The Mediterranean region encompasses countries that surround Mediterranean Sea. Due to its position at the intersection of Eurasia and Africa it has often been a route of human migrations during history, which contributed to its high biodiversity. People living in this area had been exposed to the episodes of natural selection that led to the establishment of specific genetic variations, for which is thought to carry a certain adaptation. Some recent studies have shown that genetic adaptations are probably related to the immune defense against infectious pathogens. One of the most recognizable disease of the region is familial Mediterranean fever (FMF), a prototype of a monogenic autoinflammatory disease. FMF is predisposed by the mutations in the Mediterranean fever (MEFV) gene that encodes inflammasome regulatory protein - pyrin. Specific variations of several other genes have been proposed to confer a protection against Plasmodium malariae parasite. Some of these are hemoglobin S (HbS), thalassemia, glucose-6-phosphate dehydrogenase deficiency, ovalocytosis, and mutation in the Duffy antigen (FY). In this chapter we will summarize important genetics and pathogenesis features of diseases commonly encountered in the Mediterranean region with a short discussion of potential adaptations that they may carry.
Part of the book: Genetic Variation