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

IF 1.3 3区地球科学 Q3 PALEONTOLOGY International Journal of Paleopathology Pub Date : 2023-06-01 DOI:10.1016/j.ijpp.2023.02.001

Gabriela Bľandová , Andrea Patlevičová , Jana Palkovičová , Štefánia Pavlíková , Radoslav Beňuš , Vanda Repiská , Marian Baldovič

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Abstract

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 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.

Significance

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.

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.

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斯洛伐克中世纪人群中选定遗传因素与眶嵴相关性的初步研究

目的探讨人骨遗存眶嵴的潜在遗传原因。我们获得了43个具有眶嵴的个体的古代DNA并进行了分析。所分析的集合代表了来自斯洛伐克西部两个墓地的中世纪个体，城堡Devín(公元11 -12世纪)和Cífer-Pác(公元8 -9世纪)。方法对现今欧洲人群中最常见的3个与贫血相关的基因(HBB、G6PD、plklr)的5个变异和1个MCM6:c的变异进行了序列分析。1917 + 326 C>T (rs4988235)与乳糖不耐症有关。结果在样本中未发现与贫血相关的dna变异。MCM6的等位基因频率为:c。1917 + 326℃= 0.875。与没有病变的人相比，有眶缘的人这个频率更高，但没有统计学意义。本研究旨在通过探索与遗传性贫血和乳糖不耐症相关的等位基因的存在与眶缘病变之间的潜在关联，扩大我们对眶缘病因学的认识。局限性由于只分析了相对较少的个体，因此无法得出明确的结论。因此，尽管不太可能，但不能排除由罕见变异引起的遗传性贫血。进一步研究建议:基于更大样本量和更多样化地理区域的遗传研究。

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来源期刊

International Journal of Paleopathology PALEONTOLOGY-PATHOLOGY

CiteScore

2.90

自引率

25.00%

发文量

期刊介绍： Paleopathology is the study and application of methods and techniques for investigating diseases and related conditions from skeletal and soft tissue remains. The International Journal of Paleopathology (IJPP) will publish original and significant articles on human and animal (including hominids) disease, based upon the study of physical remains, including osseous, dental, and preserved soft tissues at a range of methodological levels, from direct observation to molecular, chemical, histological and radiographic analysis. Discussion of ways in which these methods can be applied to the reconstruction of health, disease and life histories in the past is central to the discipline, so the journal would also encourage papers covering interpretive and theoretical issues, and those that place the study of disease at the centre of a bioarchaeological or biocultural approach. Papers dealing with historical evidence relating to disease in the past (rather than history of medicine) will also be published. The journal will also accept significant studies that applied previously developed techniques to new materials, setting the research in the context of current debates on past human and animal health.