Abstract：
OBJECTIVE: The aim of this study is to investigate the potential genetic etiology of cribra orbitalia noted on human skeletal remains.
METHODS: 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 Devín (11th-12th century AD) and Cífer-Pác (8th-9th century AD).
METHODS: We performed a sequence analysis of 5 variants in 3 genes associated with anemia (HBB, G6PD, PKLR), 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.
CONCLUSIONS: This study seeks to expand our knowledge of the etiology of cribra orbitalia by exploring the potential association between the lesion and the presence of alleles linked to hereditary anemias and lactose intolerance.
CONCLUSIONS: 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.
UNASSIGNED: Genetic research based on larger sample sizes and in more diverse geographical regions.
METHODS: 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 Devín (11th-12th century AD) and Cífer-Pác (8th-9th century AD).
METHODS: We performed a sequence analysis of 5 variants in 3 genes associated with anemia (HBB, G6PD, PKLR), 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.
CONCLUSIONS: This study seeks to expand our knowledge of the etiology of cribra orbitalia by exploring the potential association between the lesion and the presence of alleles linked to hereditary anemias and lactose intolerance.
CONCLUSIONS: 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.
UNASSIGNED: Genetic research based on larger sample sizes and in more diverse geographical regions.
摘要：
目的：这项研究的目的是调查在人类骨骼遗骸上发现的cribra眶的潜在遗传病因。
方法：我们获得并分析了43个患有cribra眶的个体的古代DNA。分析的场景代表了斯洛伐克西部两个墓地的中世纪个体，德文城堡（公元11至12世纪）和Cífer-Pác（公元8至9世纪）。
方法：我们对与贫血相关的3个基因（HBB，G6PD,PKLR)，这是当今欧洲人群中最常见的致病变异，和一个变体MCM6：c.1917+326C>T（rs4988235）与乳糖不耐受相关。
结果：样本中未发现与贫血相关的DNA变异。MCM6:c.1917+326℃的等位基因频率为0.875。与没有病变的个体相比，显示cribra眶的个体的频率更高，但没有统计学意义。
结论：本研究旨在通过探索病变与遗传性贫血和乳糖不耐受相关等位基因的存在之间的潜在关联来扩大我们对cribra眶的病因的认识。
结论：分析了相对较小的一组个体，所以不能得出明确的结论。因此，虽然不太可能,不能排除由罕见变异引起的贫血的遗传形式。
未经鉴定：基于更大样本量和更多不同地理区域的遗传研究。
方法：我们获得并分析了43个患有cribra眶的个体的古代DNA。
方法：我们对与贫血相关的3个基因（HBB，
结果：样本中未发现与贫血相关的DNA变异。
结论：本研究旨在通过探索病变与遗传性贫血和乳糖不耐受相关等位基因的存在之间的潜在关联来扩大我们对cribra眶的病因的认识。
结论：分析了相对较小的一组个体，
未经鉴定：基于更大样本量和更多不同地理区域的遗传研究。
