Paleogenomic insights into European Neolithic populations and the genetic basis of modern disease risk

Investigations of prehistoric populations through ancient DNA have transformed our understanding of the demographic processes that shaped modern genetic diversity. One of the most profound changes in human prehistory was the advent and spread of agriculture, which defined the Neolithic period and initiated major cultural and biological transformations across Europe. Modern Europeans are largely formed from three primary ancestral components that began to admix during the Neolithic: local hunter-gatherers, incoming Anatolian farmers, and later Steppe herders. With the recent increase in available ancient genomes, it has become clear that these demographic events were not uniform, but instead reflected a mosaic of complex and regionally variable processes. This thesis aimed to contribute to this growing field by addressing three main questions. First, I investigate regional population structure and dynamics for ten selected Neolithic sites across present-day Germany and Russia. Second, I examine the variation in immune genes belonging to the highly polymorphic human leukocyte antigen (HLA) system within these populations and assess how this variation was affected by demographic processes. Third, I explore how ancestral genetic components contribute to present-day variation in immune-related disease risk, with a focus on inflammatory bowel disease (IBD), a major chronic condition in modern Europeans. In this thesis, I demonstrate how the regional demographic complexity of the Neolithic not only shaped patterns of genetic diversity but also influenced immune gene variation and the ancestral contributions to modern disease risk, linking past population dynamics to health outcomes observed today.

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