المؤلفون: Ramazan Tunc, Cemal Gurkan, Serkan Dogan, Nihad Ahmed Ameen, Damir Marjanović, Mustafa Dogan, Damla Kanliada Demirdov, Hasan Emin Balkaya

المصدر: PLoS ONE, Vol 12, Iss 11, p e0187408 (2017)
PLoS ONE

مصطلحات موضوعية: 0301 basic medicine, Male, Heredity, Arabic People, Ethnic group, lcsh:Medicine, 030105 genetics & heredity, Iran, Haplogroup, Geographical Locations, Ethnicity, Sumerian, Ethnicities, lcsh:Science, Phylogeny, education.field_of_study, Multidisciplinary, Middle East, Ecology, Mosaicism, Turkey (Country), Genealogy, Europe, Genetic Mapping, Geography, Iraq, language, Research Article, Asia, Ecological Metrics, Population, Context (language use), 03 medical and health sciences, Molecular anthropology, Mesopotamia, Kurdish People, Genetics, Humans, Northern Iraqi Arabs, Kurds, Syriacs, Turkmens and Yazidis, Y chromosome, haplogroup, education, Evolutionary Biology, Chromosomes, Human, Y, Population Biology, Ecology and Environmental Sciences, lcsh:R, Biology and Life Sciences, Species Diversity, language.human_language, 030104 developmental biology, Haplotypes, People and Places, Haplogroups, Population Groupings, lcsh:Q, Population Genetics, Microsatellite Repeats

الوصف: Widely considered as one of the cradles of human civilization, Mesopotamia is largely situated in the Republic of Iraq, which is also the birthplace of the Sumerian, Akkadian, Assyrian and Babylonian civilizations. These lands were subsequently ruled by the Persians, Greeks, Romans, Arabs, Mongolians, Ottomans and finally British prior to the independence. As a direct consequence of this rich history, the contemporary Iraqi population comprises a true mosaic of different ethnicities, which includes Arabs, Kurds, Turkmens, Assyrians, and Yazidis among others. As such, the genetics of the contemporary Iraqi populations are of anthropological and forensic interest. In an effort to contribute to a better understanding of the genetic basis of this ethnic diversity, a total of 500 samples were collected from Northern Iraqi volunteers belonging to five major ethnic groups, namely: Arabs (n = 102), Kurds (n = 104), Turkmens (n = 102), Yazidis (n = 106) and Syriacs (n = 86). 17-loci Y-STR analyses were carried out using the AmpFlSTR Yfiler system, and subsequently in silico haplogroup assignments were made to gain insights from a molecular anthropology perspective. Systematic comparisons of the paternal lineages of these five Northern Iraqi ethnic groups, not only among themselves but also in the context of the larger genetic landscape of the Near East and beyond, were then made through the use of two different genetic distance metric measures and the associated data visualization methods. Taken together, results from the current study suggested the presence of intricate Y- chromosomal lineage patterns among the five ethic groups analyzed, wherein both interconnectivity and independent microvariation were observed in parallel, albeit in a differential manner. Notably, the novel Y-STR data on Turkmens, Syriacs and Yazidis from Northern Iraq constitute the first of its kind in the literature. Data presented herein is expected to contribute to further population and forensic investigations in Northern Iraq in particular and the Near East in general.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef667f5c8a2d97108f19f6d20e729661Test
http://europepmc.org/articles/PMC5669434?pdf=renderTest

المؤلفون: Damir Marjanović, Jasmin Ramić, Anesa Ahatović, Amela Pilav, Sanin Haverić, B A Mirela Džehverović, Jasmina Čakar

مصطلحات موضوعية: DNA identification, floods, forensic science, landslides, skeletal remains, Dna identification, Archaeology, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Geography, DNA profiling, Reference sample, Evolutionary biology, Genetics, Statistical analysis, 030216 legal & forensic medicine, 030212 general & internal medicine

الوصف: The floods in Bosnia and Herzegovina in May 2014 caused landslides all over the country. In the small village of Serici, near the town of Zenica, a landslide destroyed the local cemetery, relocated graves, and commingled skeletal remains. As the use of other physical methods of identification (facial recognition, fingerprint analysis, dental analysis, etc.) was not possible, DNA analysis was applied. DNA was isolated from 20 skeletal remains (bone and tooth samples) and six reference samples (blood from living relatives) and amplified using PowerPlex® Fusion and PowerPlex® Y23 kits. DNA profiles were generated for all reference samples and 17 skeletal remains. A statistical analysis (calculation of paternity, maternity, and sibling indexes and matching probabilities) resulted in 10 positive identifications. In this study, 5 individuals were identified based on one reference sample. This has once again demonstrated the significance of DNA analysis in resolving the most complicated cases, such as the identification of commingled human skeletal remains.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18d97ede9db3f54ec7639ee61d325098Test
https://www.bib.irb.hr/885609Test

المؤلفون: Mahmutbegovic Nevena, Mahmutbegovic Emir, Pawińska-Matecka Anna, Serkan Dogan, Czerska Ewa, Damir Marjanović, Edin Medjedovic, Adler Grażyna

المصدر: IFMBE Proceedings ISBN: 9789811041655

مصطلحات موضوعية: medicine.medical_specialty, Pregnancy, business.industry, Buccal swab, Heterozygote advantage, medicine.disease, Thrombophilia, Gastroenterology, medicine.anatomical_structure, Internal medicine, Placenta, Relative risk, Genotype, medicine, Allele, business

الوصف: The 1691G>A FV polymorphism is considered to be one of the leading genetic risk factors of pregnancy loss. Recently, also other heritable factors of thrombophilia that may predispose to microthrombosis mainly in trophoblast or placenta leading to obstetrical complications attract an attention. In recent studies it was found that both, 1691G>A FV and 4070 A>G FV polymorphisms may increase risk of pregnancy loss, and double heterozygosity for 1691G>A FV and 4070A>G FV conferred a 3- to 4-fold increase in the relative risk of venous thromboembolism compared with 1691G>A FV alone. Aim: We decided to determine the prevalence of 1691G>A FV (rs6025) and 4070A>G FV (rs1800595) polymorphisms in women with pregnancy loss, as well as in women without previous miscarriages. Another aim was to determine the possible association between 1691G>A and 4070A>G FV polymorphisms and a risk of pregnancy loss. Material and methods: Based on medical history, 154 women, mean age 33.0 (±5.4) years, that had one or more spontaneous pregnancy loss and 154 women without previous pregnancy loss with at least one live-born child, mean age 31.4 (±6.7) years were enrolled. Following DNA isolation from buccal swabs, real-time PCR for 1691G>A FV and PCR-RFLP for 4070A>G FV were done. Results: In woman with pregnancy loss we identified: 142 GG homozygotes, 12 GA heterozygotes and none AA homozygotes of 1691G>A FV, and 125 AA homozygotes, 27 AG heterozygotes and 2 GG homozygotes of 4070A>G FV, while in controls 142 GG homozygotes, 12 GA heterozygotes and none AA homozygotes of 1691G>A FV and 123 AA homozygotes, 28 AG heterozygotes and 3 GG homozygotes of 4070A>G FV. The prevalence of 1691G>A and 4070A>G FV polymorphisms are consistent with data for other European populations. We observed coinheritance mutated alleles 1691A and 4070G in 3 women with pregnancy loss, but it was not statistically significant compared to the control group,(p>0.05. We did not observe any differences in the prevalence of the genotypes and frequency of alleles in women with pregnancy loss compared to women without pregnancy loss, (p>0.05). Conclusion: Our results, did not confirm association between the prevalence of 1691G>A and 4070A>G FV and pregnancy loss in Bosnian women.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e1abc144f6b64882c9deece44a590aeTest

المؤلفون: Osman Sinanović, Nenad Jakšić, Damir Marjanović, Nada Bozina, Sabina Kucukalic, Abdulah Kucukalic, Shpend Haxhibeqiri, N. Kravić, Valdete Haxhibeqiri, Mirnesa Muminovic Umihanic, Marko Pavlović, Miro Jakovljević, Romana Babić, Aferdita Goci Uka, Branka Aukst-Margetić, Ana Cima Franc, Bodo Warrings, Blerina Hoxha, Emina Sabic Dzananovic, Alma Dzubur-Kulenovic, Dragan Babić, Christiane Ziegler, Dusko Rudan, Katharina Domschke, Esmina Avdibegović, Elma Feric Bojic, Jürgen Deckert, Ferid Agani, Christiane Wolf, Alma Bravo Mehmedbasic, Miriam A. Schiele

المصدر: International Journal of Neuropsychopharmacology

مصطلحات موضوعية: Proband, Oncology, Adult, Male, medicine.medical_specialty, Croatia, Kosovo, CAPS, DNA methylation, MAOA, PTSD, epigenetics, Severity of Illness Index, Regular Research Articles, behavioral disciplines and activities, Epigenesis, Genetic, Stress Disorders, Post-Traumatic, 03 medical and health sciences, 0302 clinical medicine, Sex Factors, Antiadrenergic agent, Internal medicine, mental disorders, medicine, Humans, Pharmacology (medical), Monoamine Oxidase, Pharmacology, Bosnia and Herzegovina, biology, Methylation, Middle Aged, 030227 psychiatry, Psychiatry and Mental health, Posttraumatic stress, Monoamine Oxidase A Gene, biology.protein, Female, Monoamine oxidase A, Psychology, 030217 neurology & neurosurgery, South eastern, Clinical psychology

الوصف: Background Posttraumatic stress disorder is characterized by an overactive noradrenergic system conferring core posttraumatic stress disorder symptoms such as hyperarousal and reexperiencing. Monoamine oxidase A is one of the key enzymes mediating the turnover of noradrenaline. Here, DNA methylation of the monoamine oxidase A gene exonI/intronI region was investigated for the first time regarding its role in posttraumatic stress disorder risk and severity. Methods Monoamine oxidase A methylation was analyzed via direct sequencing of sodium bisulfite-treated DNA extracted from blood cells in a total sample of N=652 (441 male) patients with current posttraumatic stress disorder, patients with remitted posttraumatic stress disorder, and healthy probands (comparison group) recruited at 5 centers in Bosnia-Herzegovina, Croatia, and the Republic of Kosovo. Posttraumatic stress disorder severity was measured by means of the Clinician-Administered Posttraumatic Stress Disorder Scale and its respective subscores representing distinct symptom clusters. Results In the male, but not the female sample, patients with current posttraumatic stress disorder displayed hypermethylation of 3 CpGs (CpG3=43656362; CpG12=43656514; CpG13=43656553, GRCh38.p2 Assembly) as compared with remitted Posttraumatic Stress Disorder patients and healthy probands. Symptom severity (Clinician-Administered Posttraumatic Stress Disorder Scale scores) in male patients with current posttraumatic stress disorder significantly correlated with monoamine oxidase A methylation. This applied particularly to symptom clusters related to reexperiencing of trauma (cluster B) and hyperarousal (cluster D). Conclusions The present findings suggest monoamine oxidase A gene hypermethylation, potentially resulting in enhanced noradrenergic signalling, as a disease status and severity marker of current posttraumatic stress disorder in males. If replicated, monoamine oxidase A hypermethylation might serve as a surrogate marker of a hyperadrenergic subtype of posttraumatic stress disorder guiding personalized treatment decisions on the use of antiadrenergic agents.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e0e958369719b1f8e4fee466af09060Test
https://doi.org/10.1093/ijnp/pyx111Test

المؤلفون: Jelena Šarac, Dubravka Havaš Auguštin, Damir Marjanović, Natalija Novokmet, Ene Metspalu, Anton Glasnović, Maere Reidla, Svjetlana Cvjetan, Richard Villems, Branimir Nevajda, Saša Missoni, Lejla Kovacevic, Ana Perinić Lewis, Tena Šarić, Pavao Rudan, Nina Jeran, Maruška Vidovič

المصدر: Annals of Human Genetics. 78:178-194

مصطلحات موضوعية: 0303 health sciences, Mitochondrial DNA, Genetic diversity, education.field_of_study, Demographic history, Haplotype, Population, Haplogroup, Gene flow, 03 medical and health sciences, 0302 clinical medicine, Geography, Evolutionary biology, Genetics, 030216 legal & forensic medicine, education, Genetic isolate, Genetics (clinical), 030304 developmental biology

الوصف: High mtDNA variation in Southeastern Europe (SEE) is a reflection of the turbulent and complex demographic history of this area, influenced by gene flow from various parts of Eurasia and a long history of intermixing. Our results of 1035 samples (488 from Croatia, 239 from Bosnia and 130 from Herzegovina, reported earlier, and 97 Slovenians and 81 individuals from Žumberak, reported here for the first time) show that the SEE maternal genetic diversity fits within a broader European maternal genetic landscape. The study also shows that the population of Žumberak, located in the continental part of Croatia, developed some unique mtDNA haplotypes and elevated haplogroup frequencies due to distinctive demographic history and can be considered a moderate genetic isolate. We also report seven samples from the Bosnian population and one Herzegovinian sample designated as X2* individuals that could not be assigned to any of its sublineages (X2a'o) according to the existing X2 phylogeny. In an attempt to clarify the phylogeny of our X2 samples, their mitochondrial DNA has been completely sequenced. We suppose that these lineages are signs of local microdifferentiation processes that occurred in the recent demographic past in this area and could possibly be marked as SEE-specific X2 sublineages.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6e432e9ed4a0a56bc4a598bec6266b15Test
https://doi.org/10.1111/ahg.12056Test

المؤلفون: Naris Pojskić, Rifat Hadziselimovic, Gabrijela Radosavljevic, Damir Marjanović, Lejla Kapur-Pojskić

المصدر: Genetika, Vol 46, Iss 1, Pp 209-218 (2014)

مصطلحات موضوعية: Genetics, education.field_of_study, Mitochondrial DNA, lcsh:QH426-470, HVS1 motif, Population, Haplotype, Buccal swab, Population genetics, population structure, Plant Science, Biology, Haplogroup, Nucleotide diversity, lcsh:Genetics, haplogroups, Genetic structure, human mtDNA diversity, education, human activities

الوصف: Being a crossroad of many ancient and recent historical migrations, Bosnia and Herzegovina (B&H) represents unique spot of multicultural and social diversity. The main aim of this study was to assess genetic structure of three local populations of mountain area from central part of B&H using mtDNA HVS-1 as an informative marker for population genetics studies. A 444 bp HVS-1 segment of control region of mtDNA extracted from buccal swabs was PCR amplified and sequenced. Haplotype and nucleotide diversity, average number of nucleotide differences, AMOVA and pairwise FST based on mtDNA haplotype and haplogroup frequencies were calculated. NJ tree was constructed based on pairwise FST results. Tajima?s D was calculated to evaluate population demographic status.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::166e299a7c5548474101579906da469dTest
https://doi.org/10.2298/gensr1401209kTest

المؤلفون: N. V. Ekomasova, Elza Khusnutdinova, Andrea Bamberg Migliano, Vedrana Škaro, Georgi Hudjashov, L. A. Atramentova, Murray P. Cox, Evelin Mihailov, Marta Mirazón Lahr, Mait Metspalu, Herawati Sudoyo, Monika Karmin, Alexia Cardona, Florin Mircea Iliescu, Melissa A. Wilson Sayres, Bayazit Yunusbayev, Dilbar Dalimova, Boris Malyarchuk, Michael D. Petraglia, Rita Khusainova, Grigor Zoraqi, Mark G. Thomas, Gazi Nurun Nahar Sultana, Irina Evseeva, Kuvat T. Momynaliev, François-Xavier Ricaut, Jainagul Isakova, A. S. Karunas, Reedik Mägi, Joseph Lachance, Kristiina Tambets, Lejla Mulahasanovic, Elena Balanovska, S M Abdullah, Levon Yepiskoposyan, Oleg Balanovsky, Nicolas Brucato, Yali Xue, Lauri Saag, Andrea Manica, Christina A. Eichstaedt, Mario Mitt, Florian Clemente, Ene Metspalu, Sardana A. Fedorova, Chris Tyler-Smith, Andres Metspalu, Charlotte E. Inchley, Pagbajabyn Nymadawa, Matthew Leavesley, Marina Gubina, Guy S. Jacobs, David M. Lambert, Craig Muller, Thierry Letellier, Elvira Pocheshkhova, Qasim Ayub, Joseph Wee, Pascale Gerbault, Zhaxylyk Sabitov, Doron M. Behar, Nikolay A. Barashkov, Dragan Primorac, Christiana L. Scheib, Tiago Antao, Evelyn Jagoda, Olga Utevska, Jeffrey D. Wall, Sarah A. Tishkoff, Toomas Kivisild, Gyaneshwer Chaubey, Shahlo Turdikulova, Eske Willerslev, Alena Kushniarevich, Lehti Saag, Chandana Basu Mallick, I. M. Khidiyatova, Ludmila P. Osipova, Alexander Mörseburg, Hovhannes Sahakyan, Damir Marjanović, Larisa Damba, Richard Villems, Anders Eriksson, Miroslava Derenko, Sergei Litvinov, Daniel Lawson, Rasmus Nielsen, V. L. Akhmetova, Maru Mormina, Mari Järve, Luca Pagani, George Andriadze, Michael DeGiorgio, Mikhail Voevoda, Daria V. Lichman, Michael C. Westaway, Sarah Kaewert

المساهمون: Wellcome Trust Genome Campus, The Wellcome Trust Sanger Institute [Cambridge], Human Evolution, University of Pennsylvania [Philadelphia], Institute of Molecular Biology and Medicine, International Network for the Sequencing of resPIRratory vIrusEs (INSPIRE), Department of Oncology, Human Genetics, Physiopathologie mitochondriale, Université Bordeaux Segalen - Bordeaux 2-Institut National de la Santé et de la Recherche Médicale (INSERM), Leverhulme Centre for Human Evolutionary Studies University of Cambridge, University of Cambridge [UK] (CAM), The Estonian Genome Center, University of Tartu, Institute of Cytology and Genetics, Russian Academy of Sciences [Moscow] (RAS), School of Archaeology, University of Oxford [Oxford], Russian Academy of Medical Sciences, Institute of Biochemistry and Genetics [Bashkortostan Republic, Russia], Russian Academy of Sciences / Ufa Scientific Centre [Bashkortostan Republic, Russia]], Dept Integrat Biol, UMR 6578 : Anthropologie Bio-Culturelle (UAABC), Université de la Méditerranée - Aix-Marseille 2-Centre National de la Recherche Scientifique (CNRS), Section for GeoGenetics, Globe Institute, Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (KU)-University of Copenhagen = Københavns Universitet (KU)-Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (KU)-University of Copenhagen = Københavns Universitet (KU), Swedish Institute of Space Physics [Uppsala] (IRF), University of Pennsylvania, University of Oxford, University of Copenhagen = Københavns Universitet (UCPH)-University of Copenhagen = Københavns Universitet (UCPH)-Faculty of Health and Medical Sciences, University of Copenhagen = Københavns Universitet (UCPH)-University of Copenhagen = Københavns Universitet (UCPH), Eriksson, Anders [0000-0003-3436-3726], Cardona, Alexia [0000-0002-7877-5565], Scheib, Christiana [0000-0003-4158-8296], Jacobs, Guy [0000-0002-4698-7758], Mirazon Lahr, Marta [0000-0001-5752-5770], Manica, Andrea [0000-0003-1895-450X], Willerslev, Eske [0000-0002-7081-6748], Kivisild, Toomas [0000-0002-6297-7808], Apollo - University of Cambridge Repository

المصدر: Nature, vol 538, iss 7624
Nature
Nature, Nature Publishing Group, 2016, 538 (7624), pp.238-242. ⟨10.1038/nature19792⟩
Pagani, L, Lawson, D J, Jagoda, E, Mörseburg, A, Eriksson, A, Mitt, M, Clemente, F, Hudjashov, G, Degiorgio, M, Saag, L, Wall, J D, Cardona, A, Mägi, R, Sayres, M A W, Kaewert, S, Inchley, C, Scheib, C L, Järve, M, Karmin, M, Jacobs, G S, Antao, T, Iliescu, F M, Kushniarevich, A, Ayub, Q, Tyler-smith, C, Xue, Y, Yunusbayev, B, Tambets, K, Mallick, C B, Saag, L, Pocheshkhova, E, Andriadze, G, Muller, C, Westaway, M C, Lambert, D M, Zoraqi, G, Turdikulova, S, Dalimova, D, Sabitov, Z, Sultana, G N N, Lachance, J, Tishkoff, S, Momynaliev, K, Isakova, J, Damba, L D, Gubina, M, Nymadawa, P, Evseeva, I, Atramentova, L & Utevska, O 2016, ' Genomic analyses inform on migration events during the peopling of Eurasia ', Nature, vol. 538, no. 7624, pp. 238-242 . https://doi.org/10.1038/nature19792Test
Pagani, L, Lawson, D J, Jagoda, E, Mörseburg, A, Eriksson, A, Mitt, M, Clemente, F, Hudjashov, G, Degiorgio, M, Saag, L, Wall, J D, Cardona, A, Mägi, R, Sayres, M A W, Kaewert, S, Inchley, C, Scheib, C L, Järve, M, Karmin, M, Jacobs, G S, Antao, T, Iliescu, F M, Kushniarevich, A, Ayub, Q, Tyler-Smith, C, Xue, Y, Yunusbayev, B, Tambets, K, Mallick, C B, Pocheshkhova, E, Andriadze, G, Muller, C, Westaway, M C, Lambert, D M, Zoraqi, G, Turdikulova, S, Dalimova, D, Sabitov, Z, Sultana, G N N, Lachance, J, Tishkoff, S, Momynaliev, K, Isakova, J, Damba, L D, Gubina, M, Nymadawa, P, Evseeva, I, Atramentova, L & Utevska, O & Ricaut, F X 2016, ' Genomic analyses inform on migration events during the peopling of Eurasia ', Nature, vol. 538, no. 7624, pp. 238-242 . https://doi.org/10.1038/nature19792Test
Nature, 2016, 538 (7624), pp.238-242. ⟨10.1038/nature19792⟩
Pagani, L, Lawson, D, Jagoda, E, Morseburg, A, Eriksson, A, Mitt, M, Kivisild, T & Metspalu, M 2016, ' Genomic analyses inform on migration events during the peopling of Eurasia ', Nature, vol. 538, no. 7624, pp. 238-242 . https://doi.org/10.1038/nature19792Test

مصطلحات موضوعية: 0301 basic medicine, History, Native Hawaiian or Other Pacific Islander, Biological anthropology, [SHS.ANTHRO-BIO]Humanities and Social Sciences/Biological anthropology, Population Dynamics, Datasets as Topic, Evolutionary biology, Balancing selection, Genome, genome, peopling, Eurasia, 0302 clinical medicine, Effective population size, History, Ancient, Neanderthals, Genetics, education.field_of_study, Multidisciplinary, Continental Population Groups, Human migration, Fossils, Medicine (all), Genomics, 3. Good health, Europe, Oceanic Ancestry Group, Human, Biotechnology, Estonia, Gene Flow, Genome evolution, Heterozygote, Asia, General Science & Technology, 1.1 Normal biological development and functioning, Human Migration, Population, Biology, Evolutionary genetics, Article, Ancient, Africa, Animals, Genetics, Population, Genome, Human, Humans, New Guinea, 03 medical and health sciences, education, business.industry, Human evolutionary genetics, Racial Groups, Human Genome, 030104 developmental biology, Generic health relevance, business, 030217 neurology & neurosurgery

الوصف: High-coverage whole-genome sequence studies have so far focused on a limited number1 of geographically restricted populations2, 3, 4, 5, or been targeted at specific diseases, such as cancer6. Nevertheless, the availability of high- resolution genomic data has led to the development of new methodologies for inferring population history7, 8, 9 and refuelled the debate on the mutation rate in humans10. Here we present the Estonian Biocentre Human Genome Diversity Panel (EGDP), a dataset of 483 high-coverage human genomes from 148 populations worldwide, including 379 new genomes from 125 populations, which we group into diversity and selection sets. We analyse this dataset to refine estimates of continent-wide patterns of heterozygosity, long- and short-distance gene flow, archaic admixture, and changes in effective population size through time as well as for signals of positive or balancing selection. We find a genetic signature in present-day Papuans that suggests that at least 2% of their genome originates from an early and largely extinct expansion of anatomically modern humans (AMHs) out of Africa. Together with evidence from the western Asian fossil record11, and admixture between AMHs and Neanderthals predating the main Eurasian expansion12, our results contribute to the mounting evidence for the presence of AMHs out of Africa earlier than 75, 000 years ago.

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0fcc58a945c52854c6ee4d03f004505Test
https://escholarship.org/uc/item/6568472dTest

المؤلفون: Neven, Meseldžić, Maja, Malenica, Tanja, Dujić, Una, Glamočlija, Selma, Imamović-Kadrić, Lejla, Prnjavorac, Omer, Bedak, Besim, Prnjavorac, Damir, Marjanović, Tamer, Bego

المصدر: Genetics & Applications; 2023 Special Issue, p72-72, 1p

مصطلحات موضوعية: CREATINE kinase, COVID-19, GENETIC polymorphisms, ANGIOTENSIN converting enzyme, CREATININE

مستخلص: COVID-19 manifests with a spectrum of symptoms, varying in intensity, and can lead to fatal outcomes in certain instances. Within the human genetic makeup, the ACE2 (angiotensinconverting enzyme 2) gene governs the production of the ACE2 protein--a receptor situated on the surface of human cells. This receptor holds a pivotal role in the control of blood pressure and cardiovascular functions. This study aimed to investigate the potential impact of the ACE2 gene polymorphism (rs2285666) on serum creatinine and creatine kinase (CK) levels among COVID-19 patients and to assess its association with disease severity. The research encompassed 750 individuals diagnosed with COVID-19, all of whom were enrolled at General Hospital Tešanj. These patients were categorized into three groups based on the severity of their condition--mild, moderate, and severe. Genomic DNA was isolated from whole blood samples. The genotyping process was carried out using the Applied Biosystems QuantStudio5 RT-PCR System. Our findings revealed noteworthy associations within the group of patients exhibiting mild disease severity. Specifically, individuals carrying the CC (93.59±3.02) and TT genotypes (93.59±3.02) demonstrated significantly elevated creatinine levels in comparison to those with the CT genotype (79.32±3.27), with p-values of <0.001 and 0.011, respectively. Additionally, among patients with a mild clinical outcomes, those with the CC genotype (322.98 ± 59.04) displayed significantly higher creatine kinase levels (p=0.043) when contrasted with individuals carrying the CT genotype (151.87 ± 38.07). However, within the groups of patients with moderate and severe clinical picture, our results did not reveal statistically significant associations between different genotypes and creatinine and CK levels. ACE2 gene polymorphism (rs2285666) appears to influence creatinine and creatine kinase levels specifically in COVID-19 patients with mild disease severity, suggesting a potential genetic basis for variations in renal and muscle function within this subgroup. However, no statistically significant associations were found in patients with moderate and severe clinical outcomes. [ABSTRACT FROM AUTHOR]

: Copyright of Genetics & Applications is the property of Genetics & Applications and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

المؤلفون: Damir, Marjanović

المصدر: Genetics & Applications; 2023 Special Issue, p26-26, 1p

مصطلحات موضوعية: DNA analysis, ANTHROPOMETRY, ARCHAEOLOGICAL human remains, HUMAN DNA, WORLD War II, DROWNING

مستخلص: It will soon be 25 years since the first identification of the skeletal remains of war victims from the territory of the former Yugoslavia. In those 25 years, domestic scientists in cooperation with their colleagues from other countries, processed several thousands of various skeletal remains. They achieved what many thought would not be possible. At the end of the 20th century, DNA analysis was a promising new method, but which still could not find its mass application in the identification of human skeletal remains. The first cases of the application of DNA analysis in individual plane crashes or the individual identification of American soldiers from the Gulf war and some other earlier wars served as a guiding idea that this method could be used in the identification of war victims found in mass graves found on the soil of BiH, Croatia and a little later Kosovo. After the initial difficulties and challenges encountered by this group of enthusiastic scientists, the entire process succeeded in alleviating the suffering of the local population, especially all those who were searching for the remains of their dearest family members. The scientific achievements resulting from these missions found their application years later in identification missions around the world, from victims of terrorist attacks in New York and Washington, over the victims of tsunamis and wars in Libya, Iraq and Syria, to the first identifications of civilian victims from mass graves. of the Second World War in Slovenia, Bosnia and Herzegovina. This presentation is brief reminder of previous scientific achievements and publications published on this topic within previous three decades. [ABSTRACT FROM AUTHOR]

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المؤلفون: Josephine Purps, Sabine Siegert, Sascha Willuweit, Marion Nagy, Cíntia Alves, Renato Salazar, Sheila M. T. Angustia, Lorna H. Santos, Katja Anslinger, Birgit Bayer, Qasim Ayub, Wei Wei, Yali Xue, Chris Tyler Smith, Miriam Baeta Bafalluy, Begoña Martínez Jarreta, Balazs Egyed, Beate Balitzki, Sibylle Tschumi, David Ballard, Denise Syndercombe Court, Xinia Barrantes, Gerhard Bäßler, Tina Wiest, Burkhard Berger, Harald Niederstätter, Walther Parson, Carey Davis, Bruce Budowle, Helen Burri, Urs Borer, Christoph Koller, Elizeu F. Carvalho, Patricia M. Domingues, Wafaa Takash Chamoun, Michael D. Coble, Carolyn R. Hill, Daniel Corach, Mariela Caputo, Maria E. D’Amato, Sean Davison, Ronny Decorte, Maarten H. D. Larmuseau, Claudio Ottoni, Olga Rickards, Di Lu, Chengtao Jiang, Tadeusz Dobosz, Anna Jonkisz, William E. Frank, Ivana Furac, Christian Gehrig, Vincent Castella, Branka Grskovic, Cordula Haas, Jana Wobst, Gavrilo Hadzic, Katja Drobnic, Katsuya Honda, Yiping Hou, Di Zhou, Yan Li, Shengping Hu, Shenglan Chen, Uta Dorothee Immel, Rüdiger Lessig, Zlatko Jakovski, Tanja Ilievska, Anja E. Klann, Cristina Cano García, Peter de Knijff, Thirsa Kraaijenbrink, Aikaterini Kondili, Penelope Miniati, Maria Vouropoulou, Lejla Kovacevic, Damir Marjanovic, Iris Lindner, Issam Mansour, Mouayyad Al Azem, Ansar El Andari, Miguel Marino, Sandra Furfuro, Laura Locarno, Pablo Martín, Gracia M. Luque, Antonio Alonso, Luís Souto Miranda, Helena Moreira, Natsuko Mizuno, Yasuki Iwashima, Rodrigo S. Moura Neto, Tatiana L. S. Nogueira, Rosane Silva, Marina Nastainczyk Wulf, Jeanett Edelmann, Michael Kohl, Shengjie Nie, Xianping Wang, Baowen Cheng, Carolina Núñez, Marian Martínez de Pancorbo, Jill K. Olofsson, Niels Morling, Horolma Pamjav, Antonia Volgyi, Gusztav Barany, Ryszard Pawlowski, Agnieszka Maciejewska, Susi Pelotti, Witold Pepinski, Monica Abreu Glowacka, Christopher Phillips, Jorge Cárdenas, Danel Rey Gonzalez, Antonio Salas, Francesca Brisighelli, Cristian Capelli, Ulises Toscanini, Andrea Piccinini, Marilidia Piglionica, Stefania L. Baldassarra, Rafal Ploski, Magdalena Konarzewska, Emila Jastrzebska, Carlo Robino, Antti Sajantila, Jukka U. Palo, Evelyn Guevara, Jazelyn Salvador, Maria Corazon De Ungria, Jae Joseph Russell Rodriguez, Ulrike Schmidt, Nicola Schlauderer, Pekka Saukko, Peter M. Schneider, Miriam Sirker, Kyoung Jin Shin, Yu Na Oh, Iulia Skitsa, Alexandra Ampati, Tobi Gail Smith, Lina Solis de Calvit, Vlastimil Stenzl, Thomas Capal, Andreas Tillmar, Helena Nilsson, Stefania Turrina, Domenico De Leo, Andrea Verzeletti, Venusia Cortellini, Jon H. Wetton, Gareth M. Gwynne, Mark A. Jobling, Martin R. Whittle, Denilce R. Sumita, Paulina Wolańska Nowak, Rita Y. Y. Yong, Michael Krawczak, Michael Nothnagel, Lutz Roewer, ONOFRI, Valerio, TAGLIABRACCI, Adriano

المساهمون: Josephine, Purp, Sabine, Siegert, Sascha, Willuweit, Marion, Nagy, Cíntia, Alve, Renato, Salazar, Sheila M. T., Angustia, Lorna H., Santo, Katja, Anslinger, Birgit, Bayer, Qasim, Ayub, Wei, Wei, Yali, Xue, Chris Tyler, Smith, Miriam Baeta, Bafalluy, Begoña Martínez, Jarreta, Balazs, Egyed, Beate, Balitzki, Sibylle, Tschumi, David, Ballard, Denise Syndercombe, Court, Xinia, Barrante, Gerhard, Bäßler, Tina, Wiest, Burkhard, Berger, Harald, Niederstätter, Walther, Parson, Carey, Davi, Bruce, Budowle, Helen, Burri, Urs, Borer, Christoph, Koller, Elizeu F., Carvalho, Patricia M., Domingue, Wafaa Takash, Chamoun, Michael D., Coble, Carolyn R., Hill, Daniel, Corach, Mariela, Caputo, Maria E., D’Amato, Sean, Davison, Ronny, Decorte, Maarten H. D., Larmuseau, Claudio, Ottoni, Olga, Rickard, Di, Lu, Chengtao, Jiang, Tadeusz, Dobosz, Anna, Jonkisz, William E., Frank, Ivana, Furac, Christian, Gehrig, Vincent, Castella, Branka, Grskovic, Cordula, Haa, Jana, Wobst, Gavrilo, Hadzic, Katja, Drobnic, Katsuya, Honda, Yiping, Hou, Di, Zhou, Yan, Li, Shengping, Hu, Shenglan, Chen, Uta Dorothee, Immel, Rüdiger, Lessig, Zlatko, Jakovski, Tanja, Ilievska, Anja E., Klann, Cristina Cano, García, Peter de, Knijff, Thirsa, Kraaijenbrink, Aikaterini, Kondili, Penelope, Miniati, Maria, Vouropoulou, Lejla, Kovacevic, Damir, Marjanovic, Iris, Lindner, Issam, Mansour, Mouayyad Al, Azem, Ansar El, Andari, Miguel, Marino, Sandra, Furfuro, Laura, Locarno, Pablo, Martín, Gracia M., Luque, Antonio, Alonso, Luís Souto, Miranda, Helena, Moreira, Natsuko, Mizuno, Yasuki, Iwashima, Rodrigo S., Moura Neto, Tatiana L. S., Nogueira, Rosane, Silva, Marina Nastainczyk, Wulf, Jeanett, Edelmann, Michael, Kohl, Shengjie, Nie, Xianping, Wang, Baowen, Cheng

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000342433400002; journal:FORENSIC SCIENCE INTERNATIONAL: GENETICS; http://hdl.handle.net/11566/172903Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84901332843

الإتاحة: https://doi.org/10.1016/j.fsigen.2014.04.008Test
http://hdl.handle.net/11566/172903Test