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Katja Goričar, Viljem Kovač, Janez Jazbec, Janez Lamovec and Vita Dolžan


Background: DNA repair mechanisms are essential for maintaining genome stability, and genetic variability in DNA repair genes may contribute to cancer susceptibility. Our aim was to evaluate the influence of polymorphisms in the homologous recombination repair genes XRCC3, RAD51, and NBN on the risk for osteosarcoma.

Methods: In total, 79 osteosarcoma cases and 373 controls were genotyped for eight single nucleotide polymorphisms (SNPs) in XRCC3, RAD51, and NBN. Logistic regression was used to determine the association of these SNPs with risk for osteosarcoma.

Results: None of the investigated SNPs was associated with risk for osteosarcoma in the whole cohort of patients, however, in patients diagnosed before the age of thirty years XRCC3 rs861539 C>T and NBN rs1805794 G>C were associated with significantly decreased risk for osteosarcoma (P=0.047, OR=0.54, 95% CI=0.30-0.99 and P=0.036, OR=0.42, 95% CI=0.19-0.94, respectively). Moreover, in the carriers of a combination of polymorphic alleles in both SNPs risk for osteosarcoma was decreased even more significantly (Ptrend=0.007). The risk for developing osteosarcoma was the lowest in patients with no wild-type alleles for both SNPs (P=0.039, OR=0.31, 95% CI=0.10-0.94).

Conclusions: Our results suggest that polymorphisms in homologous recombination repair genes might contribute to risk for osteosarcoma in patients diagnosed below the age of thirty years.

Open access

Ivana Novaković, Nela Maksimović, Slobodan Cvetković and Dragana Cvetković

Gene Polymorphisms as Markers of Disease Susceptibility

The most widespread diseases of modern man have a polygenic basis, including genetic predisposition and factors in the external environment. Such is the case with cardiovascular disease, malignancy, diabetes and so on. It should be borne in mind that risk factors usually include disorders that are themselves multifactorial, which further indicates the complexity of pathophysiological mechanisms. In the investigation of genetic factors in polygenic diseases studies are underway to determine the association with specific gene polymorphisms. Genetic or DNA polymorphisms are differences in the hereditary basis which are normally found in human populations. The human genome consists of 3×109 nucleotide (base) pairs, and it is considered that, on average, every 1000th nucleotide is polymorphic, i.e. varies between two loci or two individuals. The most common type of gene polymorphisms is the single nucleotide polymorphism (SNP). Although gene polymorphisms are an expression of normal variations in the hereditary basis, their effect on the phenotype is interesting, especially the association with proneness to certain diseases. Association studies examine the incidence of certain genetic variants, i.e. genetic polymorphisms in a group of patients, and compare it with the data of a healthy population. The results are often contradictory, so the number of polymorphisms whose role as markers of genetic predisposition has been clearly confirmed is still small. In this paper we review literature data and present experiences from our laboratory in studying genetic polymorphisms as susceptibility factors for the occurrence of thrombophilia and atherosclerosis and its clinical manifestations.

Open access

Rodney J. Pollitt


Newborn blood-spot screening to detect potentially treatable disorders is widely practiced across the globe. However, there are great variations in practice, both in terms of disorders covered, screening technologies, disease definition, information provision, parental informed consent, and storage and disposal of residual specimens, partly reflecting the degree to which screening is the subject of explicit legislation (and thus public and media pressure) or is embedded in a general health care system and managed at an executive level. It is generally accepted that disorders to be screened for should comply with the ten Wilson and Jungner criteria, but the way that compliance is assessed ranges from broadly-based opinion surveys to detailed analysis of quantitative data. Consequently, even countries with comparable levels of economic development and health care show large differences in the number of disorders screened for. There are several areas on which there are no generally accepted guidelines: how should parents be informed about screening and to what extent should they be encouraged to regard screening as an option to choose to refuse? Is DNA mutation analysis acceptable as part of a screening protocol? How soon should the blood samples be destroyed once screening has been completed? As technology advances and the potential scope of screening expands at both the metabolite and genome level, challenging policy issues will have to be faced.

Open access

Gordana Kocić

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Maryam Ghaffarzadeh, Hamid Ghaedi, Behnam Alipoor, Mir Davood Omrani, Faranak Kazerouni, Mehrnoosh Shanaki, Afsaneh Labbaf, Hossein Pashaiefar and Ali Rahimipour

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Yan-Qiu Chen, Xiao-Fan Guo, Chang-Tian Li and Yu Li

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Tomoko Shiino, Takayoshi Koide, Itaru Kushima, Masashi Ikeda, Shohko Kunimoto, Yukako Nakamura, Akira Yoshimi, Branko Aleksic, Masahiro Banno, Tsutomu Kikuchi, Kunihiro Kohmura, Yasunori Adachi, Naoko Kawano, Takashi Okada, Toshiya Inada, Hiroshi Ujike, Tetsuya Iidaka, Michio Suzuki, Nakao Iwata and Norio Ozaki

.1 are associated with schizophrenia. Nature 2009; 460: 753-7. 9. Purcell SM, Wray NR, Stone JL, Visscher PM, O’Donovan MC, Sullivan PF, et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009; 460: 748-52. 10. Ng MY, Levinson DF, Faraone SV, Suarez BK, DeLisi LE, Arinami T, et al. Meta-analysis of 32 genome-wide linkage studies of schizophrenia. Mol Psychiatry 2009; 14: 774-85. 11. Li J, Zhou G, Ji W, Feng G, Zhao Q, Liu J, et al. Common variants in the BCL9 gene

Open access

Verica Milošević and Nikola Tanić

E. Human genome 10th anniversary. Waiting for the revolution. Science 2011; 331: 526–9.

Open access

Tatjana Pekmezović

. Hu D, Ziv E. Confounding in genetic association studies and its solutions. Methods Mol Biol 2008; 448: 31-9. Wang K. Testing for genetic association in the presence of population stratification in genome-wide association studies. Genet Epidemiol 2009; 33 (7): 637-45. Novaković I, Maksimović N, Cvetković S, Cvetković D. Gene Polymorphiosms as markers of disease susceptibility. Journal of Medical Biochemistry 2010; 29: 135-8. Ćorić V, Plješa-Ercegovac M, Matić M, Krivić M, Šuvakov S, Tulić

Open access

Jérôme Zoidakis, Ploumisti Dimitraki, Panagiotis Zerefos and Antonia Vlahou

, Zhang Y, Olsen JV, Mann M. The human urinary proteome contains more than 1500 proteins, including a large proportion of membrane proteins. Genome Biol 2006; 7 (9): R80. Good DM, Thongboonkerd V, Novak J, Bascands JL, Schanstra JP, Coon JJ, Dominiczak A, Mischak H. Body fluid proteomics for biomarker discovery: lessons from the past hold the key to success in the future. J Proteome Res 2007; 6: 4549-55.