Genetic Diversity and Health

*Genetic Variation*

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**Chapter 9**

**Abstract**

Adaptation to Mediterranea

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

**Keywords:** familial Mediterranean fever, thalassemia, malaria, hemoglobin S,

The Mediterranean region encompasses the lands surrounding the Mediterranean Sea; on the north there is Southern Europe and Anatolia, on the south North Africa, and on the east the countries of Levant. The Mediterranean region has a specific climate, with mild winters and hot, dry summers, which supports the characteristics of the Mediterranean flora and fauna. The region's location at the intersection of Eurasia and Africa has contributed to the high biodiversity of its inhabitants, including people. Beside climate, this region has historically been

Given the specific environment influences, several important genetic variations occurred and persist in people living in this area. Some of the genetic adaptations carry a certain degree of protection against infectious agents, but at the same time, when in an inadequate genotype, they can cause health disorders. This chapter will describe and discuss the most common types of genetic variations in the Mediterranean area related to adaptation and / or susceptibility to disease.

the most frequent route of human migrations, as it is today.

*Jelena M. Milenković, Dijana R. Stojanović* 

*and Jelena G. Najdanović*

adaptations that they may carry.

**1. Introduction**

Duffy antigen, heterozygote advantage
