different mutations in CARD14, which was found in all investigated 6000 patients with psoriasis. While 4,000 people in the control group (healthy participants), these mutations were not.

The researchers found that mutations in the gene CARD14 increase the activity of the protein factor NF-kappaB in skin cells keratinocytes. In turn, this protein increases the synthesis of several signal molecules, cells, triggering inflammatory reactions, which are typical of psoriasis.

Detection direct connection between psoriasis and gene CARD14 opens scientists and physicians new hope and opportunities to search for a reliable means against this disease.


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