1. Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women.

    JAMA Psychiatry 73(5):497 (2016) PMID 27007234

    A recently published study of national data by McGrath et al in 2014 showed increased risk of schizophrenia (SCZ) in offspring associated with both early and delayed parental age, consistent with a U-shaped relationship. However, it remains unclear if the risk to the child is due to psychosocial...
  2. MicroRNA Profiling in Patients with Upper Tract Urothelial Carcinoma Associated with Balkan Endemic Nephropathy.

    BioMed Research International 2016:7450461 (2016) PMID 27218105 PMCID PMC4863087

    Balkan endemic nephropathy (BEN) is a disease that affects people that live in the alluvial plains along the tributaries of the Danube River in the Balkan region. BEN is a chronic tubulointerstitial disease with a slow progression to terminal renal failure and has strong association with upper t...
  3. The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape

    Current Biology 25(21):2878 (2015)

  4. The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape.

    Current Biology 25(19):2518 (2015) PMID 26387712 PMCID PMC4714572

    Over the past few years, studies of DNA isolated from human fossils and archaeological remains have generated considerable novel insight into the history of our species. Several landmark papers have described the genomes of ancient humans across West Eurasia, demonstrating the presence of large-...
  5. Global diversity, population stratification, and selection of human copy-number variation.

    Science 349(6253):aab3761 (2015) PMID 26249230 PMCID PMC4568308

    In order to explore the diversity and selective signatures of duplication and deletion human copy-number variants (CNVs), we sequenced 236 individuals from 125 distinct human populations. We observed that duplications exhibit fundamentally different population genetic and selective signatures th...
  6. Bladder cancer risk from the perspective of genetic polymorphisms in the carcinogen metabolizing enzymes.

    Journal of B.U.ON. : official journal of the Ba... 20(6):1397 (2015) PMID 26854433

    Urinary bladder cancer is a socially significant healthcare problem. A diverse array of aromatic and heterocyclic amines, derived from the chemical and transport industry, diet, and cigarette smoke are considered carcinogens for the bladder. To exert their carcinogenic effect and to initiate the...
  7. Changes in the gene expression profile of the bladder cancer cell lines after treatment with Helix lucorum and Rapana venosa hemocyanin.

    Journal of B.U.ON. : official journal of the Ba... 20(1):180 (2015) PMID 25778314

    The purpose of this study was to elucidate the mechanism of action of the Helix lucorum hemocyanin (HlH), b-HlH-h, and RvH2-g hemocyanins as potential agents against bladder cancer. We evaluated the viability of 647-V, T-24, and CAL-29 bladder cancer cell lines after treatment with the tested he...
  8. Balkan nephropathy.

    Clinical Nephrology 83(7 Suppl 1):64 (2015) PMID 25725245

    Balkan endemic nephropathy (BN), frequently associated to upper urothelial cancer, is a familial chronic tubulointerstitial disease with insidious onset and slow progression to end-stage renal disease. After 60 years of research, its cause remains the major unanswered question. Etiology assumes ...
  9. HPV prevalence and type distribution in women with normal or abnormal Pap smear in Bulgaria.

    Journal of Medical Virology 86(11):1905 (2014) PMID 25059991

    Human papillomavirus (HPV) is a well-known pathogen for lower genital tract neoplasias, yet little is known regarding HPV prevalence in Bulgaria. The aim of this study was to investigate the prevalence of HPV DNA and to determine HPV types distribution among women with normal and abnormal cytolo...
  10. Ancient human genomes suggest three ancestral populations for present-day Europeans.
    Iosif Lazaridis, Nick Patterson, Alissa Mittnik, Gabriel Renaud, Swapan Mallick, Karola Kirsanow, Peter H Sudmant, Joshua G Schraiber, Sergi Castellano, Mark Lipson, Bonnie Berger, Christos Economou, Ruth Bollongino, Qiaomei Fu, Kirsten I Bos, Susanne Nordenfelt, Heng Li, Cesare de Filippo, Kay Prüfer, Susanna Sawyer, Cosimo Posth, Wolfgang Haak, Fredrik Hallgren, Elin Fornander, Nadin Rohland, Dominique Delsate, Michael Francken, Jean-Michel Guinet, Joachim Wahl, George Ayodo, Hamza A Babiker, Graciela Bailliet, Elena Balanovska, Oleg Balanovsky, Ramiro Barrantes, Gabriel Bedoya, Haim Ben-Ami, Judit Bene, Fouad Berrada, Claudio M Bravi, Francesca Brisighelli, George J Busby, Francesco Cali, Mikhail Churnosov, David E Cole, Daniel Corach, Larissa Damba, George van Driem, Stanislav Dryomov, Jean-Michel Dugoujon, Sardana A Fedorova, Irene Gallego Romero, Marina Gubina, Michael Hammer, Brenna M Henn, Tor Hervig, Ugur Hodoglugil, Aashish R Jha, Sena Karachanak-Yankova, Rita Khusainova, Elza Khusnutdinova, Rick Kittles, Toomas Kivisild, William Klitz, Vaidutis Kučinskas, Alena Kushniarevich, Leila Laredj, Sergey Litvinov, Theologos Loukidis, Robert W Mahley, Béla Melegh, Ene Metspalu, Julio Molina, Joanna Mountain, Klemetti Näkkäläjärvi, Desislava Nesheva, Thomas Nyambo, Ludmila Osipova, Jüri Parik, Fedor Platonov, Olga Posukh, Valentino Romano, Francisco Rothhammer, Igor Rudan, Ruslan Ruizbakiev, Hovhannes Sahakyan, Antti Sajantila, Antonio Salas, Elena B Starikovskaya, Ayele Tarekegn, Draga Toncheva, Shahlo Turdikulova, Ingrida Uktveryte, Olga Utevska, René Vasquez, Mercedes Villena, Mikhail Voevoda, Cheryl A Winkler, Levon Yepiskoposyan, Pierre Zalloua, Tatijana Zemunik, Alan Cooper, Cristian Capelli, Mark G Thomas, Andres Ruiz-Linares, Sarah A Tishkoff, Lalji Singh, Kumarasamy Thangaraj, Richard Villems, David Comas, Rem Sukernik, Mait Metspalu, Matthias Meyer, Evan Eichler, Joachim Burger, Montgomery Slatkin, Svante Pääbo, Janet Kelso, David Reich, and Johannes Krause

    Nature 513(7518):409 (2014) PMID 25230663 PMCID PMC4170574

    We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differenti...
  11. Gene expression in peripheral blood of patients with hypertension and patients with type 2 diabetes.

    Journal of Cardiovascular Medicine 15(9):702 (2014) PMID 23337395

    To evaluate the expression of atherosclerosis-associated genes in patients with hypertension and type 2 diabetes mellitus. Twenty-seven patients (14 men, 13 women), mean age 43.26 ± 11.69 years, were included in the study, which was divided into three groups: group 1 - patients with newly diagno...
  12. FoxP3 demethylation is increased in human colorectal cancer and rat cholangiocarcinoma tissue.

    Clinical Biochemistry 47(3):201 (2014) PMID 24291052

    FoxP3 expression is a marker for Tregs which are known to be involved in tumor immunity. We aimed to evaluate FoxP3 promoter demethylation in human colorectal cancer (CRC) and rat intrahepatic cholangiocarcinoma (ICC). Bisulfite-treated genomic DNA templates of shock frozen paired samples were s...
  13. Methylation analysis on whole genome level. What did we learn from BEN studies?

    Contributions. Section of Medical Sciences 35(1):17 (2014) PMID 24798592

    Recent years have brought the interest of genetic research to the human epigenome. Its unique characteristics--being simultaneously stable and dynamic, present vast opportunities for cell function regulation, maintaining and executing different cell type programmes. Greatest efforts were investe...
  14. In vitro antiproliferative effect of Helix aspersa hemocyanin on multiple malignant cell lines.

    Zeitschrift fuer Naturforschung. Section C 69(7-8):325 (2014) PMID 25265853

    As an extension of our studies on the antitumour properties of various hemocyanins, we sought to compare the antiproliferative effects of hemocyanins derived from two snail species: Helix lucorum (HIH) and Helix aspersa (HaH). This is the first report on the antitumour effects of HaH. We hypothe...
  15. New generation genomic platforms in investigation of complex diseases and BEN.

    Contributions. Section of Medical Sciences 35(1):25 (2014) PMID 24798593

    New generation genomic platforms enable us to decipher the complex genetic basis of complex diseases and Balkan Endemic Nephropathy (BEN) at a high-throughput basis. They give valuable information about predisposing Single Nucleotide Polymorphisms (SNPs), Copy Number Variations (CNVs) or Loss of...
  16. Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity.

    European Journal of Human Genetics 21(6):659 (2013) PMID 23249956 PMCID PMC3658181

    Population genetic studies on European populations have highlighted Italy as one of genetically most diverse regions. This is possibly due to the country's complex demographic history and large variability in terrain throughout the territory. This is the reason why Italy is enriched for populati...
  17. Whole genome methylation array analysis reveals new aspects in Balkan endemic nephropathy etiology.

    BMC Nephrology 14:225 (2013) PMID 24131581 PMCID PMC3852817

    Balkan endemic nephropathy (BEN) represents a chronic progressive interstitial nephritis in striking correlation with uroepithelial tumours of the upper urinary tract. The disease has endemic distribution in the Danube river regions in several Balkan countries.DNA methylation is a primary epigen...
  18. Y-chromosome diversity in modern Bulgarians: new clues about their ancestry.

    PLoS ONE 8(3):e56779 (2013) PMID 23483890 PMCID PMC3590186

    To better define the structure and origin of the Bulgarian paternal gene pool, we have examined the Y-chromosome variation in 808 Bulgarian males. The analysis was performed by high-resolution genotyping of biallelic markers and by analyzing the STR variation within the most informative haplogro...
  19. Distinguishing the co-ancestries of haplogroup G Y-chromosomes in the populations of Europe and the Caucasus.

    European Journal of Human Genetics 20(12):1275 (2012) PMID 22588667 PMCID PMC3499744

    Haplogroup G, together with J2 clades, has been associated with the spread of agriculture, especially in the European context. However, interpretations based on simple haplogroup frequency clines do not recognize underlying patterns of genetic diversification. Although progress has been recently...
  20. Bulgarians vs the other European populations: a mitochondrial DNA perspective.

    International Journal of Legal Medicine 126(4):497 (2012) PMID 21674295

    To define the matrilineal relationships between Bulgarians and other European populations, we have evaluated the mitochondrial DNA (mtDNA) variation in a sample of 855 Bulgarian subjects from the mtDNA perspective. The molecular survey was performed by sequencing ∼750 bp of the control region, w...