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Sofia, Bulgaria

Bichev S.N.,National Genetic Laboratory | Marinova D.M.,Medical University-Sofia | Slavova Y.G.,Sofia University | Savov A.S.,National Genetic Laboratory
Cellular Oncology | Year: 2015

Background: Epidermal growth factor receptor (EGFR) gene mutations are recurrently observed in non-small cell lung carcinomas (NSCLCs), and it has been found that they may serve as specific therapeutic targets. The aim of the present study was to determine the prevalence of EGFR gene mutations in NSCLCs in an East European (Bulgarian) population in different histological subtypes, in cytological versus histological samples and in primary versus metastatic lesions.Methods: In this study 1427 NSCLC samples were included. DNA was extracted from either formalin-fixed paraffin embedded (FFPE) tissues or cytology specimens and analyzed for the presence of 29 recurrent EGFR gene mutations using SARMS PCR.Results: EGFR gene mutations were found to occur significantly more often in female than in male patients (19.4 % vs. 5.4 %; p < 0.001), in adenocarcinomas than in squamous cell carcinomas or other histological subtypes (12.5 % vs. 6.2 %, and 7.6 %, respectively; p = 0.009), and in never smokers than in ex-smokers and current smokers (22.9 % vs. 8.5 % and 4.9 %, respectively; p < 0.001). No significant differences were observed in the occurrence of EGFR gene mutations in primary tumors compared to metastases (7.9 % vs. 11.2 %; p = 0.092), or in FFPE samples compared to cytological samples (8.9 % vs. 8.1 %; p = 0.813).Conclusions: Our data show that the overall frequency of EGFR gene mutations in lung adenocarcinomas in the East European cohort studied is within the range of that observed in North American and West European populations, but that its frequency in squamous cell carcinomas is higher than that in any population reported to date. All specimens appeared to be suitable for EGFR gene mutation analysis, irrespective nature or origin. © 2014, International Society for Cellular Oncology. Source

Lobo J.M.,CSIC - National Museum of Natural Sciences | Jimenez-Ruiz Y.,CSIC - National Museum of Natural Sciences | Chehlarov E.,Institute of Biodiversity and Ecosystem Research | Gueorguiev B.,Natural Museum of Natural History | And 4 more authors.
Zootaxa | Year: 2015

The phylogenetic placement of Jekelius brullei (Jekel, 1866) and J. punctulatus (Jekel, 1866) (Coleoptera: Geotrupidae) was assessed using mitochondrial and nuclear molecular data to discern contrasting nomenclatural views provided by López-Colón (1996) and the Catalogue of Palaearctic Coleoptera (Löbl et al. 2006). Our results support both the monophyletic and classification status of the genus Jekelius López-Colón, 1989; and the splitting of the genus into the subgenera Jekelius López-Colón, 1989 and Reitterius López-Colón, 1996. The basal phylogenetic placement of these two species also suggests an oriental origin for Jekelius within the western Palaearctic region. Finally, we include a potential distributional map of Jekelius (Reitterius) punctulatus (Jekel, 1866) based on an exhaustive search of occurrence data. © 2015 Magnolia Press. Source

Damyanova V.,Medical University-Sofia | Dimova I.,Medical University-Sofia | Savov A.,National Genetic Laboratory | Nesheva D.,Medical University-Sofia | And 6 more authors.
Biotechnology and Biotechnological Equipment | Year: 2013

Infertility affects 10 % to 15 % of all couples. In about 40 % of the cases the male factor is reported to be the main reason for unsuccessful fertilization. Although in 70 % of the male factor infertility cases the etiology is recognizable, in the remaining 30 % the reason is unknown and the male infertility is named idiopathic. In the current study, we selected 10 patients with idiopathic infertility, affected by azoospermia and oligoasthenoteratozoospermia. All patients were subjected to DNA analysis for deletions of the Y chromosome and cytogenetic analysis for chromosomal aberrations. After these analyses, the patients without such kind of abnormalities were further analyzed by microarray-based comparative genomic hybridization (array CGH). The cytogenetic analysis revealed two patients with chromosomal mutations - inv (9)(p11;q13) and t(Y;9)(q12.3;q21.1). Two other patients were detected to have deletions of the AZFc region of the Y chromosome. Thus, we applied array CGH analysis for the six patients without chromosomal or Y-chromosome aberrations. Apart from the presence of known polymorphisms, we established copy number alteration in 17q12-17q21.2 - a region containing the gene for zona pellucida binding protein ZPBP2. This protein plays a crucial role for the proper spermatogenesis. Our results prompted for investigation of this gene and protein as a potential candidate for spermatogenic failure. Source

Hristova M.,Medical University-Sofia | Dourmishev L.,Medical University-Sofia | Kamenarska Z.,Medical University-Sofia | Miteva L.,Medical University-Sofia | And 4 more authors.
International Journal of Immunogenetics | Year: 2014

Deficiency in some complement factors is known to cause both systemic lupus erythematosus (SLE) and dermatomyositis (DM). Mannose-binding lectin (MBL) is a recognition molecule of the lectin pathway, and its low levels are reported to influence some autoimmune diseases. Furthermore, MBL2 polymorphisms have been described associated with low MBL serum levels due to impaired MBL structure and function. This is a pilot study to investigate the role of MBL2-550G/C (H/L), -221G/C (Y/X), Arg52Cys (D), Gly54Asp (B), Gly57Glu (C) polymorphisms and MBL serum levels as a risk factor for a development of adult DM and SLE in Bulgarian patients. None of the studied MBL2 polymorphisms appeared associated with the diseases investigated. However, we have found an increased OR of MBL2-221XY genotype in the patients with SLE (OR 1.64, 95%CI 0.77-3.52). MBL2 polymorphisms seemed to affect MBL serum levels and to be associated with the clinical features although none of the associations remained statistically significant after Bonferroni correction. The-550L allele showed an association with electromyography findings in patients with DM. The-221XY genotype was associated with photosensitivity in patients with SLE. The 54AB genotype showed an association with malar rash in patients with SLE, but it appeared decreased among SLE patients with ANA. In conclusion, our results suggest that the MBL2 polymorphisms have rather a disease modifying role and they are not associated with the disease susceptibility in adult DM and SLE among Bulgarian patients. © 2013 John Wiley & Sons Ltd. Source

Kamenarska Z.,Medical University-Sofia | Dzhebir G.,Medical University-Sofia | Hristova M.,Medical University-Sofia | Savov A.,National Genetic Laboratory | And 4 more authors.
Dermatology Research and Practice | Year: 2014

Polymorphisms in the cytokine genes and their natural antagonists are thought to influence the predisposition to dermatomyositis (DM) and systemic lupus erythematosus (SLE). A variable number tandem repeat (VNTR) polymorphism of 86 bp in intron 2 of the interleukin-1 receptor antagonist (IL-1RN) gene leads to the existence of five different alleles which cause differences in the production of both IL-1RA (interleukin-1 receptor antagonist) and IL-1β. The aim of this case-control study was to investigate the association between the IL-1RN VNTR polymorphism and the susceptibility to DM and SLE in Bulgarian patients. Altogether 91 patients, 55 with SLE and 36 with DM, as well as 112 unrelated healthy controls, were included in this study. Only three alleles were identified in both patients and controls ((1) four repeats, (2) two repeats, and (3) five repeats). The IL-1RN∗2 allele (P = 0.02, OR 2.5, and 95% CI 1.2-5.4) and the 1/2+2/2 genotypes were found prevalent among the SLE patients (P = 0.05, OR 2.6, and 95% CI 1-6.3). No association was found between this polymorphism and the ACR criteria for SLE as well as with the susceptibility to DM. Our results indicate that the IL-1RN VNTR polymorphism might play a role in the susceptibility of SLE but not DM. Copyright © 2014 Zornitsa Kamenarska et al. Source

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