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2. A high-coverage Neandertal genome from Vindija Cave in Croatia

Author

Prüfer, Kay, de Filippo, Cesare, Grote, Steffi, Mafessoni, Fabrizio, Korlević, Petra, Hajdinjak, Mateja, Vernot, Benjamin, Skov, Laurits, Hsieh, Pinghsun, Peyrégne, Stéphane, Reher, David, Hopfe, Charlotte, Nagel, Sarah, Maricic, Tomislav, Fu, Qiaomei, Theunert, Christoph, Rogers, Rebekah, Skoglund, Pontus, Chintalapati, Manjusha, Dannemann, Michael, Nelson, Bradley J., Key, Felix M., Rudan, Pavao, Kućan, Željko, Gušić, Ivan, Golovanova, Liubov V., Doronichev, Vladimir B., Patterson, Nick, Reich, David, Eichler, Evan E., Slatkin, Montgomery, Schierup, Mikkel H., Andrés, Aida M., Kelso, Janet, Meyer, Matthias, and Pääbo, Svante

Published
2017

3. Neandertal and Denisovan DNA from Pleistocene sediments

Author

Slon, Viviane, Hopfe, Charlotte, Weiß, Clemens L., Mafessoni, Fabrizio, de la Rasilla, Marco, Lalueza-Fox, Carles, Rosas, Antonio, Soressi, Marie, Knul, Monika V., Miller, Rebecca, Stewart, John R., Derevianko, Anatoly P., Jacobs, Zenobia, Li, Bo, Roberts, Richard G., Shunkov, Michael V., de Lumley, Henry, Perrenoud, Christian, Gušić, Ivan, Kućan, Željko, Rudan, Pavao, Aximu-Petri, Ayinuer, Essel, Elena, Nagel, Sarah, Nickel, Birgit, Schmidt, Anna, Prüfer, Kay, Kelso, Janet, Burbano, Hernán A., Pääbo, Svante, and Meyer, Matthias

Published
2017

4. Refining the Global Phylogeny of Mitochondrial N1a, X, and HV2 Haplogroups Based on Rare Mitogenomes from Croatian Isolates

Author

Havaš Auguštin, Dubravka Havaš, primary, Šarac, Jelena, additional, Reidla, Maere, additional, Tamm, Erika, additional, Grahovac, Blaženka, additional, Kapović, Miljenko, additional, Novokmet, Natalija, additional, Rudan, Pavao, additional, Missoni, Saša, additional, Marjanović, Damir, additional, and Korolija, Marina, additional

Published
2023
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5. Reconstructing the genetic history of late Neanderthals

Author

Hajdinjak, Mateja, Fu, Qiaomei, Hübner, Alexander, Petr, Martin, Mafessoni, Fabrizio, Grote, Steffi, Skoglund, Pontus, Narasimham, Vagheesh, Rougier, Hélène, Crevecoeur, Isabelle, Semal, Patrick, Soressi, Marie, Talamo, Sahra, Hublin, Jean-Jacques, Gušić, Ivan, Kućan, Željko, Rudan, Pavao, Golovanova, Liubov V., Doronichev, Vladimir B., Posth, Cosimo, Krause, Johannes, Korlević, Petra, Nagel, Sarah, Nickel, Birgit, Slatkin, Montgomery, Patterson, Nick, Reich, David, Prüfer, Kay, Meyer, Matthias, Pääbo, Svante, and Kelso, Janet

Published
2018
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6. Influence of genetic substructuring of statistical forensic parameters on genetic short tandem repeat markers in the populations of Southeastern Europe

Author

Novokmet, Natalija, Peričić Salihović, Marijana, Škaro, Vedrana, Projić, Petar, Šarac, Jelena, Havaš Auguštin, Dubravka, Rudan, Pavao, Primorac, Dragan, and Marjanović, Damir

Subjects
Europe, Male, Genetics, Population, Polymorphism, Genetic, Gene Frequency, genetic substructuring, forensic parameters, STR, Southeastern Europe, Humans, Female, General Medicine, Microsatellite Repeats
Abstract

Aim To investigate the influence of specific intrapopula - tion genetic structures on interpopulation relationships. Special focus was the influence of island population isola - tion on the substructuring of the Croatian population, and the influence of regional population groups on the sub - structuring of Southeast European populations. Methods Autosomal short tandem repeat (STR) loci were analyzed by using four forensic parameters: matching probability (PM), power of discrimination (PD), power of exclusion (PE), and polymorphic information content (PIC) on a sample of 2877 unrelated participants of both sexes. A sample set comprising 590 participants was analyzed for the first time, and 2287 participants were included from previous studies. The analysis was performed with Power - Stats v. 1.2. Results The analysis of forensic parameters for all nine loci in the Croatian subpopulations showed the largest devia - tions in the populations of the islands of Korčula and Hvar. The smallest deviations were found in the mainland popu - lation. As for Southeast European populations, the largest deviations were found in the population of North Mace - donia, followed by Romania, Albanians from Kosovo, and Montenegro, while the smallest deviations were found in the population of Hungary. Conclusion The comparison of forensic parameters be - tween different subpopulations of Croatia and Southeast Europe indicates that the isolation of individual Croatian subpopulations and rare alleles in their gene pool affect the values of forensic parameters. Specific features of (sub) populations should be taken into account for appropriate sampling of the total population when creating a DNA da - tabase of STR markers.

Published
2022

9. Patterns of coding variation in the complete exomes of three Neandertals

Author

Castellano, Sergi, Parra, Genís, Sánchez-Quinto, Federico A., Racimo, Fernando, Kuhlwilm, Martin, Kircher, Martin, Sawyer, Susanna, Fu, Qiaomei, Heinze, Anja, Nickel, Birgit, Dabney, Jesse, Siebauer, Michael, White, Louise, Burbano, Hernán A., Renaud, Gabriel, Stenzel, Udo, Lalueza-Fox, Carles, de la Rasilla, Marco, Rosas, Antonio, Rudan, Pavao, Brajković, Dejana, Kucan, Željko, Gušic, Ivan, Shunkov, Michael V., Derevianko, Anatoli P., Viola, Bence, Meyer, Matthias, Kelso, Janet, Andrés, Aida M., and Pääbo, Svante

Published
2014

10. Ancient gene flow from early modern humans into Eastern Neanderthals

Author

Kuhlwilm, Martin, Gronau, Ilan, Hubisz, Melissa J., de Filippo, Cesare, Prado-Martinez, Javier, Kircher, Martin, Fu, Qiaomei, Burbano, Hernan A., Lalueza-Fox, Carles, de la Rasilla, Marco, Rosas, Antonio, Rudan, Pavao, Brajkovic, Dejana, Kucan, Zeljko, Gusic, Ivan, Marques-Bonet, Tomas, Andres, Aida M., Viola, Bence, Paabo, Svante, Meyer, Matthias, Siepel, Adam, and Castellano, Sergi

Subjects
Neanderthals -- Genetic aspects -- Research, Genomes -- Natural history -- Research, Gene flow -- Research, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

It has been shown that Neanderthals contributed genetically to modern humans outside Africa 47,000-65,000 years ago. Here we analyse the genomes of a Neanderthal and a Denisovan from the Altai Mountains in Siberia together with the sequences of chromosome 21 of two Neanderthals from Spain and Croatia. We find that a population that diverged early from other modern humans in Africa contributed genetically to the ancestors of Neanderthals from the Altai Mountains roughly 100,000 years ago. By contrast, we do not detect such a genetic contribution in the Denisovan or the two European Neanderthals. We conclude that in addition to later interbreeding events, the ancestors of Neanderthals from the Altai Mountains and early modern humans met and interbred, possibly in the Near East, many thousands of years earlier than previously thought., Based on the fossil record, Neanderthals diverged from modern humans at least 430,000 years ago (1), and the analysis of a Neanderthal genome from a cave in the Altai Mountains [...]

Published
2016
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13. Genetic sub-structuring of Croatian island populations in the Southeastern European context: a meta-analysis

Author

Novokmet, Natalija, Galov, Ana, Škaro, Vedrana, Projić, Petar, Šarac, Jelena, Havaš Auguštin, Dubravka, Rudan, Pavao, Primorac, Dragan, Marjanović, Damir, Novokmet, Natalija, Galov, Ana, Škaro, Vedrana, Projić, Petar, Šarac, Jelena, Havaš Auguštin, Dubravka, Rudan, Pavao, Primorac, Dragan, and Marjanović, Damir

Abstract

Aim To use the method of meta-analysis to assess the influence of island population isolation on the sub-structuring of the Croatian population, as well as the influence of regional population groups on the sub-structuring of the Southeastern European population with regard to basic population genetic statistical parameters calculated by using STR locus analysis. Methods Bio-statistical analyses were performed for 2877 unrelated participants of both sexes from Southeastern Europe. Nine autosomal STR loci (D3S1358, vWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317, and D7S82) were analyzed by using standard F-statistics and population structure analysis (Structure software). Results Genetic differentiation of Croatian subpopulations assessed with the FST method was higher at the level of the Croatian population (0.005) than at the level of Southeastern Europe (0.002). The island of Vis showed the most pronounced separation in the Croatian population, and Albanians from Kosovo in the population of Southeast Europe, followed by Croatia, Bosnia and Herzegovina, and Hungary. Conclusion The higher structure of Croatian subpopulations in relation to Southeastern Europe suggest a certain degree of genetic isolation, most likely due to the influence of endogamy within rural island populations.

Published
2022

14. Genetic sub-structuring of Croatian island populations in a wider southeast-European context- a meta-analysis

Author

Novokmet, Natalija, Galov, Ana, Škaro, Vedrana, Projić, Petar, Šarac, Jelena, Havaš Auguštin, Dubravka, Missoni, Saša, Rudan, Pavao, Primorac, Dragan, Marjanović, Damir., Marjanović, Damir, and Dodigović, Lucija.

Subjects
Genetic sub-structuring, STR, Southeastern Europe, Croatian island isolates
Abstract

Goal was to determine the influence of island population isolation on the sub structuring of the Croatian population, and the influence of regional population groups on the sub structuring of Southeast Europe with regards to basic population genetic statistical parameters calculated using STR locus analysis. Bio-statistical analyzes were performed for a total sample of 2877 unrelated participants of both sexes from the area of Southeastern Europe was analyzed. Nine autosomal STR loci (D3S1358, vWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317, D7S82) were analyzed using standard F-statistics and population structure analysis (program STRUCTURE). The total coefficient of genetic differentiation of Croatian subpopulations calculated by the FST method is higher at the level of the Croatian population (0.005) than at the level of Southeast Europe (0.002). In the population of Croatia, the subpopulation of the island of Vis shows the most pronounced separation, and in the population of Southeast Europe the population of Albanians from Kosovo, then the populations of Croatia, Bosnia and Herzegovina and Hungary. The established higher structure of Croatian subpopulations in relation to the populations of Southeast Europe suggests the existence of a certain degree of genetic isolation, most likely due to the influence of endogamy within rural island populations. The total genetic differentiation coefficient of Croatian subpopulations calculated by the FST method is higher at the level of the Croatian population (0.005) than at the level of Southeast Europe (0.002). The established higher structure of Croatian subpopulations in relation to Southeast Europe suggest the existence of a certain degree of genetic isolation, most likely due to the influence of endogamy within rural island populations.

Published
2022

15. INFLUENCE OF GENETIC SUB-STRUCTURING OF STATISTICAL FORENSIC PARAMETERS ON GENETIC STR MARKERS IN THE POPULATIONS OF SOUTHEASTERN EUROPE

Author

Novokmet, Natalija, Peričić Salihović, Marijana, Škaro, Vedrana, Projić, Petar, Šarac, Jelena, Havaš Auguštin, Dubravka, Missoni, Saša, Rudan, Pavao, Primorac, Dragan, and Marjanović, Damir

Subjects
STRs, genetic sub-structuring, forensic parameters, Croatia, Southeast Europe
Abstract

The goal was to perform a meta-analysis of synthesized data and investigate the influence of specific intrapopulation genetic structures on interpopulation relationships. Special focus was the influence of island population isolation on the substructuring of the Croatian population, and the influence of regional population groups on the substructuring of Southeast Europe. A long-term goal is to develop a model of appropriate sampling of the total population when creating a database of genetic STR markers that would properly reflect all the characteristics of included subpopulations. Autosomal STR loci were analyzed using four forensic parameters (match probability, power of discrimination, power of exclusion and the degree of polymorphism) on a sample of 2877 unrelated participants of both sexes. The analysis was performed using the statistical package PowerStats v1.2. The comparison of forensic parameters between different subpopulations of Croatia and Southeast Europe indicates that the isolation of individual Croatian subpopulations and certain rare alleles in their gene pool affect the values of forensic parameters. Specific features of (sub)populations should be taken into account for appropriate sampling of the total population when creating a DNA database of STR markers.

Published
2022

16. A Draft Sequence of the Neandertal Genome

Author

Green, Richard E., Krause, Johannes, Briggs, Adrian W., Marcic, Tomislav, Stenzel, Udo, Kircher, Martin, Patterson, Nick, Li, Heng, Zhai, Weiwei, Fritz, Markus Hsi-Yang, Hansen, Nancy F., Durand, Eric Y., Malaspinas, Anna-Sapfo, Jensen, Jeffrey D., Marques-Bonet, Tomas, Alkan, Can, Prüfer, kay, Meyer, Matthias, Burbano, Hernán A., Good, Jeffrey M., Schultz, Rigo, Aximu-Petri, Ayinuer, Butthof, Anne, Höber, Barbara, Höffner, Barbara, Siegemund, Madlen, Weihmann, Antje, Nusbaum, Chad, Lander, Eric S., Russ, Carsten, Novod, Nathaniel, Affourtit, Jason, Egholm, Michael, Verna, Christine, Rudan, Pavao, Brajkovic, Dejana, Kucan, Zeljko, Gusic, Ivan, Doronichev, Vladimir B., Golovanova, Liubov V., Lalueza-Fox, Carles, de la Rasilla, Marco, Fortea, Javier, Rosas, Antonio, Schmitz, Ralf W., Johnson, Philip L F., Eichler, Evan E., Falush, Daniel, Birney, Ewan, Mullikin, James, Slatkin, Montgomery, Nielsen, Rasmus, Kelso, Janet, Lachmann, Michael, Reich, David, and Pääbo, Svante

Published
2010

17. Origin and spread of human mitochondrial DNA haplogroup U7

Author

Sahakyan, Hovhannes, Hooshiar Kashani, Baharak, Tamang, Rakesh, Kushniarevich, Alena, Francis, Amirtharaj, Costa, Marta D, Pathak, Ajai Kumar, Khachatryan, Zaruhi, Sharma, Indu, van Oven, Mannis, Parik, Jüri, Hovhannisyan, Hrant, Metspalu, Ene, Pennarun, Erwan, Karmin, Monika, Tamm, Erika, Tambets, Kristiina, Bahmanimehr, Ardeshir, Reisberg, Tuuli, Reidla, Maere, Achilli, Alessandro, Olivieri, Anna, Gandini, Francesca, Perego, Ugo A., Al-Zahery, Nadia, Houshmand, Massoud, Sanati, Mohammad Hossein, Soares, Pedro, Rai, Ekta, Šarac, Jelena, Šarić, Tena, Sharma, Varun, Pereira, Luisa, Fernandes, Veronica, Černý, Viktor, Farjadian, Shirin, Singh, Deepankar Pratap, Azakli, Hülya, Üstek, Duran, Ekomasova (Trofimova), Natalia, Kutuev, Ildus, Litvinov, Sergei, Bermisheva, Marina, Khusnutdinova, Elza K., Rai, Niraj, Singh, Manvendra, Singh, Vijay Kumar, Reddy, Alla G., Tolk, Helle-Viivi, Cvjetan, Svjetlana, Lauc, Lovorka Barac, Rudan, Pavao, Michalodimitrakis, Emmanuel N., Anagnou, Nicholas P., Pappa, Kalliopi I., Golubenko, Maria V., Orekhov, Vladimir, Borinskaya, Svetlana A, Kaldma, Katrin, Schauer, Monica A., Simionescu, Maya, Gusar, Vladislava, Grechanina, Elena, Govindaraj, Periyasamy, Voevoda, Mikhail, Damba, Larissa, Sharma, Swarkar, Singh, Lalji, Semino, Ornella, Behar, Doron M., Yepiskoposyan, Levon, Richards, Martin B., Metspalu, Mait, Kivisild, Toomas, Thangaraj, Kumarasamy, Endicott, Phillip, Chaubey, Gyaneshwer, Torroni, Antonio, and Villems, Richard

Published
2017
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18. Targeted Retrieval and Analysis of Five Neandertal mtDNA Genomes

Author

Briggs, Adrian W., Good, Jeffrey M., Green, Richard E., Krause, Johannes, Maricic, Tomislav, Stenzel, Udo, Lalueza-Fox, Carles, Rudan, Pavao, Brajković, Dejana, Kućan, Željko, Gušić, Ivan, Schmitz, Ralf, Doronichev, Vladimir B., Golovanova, Liubov V., de la Rasilla, Marco, Fortea, Javier, Rosas, Antonio, and Pääbo, Svante

Published
2009
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19. Effects of Isolation and Inbreeding on Human Quantitative Traits: An Example of Biochemical Markers of Hemostasis and Inflammation

Author

PULANIĆ, DRAŽEN, POLAŠEK, OZREN, PETROVEČKI, MLADEN, VORKO-JOVIĆ, ARIANA, PERIČIĆ, MARIJANA, LAUC, LOVORKA BARAĆ, KLARIĆ, IRENA MARTINOVIĆ, BILOGLAV, ZRINKA, KOLČIĆ, IVANA, ZGAGA, LINA, CAROTHERS, ANDREW D., RAMIĆ, SENAD, ŠETIĆ, MIA, JANIĆIJEVIĆ, BRANKA, NARANČIĆ, NINA SMOLEJ, BUČAN, KAJO, RUDAN, DIANA, LOWE, GORDON, RUMLEY, ANN, RUDAN, PAVAO, CAMPBELL, HARRY, and RUDAN, IGOR

Published
2008

23. Glycans Are a Novel Biomarker of Chronological and Biological Ages

Author

Krištić, Jasminka, Vučković, Frano, Menni, Cristina, Klarić, Lucija, Keser, Toma, Beceheli, Ivona, Pučić-Baković, Maja, Novokmet, Mislav, Mangino, Massimo, Thaqi, Kujtim, Rudan, Pavao, Novokmet, Natalija, Šarac, Jelena, Missoni, Saša, Kolčić, Ivana, Polašek, Ozren, Rudan, Igor, Campbell, Harry, Hayward, Caroline, Aulchenko, Yurii, Valdes, Ana, Wilson, James F., Gornik, Olga, Primorac, Dragan, Zoldoš, Vlatka, Spector, Tim, and Lauc, Gordan

Published
2014
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24. Maternal Genetic Heritage of Southeastern Europe Reveals a New Croatian Isolate and a Novel, Local Sub-Branching in the X2 Haplogroup

Author

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

Published
2014
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25. Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration

Author

Ansari, Morad, Mckeigue, Paul M., Skerka, Christine, Hayward, Caroline, Rudan, Igor, Vitart, Veronique, Polasek, Ozren, Armbrecht, Ana-Maria, Yates, John R.W., Vatavuk, Zoran, Bencic, Goran, Kolcic, Ivana, Oostra, Ben A., Van Duijn, Cornelia M., Campbell, Susan, Stanton, Chloe M., Huffman, Jennifer, Shu, Xinhua, Khan, Jane C., Shahid, Humma, Harding, Simon P., Bishop, Paul N., Deary, Ian J., Moore, Anthony T., Dhillon, Baljean, Rudan, Pavao, Zipfel, Peter F., Sim, Robert B., Hastie, Nicholas D., Campbell, Harry, and Wright, Alan F.

Published
2013
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26. Runs of homozygosity in European populations

Author

McQuillan, Ruth, Abdel-Rahman, Rehab, Franklin, Christopher S., Leutenegger, Anne-Louise, Pericic, Marijana, Smolej-Narancic, Nina, Janicijevic, Branka, Polasek, Ozren, Barac-Lauc, Lovorka, Tenesa, Albert, Farrington, Susan M., Rudan, Pavao, Hayward, Caroline, MacLeod, Andrew K., Vitart, Veronique, Rudan, Igor, Wild, Sarah H., Dunlop, Malcolm G., Wright, Alan F., Campbell, Harry, and Wilson, James F.

Subjects
Dominance (Genetics) -- Analysis, Population genetics -- Analysis, Biological sciences
Abstract

The article discusses a recently developed method, which employs the data obtained on runs of homozygosity (ROHs) for estimating the autozygosity of individuals and populations of European origin. The proportion of the autosomal genome in runs of homozygosity above a specified length in an individual is used for the analysis.

Published
2008

27. The Eysenck personality factors: Psychometric structure, reliability, heritability and phenotypic and genetic correlations with psychological distress in an isolated Croatian population

Author

Ivkovic, Vladimir, Vitart, Veronique, Rudan, Igor, Janicijevic, Branka, Smolej-Narancic, Nina, Skaric-Juric, Tatjana, Barbalic, Maja, Polasek, Ozren, Kolcic, Ivana, Biloglav, Zrinka, Visscher, Peter M., Hayward, Caroline, Hastie, Nicholas D., Anderson, Niall, Campbell, Harry, Wright, Alan F., Rudan, Pavao, and Deary, Ian J.

Published
2007
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28. Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in Europe

Author

Rootsi, Siiri, Magri, Chiara, Kivisild, Toomas, Benuzzi, Georgia, Help, Hela, Bermisheva, Marina, Kutuev, Ildus, Barac, Lovorka, Pericic, Marijana, Balanovsky, Oleg, Pshenichnov, Andrey, Dion, Daniel, Grobei, Monica, Zhivotovsky, Lev A., Battaglia, Vincenza, Achilli, Alessandro, Zahery, Nadia Al-, Parik, Juri, King, Roy, Cinnioglu, Cengiz, Khusnutdinova, Elsa, Rudan, Pavao, Balanovska, Elena, Scheffrahn, Wolfgang, Simonescu, Maya, Brehm, Antonio, Goncalves, Rita, Rosa, Alexandra, Moisan, Jean-Paul, Chaventre, Andre, Ferak, Vladimir, Furedi, Sandor, Oefner, Peter J., Shen, Peidong, Beckman, Lars, Mikerezi, Ilia, Terzic, Rifet, Primorac, Dragan, Cambon-Thomsen, Anne, Krumina, Astrida, Torroni, Antonio, Underhill, Peter A., Santachiara-Benerecetti, A. Silvana, Villems, Richard, and Semino, Ornella

Subjects
Human genetics -- Research, Biological sciences
Published
2004

29. The western and eastern roots of the Saami--the story of genetic 'outliers' told by mitochondrial DNA and Y chromosomes

Author

Tambets, Kristiina, Rootsi, Siiri, Kivisild, Toomas, Help, Hela, Serk, Piia, Loogvali, Eva-Liis, Tolk, Helle-Viivi, Reidla, Maere, Metspalu, Ene, Pliss, Liana, Balanovsky, Oleg, Pshenichnov, Andrey, Balanovska, Elena, Gubina, Marina, Zhadanov, Sergey, Osipova, Ludmila, Damba, Larisa, Voevoda, Mikhail, Kutuev, Ildus, Bermisheva, Marina, Khusnutdinova, Elza, Gusar, Vladislava, Grechanina, Elena, Parik, Juri, Pennarun, Erwan, Richard, Christelle, Chaventre, Andre, Moisan, Jean-Paul, Barac, Lovorka, Pericic, Marijana, Rudan, Pavao, Terzic, Rifat, Mikerezi, Ilia, Krumina, Astrida, Baumanis, Viesturs, Koziel, Slawomir, Rickards, Olga, De Stefano, Gian Franco, Anagnou, Nicholas, Pappa, Kalliopi I., Michalodimitrakis, Emmanuel, Ferak, Vladimir, Furedi, Sandor, Komel, Radovan, Beckman, Lars, and Villems, Richard

Subjects
Samis -- Research, Samis -- Genetic aspects, Biological sciences
Published
2004

30. Origin and diffusion of mtDNA haplogroup X

Author

Reidla, Maere, Kivisild, Toomas, Metspalu, Ene, Kaldma, Katrin, Tambets, Kristiina, Tolk, Helle-Viivi, Parik, Juri, Loogvali, Eva-Liis, Derenko, Miroslava, Malyarchuk, Boris, Bermisheva, Marina, Zhadonov, Sergey, Pennarun, Erwan, Gubina, Marina, Golubenko, Maria, Damba, Larisa, Fedorova, Sardana, Gusar, Vladislava, Grechanina, Elena, Mikerezi, Ilia, Moisan, Jean-Paul, Chaventre, Andre, Khusnutdinova, Elsa, Osipova, Ludmila, Stepanov, Vadim, Voevoda, Mikhail, Achilli, Alessandro, Rengo, Chiara, Rickards, Olga, De Stefano, Gian Franco, Papiha, Surinder, Beckman, Lars, Janicijevic, Branka, Rudan, Pavao, Anagnou, Nicholas, Michalodimitrakis, Emmanuel, Koziel, Slawomir, Usanga, Esien, Geberhiwot, Tarekegn, Herrnstadt, Corinna, Howell, Neil, Torroni, Antonio, and Villems, Richard

Subjects
DNA -- Research, Biological sciences
Published
2003

31. Inbreeding and the genetic complexity of human hypertension

Author

Rudan, Igor, Smolej-Narancic, Nina, Campbell, Harry, Carothers, Andrew, Wright, Alan, Janicijevic, Branka, and Rudan, Pavao

Subjects
Hypertension -- Genetic aspects, Inbreeding -- Genetic aspects, Inbreeding -- Health aspects, Cookery for hypertensives, Biological sciences
Abstract

Considerable uncertainty exists regarding the genetic architecture underlying common late-onset human diseases. In particular, the contribution of deleterious recessive alleles has been predicted to be greater for late-onset than for early-onset traits. We have investigated the contribution of recessive alleles to human hypertension by examining the effects of inbreeding on blood pressure (BP) as a quantitative trait in 2760 adult individuals from 25 villages within Croatian island isolates. We found a strong linear relationship between the inbreeding coefficient (F) and both systolic and diastolic BP, indicating that recessive or partially recessive quantitative trait locus (QTL) alleles account for 10-15% of the total variation in BP in this population. All increase in F of 0.01 corresponded to an increase of ~3 mm Hg in systolic and 2 mm Hg in diastolic BP. Regression of F on BP indicated that at least several hundred (300-600) recessive QTL contribute to BP variability. A model of the distribution of locus effects suggests that the 8-16 QTL of largest effect together account for a maximum of 25% of the dominance variation, while the remaining 75% of the variation is mediated by QTL of very, small effect, unlikely to be detectable using current technologies and sample sizes. We infer that recent inbreeding accounts for 36% of all hypertension in this population. The global impact of inbreeding on hypertension may be substantial since, although inbreeding is declining in Western societies, an estimated 1 billion people globally show rates of consanguineous marriages >20%.

Published
2003

33. Evidence on major gene control of cortical index in pedigree data from middle Dalmatia, Croatia

Author

Ginsburg, Emil, Skaric-Juric, Tatjana, Kobyliansky, Eugene, Malkin, Ida, and Rudan, Pavao

Subjects
Dalmatia, Croatia -- Research, Genetic research -- Analysis, Croats -- Genetic aspects, Biological sciences
Abstract

This article examines the genetic inheritance of the metacarpal cortical index (CI) in the Chuvashin population by applying transmission probability tests. Results found that gene models were responsible for 42% of variation and also takes part in control of CI dependence on age, especially at onset of involute bone changes.

Published
2001

36. High-Resolution Phylogenetic Analysis of Southeastern Europe Traces Major Episodes of Paternal Gene Flow Among Slavic Populations

Author

Peričić, Marijana, Lauc, Lovorka Barać, Klarić, Irena Martinović, Rootsi, Siiri, Janićijević, Branka, Rudan, Igor, Terzić, Rifet, Čolak, Ivanka, Kvesić, Ante, Popović, Dan, Šijački, Ana, Behluli, Ibrahim, Đorđević, Dobrivoje, Efremovska, Ljudmila, Bajec, Đorđe D., Stefanović, Branislav D., Villems, Richard, and Rudan, Pavao

Published
2005

37. Population genetics of 8 Y chromosome STR loci in Macedonians and Macedonian Romani (Gypsy).

Author

Pericic, Marijana, Klaric, Irena Martinovic, Lauc, Lovorka Barac, Janicijevic, Branka, Dordevic, Dobrivoje, Efremovska, Ljudmila, and Rudan, Pavao

Abstract

Abstract Eight Y chromosome short tandem repeat (STR) polymorphisms (DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393) were analyzed in Macedonians (n = 84) and Macedonian Romani ethnic group (n [...]

Published
2005

38. Evaluation of Y-STR variation in Bosnian and Herzegovinian population.

Author

Matinovic Klaric, Irena, Lauc, Lovorka Barac, Pericic, Marijana, Janicijevic, Branka, Terzic, Rifet, Colak, Ivanka, Kvesic, Ante, and Rudan, Pavao

Abstract

Abstract Eight Y-STR polymorphisms (DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392 and DYS393) were analyzed in the samples of 181 unrelated males from Bosnia and Herzegovinia. Observed STR allelic frequency [...]

Published
2005

39. Disuniting Uniformity: A Pied Cladistic Canvas of mtDNA Haplogroup H in Eurasia

Author

Loogväli, Eva-Liis, Roostalu, Urmas, Malyarchuk, Boris A., Derenko, Miroslava V., Kivisild, Toomas, Metspalu, Ene, Tambets, Kristiina, Reidla, Maere, Tolk, Helle-Viivi, Parik, Jüri, Pennarun, Erwan, Laos, Sirle, Lunkina, Arina, Golubenko, Maria, Barać, Lovorka, Peričić, Marijana, Balanovsky, Oleg P., Gusar, Vladislava, Khusnutdinova, Elsa K., Stepanov, Vadim, Puzyrev, Valery, Rudan, Pavao, Balanovska, Elena V., Grechanina, Elena, Richard, Christelle, Moisan, Jean-Paul, Chaventré, André, Anagnou, Nicholas P., Pappa, Kalliopi I., Michalodimitrakis, Emmanuel N., Claustres, Mireille, Gölge, Mukaddes, Mikerezi, Ilia, Usanga, Esien, and Villems, Richard

Published
2004

40. Y chromosome STR polymorphisms in a Serbian population sample.

Author

Lauc, Lovorka Barac, Pericic, Marijana, Klaric, Irena Martinovic, Sijacki, Ana, Popovic, Dan, Janicijevic, Branka, and Rudan, Pavao

Subjects
Serbs -- Genetic aspects -- Research -- Analysis, Genetic polymorphisms -- Analysis -- Research -- Genetic aspects, Population genetics -- Research -- Analysis -- Genetic aspects, Y chromosome -- Analysis -- Research -- Genetic aspects
Abstract

Abstract Eight Y chromosome short tandem repeat (STR) polymorphisms (DYS19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393) were analyzed in the sample of 114 unrelated males living in Serbia. A [...]

Published
2005

41. Y chromosome haplotypes in Albanian population from Kosovo.

Author

Pericic, Marijana, Lauc, Lovorka Barac, Klaric, Irena Martinovic, Behluli, Ibrahim, Rudan, Pavao, and Janicijevic, Branka

Subjects
Albanians -- Genetic aspects -- Research -- Analysis, Haplotypes -- Analysis -- Genetic aspects -- Research, Population genetics -- Research -- Analysis -- Genetic aspects, Y chromosome -- Research -- Analysis -- Genetic aspects
Abstract

Abstract Eight Y chromosome short tandem repeat (STR) polymorphisms (DYS 19, DYS385, DYS389I, DYS389II, DYS390, DYS391, DYS392, and DYS393) were analyzed in the sample of 117 unrelated Albanian males living [...]

Published
2004

42. Y chromosome STRs in Croatians.

Author

Barac, Lovorka, Pericic, Marijana, Klaric, Irena Martinovic, Janicijevic, Branka, Parik, Juri, Rootsi, Siiri, and Rudan, Pavao

Subjects
Haplotypes -- Research, Population genetics -- Research, Y chromosome -- Research
Published
2003

43. Population structure of the Peljesac peninsula, Yugoslavia

Author

Zegura, Stephen L., Janicijevic, Branka, Simic, Diana, Roberts, Derek F., Bennett, Linda A., and Rudan, Pavao

Subjects
Human genetics -- Research, Migration, Internal -- Genetic aspects, Human population genetics -- Research, Yugoslavia -- Demographic aspects
Published
1990

45. Anthropometric measurements of Hvar islanders and changes in secular trend of height – evidence from the village of Gdinj

Author

Novokmet, Natalija, Havaš Auguštin, Dubravka, Šarac, Jelena, Perinić Lewis, Ana, Missoni, Saša, and Rudan, Pavao

Subjects
height, secular change, Gdinj, Island of Hvar
Abstract

The aim of this study was to compare the data on height of Hvar islanders collected from two transversal studies (1978/1979 and during the 1994). The first field research covered a total of 935 inhabitants of the island (484 males and 451 females) aged between 20 and 72 years, from five villages of the western part (Dol, Vrbanj, Svirče, Vrisnik, Pitve) and four villages of the eastern part of the island of Hvar (Poljica, Zastražišće, Gdinj, Bogomolje). The second field research was carried out in 1994 that enrolled total of 189 participants (82 males and 107 females) from the villages Dol, Vrbanj, Svirče, Zastražišće, Gdinj and Bogomolje. Comparison of data on Hvar adults since these two periods demonstrated a secular increase in average height for females and males in all investigated villages except in the village of Gdinj. Negative secular trend in village of Gdinj was observed for both female and male inhabitants. Possible explanation for this trend could be the specific migratory patterns and traditional practice of endogamy.

Published
2018

46. Asocijacijska studija kardiometaboličkih tragova na razini cijelog epigenoma u populaciji jadranskih otoka

Author

Niu, Liang, Langevin, Scott, Leung, Ricky, Zhang, Ge, Jandarov, Roman, Medvedovic, Mario, Ho, Shuk-Mei, Chen, Aimin, Šarac, Jelena, Carić, Tonko, Zajc Petranović, Matea, Havaš Auguštin, Dubravka, Bočkor, Luka, Missoni, Saša, Rudan, Pavao, and Ranjan, Deka

Subjects
GWAS, EWAS, kardiometabolički tragovi, metilacijski uzorak, populacijaska genetika
Abstract

CILJ: Cjelogenomske asocijacijske studije (GWAS) dosada su identificirale stotine učestalih varijanti gena povezanih s kompleksnim tragovima, međutim te varijante mogu objasniti samo manji dio fenotipske raznolikosti. U posljednje vrijeme sve više pažnje usmjereno je na ulogu epigenetičke varijabilnosti u etiologiji kompleksnih bolesti. Otkrivanje temeljnih genetičkih i epigenetičkih čimbenika koji pridonose povećanom riziku razvoja kardiometaboličkih poremećaja može značajno pridonijeti razvoju novih strategija prevencije i terapije navedenih poremećaja. U ovom istraživanju proveli smo iscrpnu asocijacijsku studiju na razini cijelog epigenoma (EWAS) koristeći longitudinalne uzorke sakupljene u razmaku od 10 godina i integrirali ih s prethodno provedenom GWAS studijom metaboličkih tragova populacije istočnojadranskih otoka Hrvatske. Glavni cilj rada je utvrditi epigenetičke čimbenike koji stoje u podlozi nastanka kardiometaboličkih poremećaja u navedenoj populaciji. METODE: Postavili smo sljedeće hipoteze: (1) stabilne epigenetičke oznake definiraju razvojnu putanju kardiometaboličkih tragova ; (2) dinamične oznake koje se mijenjaju tijekom života ovisno o unutarnjim biološkim procesima i egzogenim stresorima pridonose razvoju kardiometaboličkih poremećaja kasnije u životu ; i (3) te epigenetičke oznake u interakciji sa genetičkom raznolikošću utječu na varijabilnost fenotipa. Za testiranje hipoteza iskoristili smo postojeću bazu od >1, 400 uzoraka koja sadrži fenotipske, okolišne, DNA i GWA podatke prikupljenu na otoku Hvaru 2007.-2008. godine te ponovo uzorkovali >700 osoba iz prethodne studije 10 godina kasnije (2017.). Također smo proveli EWAS koristeći novorazvijeni EPIC 850K BeadChip methylation array na uparenim uzorcima u dvije vremenske točke kako bi procijenili metilacijske uzorke i proveli integrativnu cjelogenomsku i cjeloepigenomsku analizu kako bi istražili njihov zajednički utjecaj na varijabilnost tragova pomoću pristupa sistemske biologije. REZULTATI: Nakon provođenja asocijacijske studije kardiometaboličkih tragova na razini cijelog epigenoma te integrativne cjelogenomske i cjeloepigenomske analize otkriven je relativno malen medijan beta-vrijednosti metilacijskih uzoraka tijekom10 godina. ZAKLJUČAK: Preliminarno istraživanje temeljeno na nasumično odabranih 112 parova (N=224) uzoraka pokazuju da je medijan beta-vrijednosti metilacijskih uzoraka tijekom 10 godina relativno malen što sugerira da su pronađene epigenetičke oznake stabilne značajke kardiometaboličkih tragova. Financirano od strane NIH, projekt broj R56HL128493.

Published
2018

47. Association of perfluoroalkyl substances exposure with cardiometabolic traits in an island population of the eastern Adriatic coast of Croatia

Author

Chen, Aimin, primary, Jandarov, Roman, additional, Zhou, Li, additional, Calafat, Antonia M., additional, Zhang, Ge, additional, Urbina, Elaine M., additional, Sarac, Jelena, additional, Augustin, Dubravka Havas, additional, Caric, Tonko, additional, Bockor, Luka, additional, Petranovic, Matea Zajc, additional, Novokmet, Natalija, additional, Missoni, Sasa, additional, Rudan, Pavao, additional, and Deka, Ranjan, additional

Published
2019
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