Gabriela Bľandová , Andrea Patlevičová , Jana Palkovičová , Štefánia Pavlíková , Radoslav Beňuš , Vanda Repiská , Marian Baldovič
{"title":"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","authors":"Gabriela Bľandová , Andrea Patlevičová , Jana Palkovičová , Štefánia Pavlíková , Radoslav Beňuš , Vanda Repiská , Marian Baldovič","doi":"10.1016/j.ijpp.2023.02.001","DOIUrl":null,"url":null,"abstract":"<div><h3>Objective</h3><p>The aim of this study is to investigate the potential genetic etiology of cribra orbitalia noted on human skeletal remains.</p></div><div><h3>Materials</h3><p>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).</p></div><div><h3>Methods</h3><p>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 <em>MCM6</em><span>:c.1917 + 326 C>T (rs4988235) associated with lactose intolerance.</span></p></div><div><h3>Results</h3><p>DNA variants associated with anemia were not found in the samples. The allele frequency of <em>MCM6</em>: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.</p></div><div><h3>Significance</h3><p>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.</p></div><div><h3>Limitations</h3><p>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.</p></div><div><h3>Suggestions for Further Research</h3><p>Genetic research based on larger sample sizes and in more diverse geographical regions.</p></div>","PeriodicalId":48817,"journal":{"name":"International Journal of Paleopathology","volume":"41 ","pages":"Pages 1-7"},"PeriodicalIF":1.3000,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Pilot study of correlation of selected genetic factors with cribra orbitalia in individuals from a medieval population from Slovakia\",\"authors\":\"Gabriela Bľandová , Andrea Patlevičová , Jana Palkovičová , Štefánia Pavlíková , Radoslav Beňuš , Vanda Repiská , Marian Baldovič\",\"doi\":\"10.1016/j.ijpp.2023.02.001\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><h3>Objective</h3><p>The aim of this study is to investigate the potential genetic etiology of cribra orbitalia noted on human skeletal remains.</p></div><div><h3>Materials</h3><p>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).</p></div><div><h3>Methods</h3><p>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 <em>MCM6</em><span>:c.1917 + 326 C>T (rs4988235) associated with lactose intolerance.</span></p></div><div><h3>Results</h3><p>DNA variants associated with anemia were not found in the samples. The allele frequency of <em>MCM6</em>: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.</p></div><div><h3>Significance</h3><p>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.</p></div><div><h3>Limitations</h3><p>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.</p></div><div><h3>Suggestions for Further Research</h3><p>Genetic research based on larger sample sizes and in more diverse geographical regions.</p></div>\",\"PeriodicalId\":48817,\"journal\":{\"name\":\"International Journal of Paleopathology\",\"volume\":\"41 \",\"pages\":\"Pages 1-7\"},\"PeriodicalIF\":1.3000,\"publicationDate\":\"2023-06-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International Journal of Paleopathology\",\"FirstCategoryId\":\"89\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1879981723000050\",\"RegionNum\":3,\"RegionCategory\":\"地球科学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"PALEONTOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Paleopathology","FirstCategoryId":"89","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1879981723000050","RegionNum":3,"RegionCategory":"地球科学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"PALEONTOLOGY","Score":null,"Total":0}
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 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.
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.
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