engleski

Population Structure of Human Isolates and Genetic Epidemiology – Possibilities or Misdirected Orientations?

Population structure investigation in the genetic, demographic and anthropological research is focused toward analyses of the complexity of interactions between the Baker’s components of the “eternal triangle” (heredity, environment and culture) in determining human phenotypes indicating that the isolated populations are an appropriate model for investigating processes of human micro-evolution. Understanding different levels of processes of differentiation in a population with geographically limited mobility, processes of possible selection in a certain biotope and the long-distance population movements through history will be presented using a holistic analytic approach to understand current human groups variability in a limited ecological niche bearing in mind that the historical processes are laboratories in which human populations are created. The discussion of why the isolate island populations in Croatia represent a particularly helpful model for genetic epidemiological studies objectives and strategies, in the aim of a long-term genetic epidemiological research of these populations, will be developed and presented through an example of metabolic syndrome components in a population of interest in the Croatian mainland where the prevalence of the syndrome is among the highest in the area (using WH ratio 54, 12% in males and 45, 08% in females). The assessment of prevalence for specific constituent parts of the metabolic syndrome shows considerable differences. The results of the analyses of complex traits in the latent space allow (in spite of the differences between males and females) to extract five different factors with relatively high value of explained variance (in males 75.5% and females 73.8%), i.e. morphological (obesity) factor (17.7 – 29.8%), physiological (blood pressure) factor (15.2 – 28%), factor of age (9.8 – 10.8%), cholesterol factor (9.1 – 12.8%) and triglyceride and/or fibrinogen factor (7.8 – 8.2%). As the complexity of interactions between intrinsic (hereditary) and extrinsic (environmental and cultural) factors in determining human phenotypes is often underestimated in biomedical research observations, the issue of the necessity of a holistic approach to genetic epidemiology will also be discussed.

population structure; genetic epidemiology; human isolates; metabolic syndrome

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