Pilot study of correlation of selected genetic factors with cribra orbitalia in individuals from a medieval population from Slovakia

Objective: The aim of this study is to investigate the potential genetic etiology of cribra orbitalia noted on human skeletal remains. Materials: We obtained and analyzed ancient DNA of 43 individuals with cribra orbitalia. The analyzed set represented medieval individuals from two cemeteries in western Slovakia, Castle Devin (11th-12th century AD) and Cifer-P acute accent ac (8th-9th century AD).Methods: We performed a sequence analysis of 5 variants in 3 genes associated with anemia (HBB, G6PD, PO), which are the most common pathogenic variants in present day of European populations, and one variant MCM6: c.1917 + 326 C>T (rs4988235) associated with lactose intolerance.Results: DNA variants associated with anemia were not found in the samples. The allele frequency of MCM6: c.1917 + 326 C was 0.875. This frequency is higher but not statistically significant in individuals displaying cribra orbitalia compared to individuals without the lesion. Significance: This study seeks to expand our knowledge of the etiology of cribra orbitalia by exploring the po-tential association between the lesion and the presence of alleles linked to hereditary anemias and lactose intolerance.Limitations: A relatively small set of individuals were analyzed, so an unequivocal conclusion cannot be drawn. Hence, although it is unlikely, a genetic form of anemia caused by rare variants cannot be ruled out. Suggestions for Further Research: Genetic research based on larger sample sizes and in more diverse geographical regions.