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Open access

Borut Peterlin and A Maver

ABSTRACT

The combination of improving technologies for molecular interrogation of global molecular alterations in human diseases along with increases in computational capacity, have enabled unprecedented insight into disease etiology, pathogenesis and have enabled new possibilities for biomarker development. A large body of data has accumulated over recent years, with a most prominent increase in information originating from genomic, transcriptomic and proteomic profiling levels. However, the complexity of the data made discovery of highorder disease mechanisms involving various biological layers, difficult, and therefore required new approaches toward integration of such data into a complete representation of molecular events occurring on cellular level. For this reason, we developed a new mode of integration of results coming from heterogeneous origins, using rank statistics of results from each profiling level. Due to the increased use of nextgeneration sequencing technology, experimental information is becoming increasingly more associated to sequence information, for which reason we have decided to synthesize the heterogeneous results using the information of their genomic position. We therefore propose a novel positional integratomic approach toward studying ‘omic’ information in human disease.

Open access

Peterlin A, Maver A, Jan Z, Lovrecic L, Tul N and Peterlin B

Abstract

The β-2-adrenergic receptor (ADRB2) gene has an important impact on smooth muscle relaxation, including the smooth muscles of the uterus. The results of previously published studies of the association between the ADRB2 rs1042713 polymorphism and spontaneous preterm birth (SPTB) were inconsistent. We evaluated the association between ADRB2 and SPTB in a case-control association study in a Slovenian sample population and performed a meta analysis of previously published studies. No association was found between the polymorphism in the ADRB2 gene and SPTB in the Slovenian sample of 98 SPTB patients and 135 controls under dominant [χ2 = 0.01, p = 0.92, odds ratio (OR) = 1.03, 95% confidence interval (95% CI) = 0.52-2.04), recessive (χ2 = 0.01, p = 0.92, OR = 0.98, 95% CI = 0.57-1.70) and codominant genetic models (χ2 = 0.01, p = 0.92, OR = 0.99, 95% CI = 0.59-1.68). The meta analysis of a pooled sample of 404 SPTB patients and 878 controls suggested no association of ADRB2 polymorphism and SPTB under dominant (OR = 1.12, 95% CI = 0.81-1.54) and recessive genetic models (OR = 0.84, 95% CI = 0.64-1.12). These findings suggest no association between the ADRB2 rs1042713 gene polymorphism and SPTB. Further association studies with larger sample sizes are needed.

Open access

B Zalar, A Blatnik, A Maver, Z Klemenc-Ketiš and B Peterlin

Abstract

Depression is estimated to affect 350 million people worldwide. The World Mental Health Survey conducted in 17 countries found that, on average, about one in 20 people reported having an episode of depression in the previous year. Although depression has been shown to be moderately heritable by studies conducted in the past, the search for its so-called missing heritability has so far been unsuccessful. The difficulty in identifying common genetic variants predisposing to depression could be due to large sample sizes needed to detect small effects on genetic risk and the heterogeneous nature of major depressive disorder (MDD). The aim of our study was to determine whether there was a connection between a family history of depression in MDD patients and the presence of putative risk variants in the well-studied SLC6A4, COMT and PCLO genes. We analyzed 133 patients with MDD (30.0% with a positive family history for MDD and 70.0% sporadic cases) and compared them to 279 healthy controls. When comparing all the depressed patients to controls, no significant differences in genotype and allele distributions were detected. After stratifying patients according to their family history, the PCLO rs2522833 C allele was shown to be significantly less common in patients with a positive family history (p = 0.001), indicating a possible difference in the genetic structure of MDD between familial and sporadic cases and a less important role of the common genetic risk variants for the development of MDD in familial cases.

Open access

Zalika Klemenc-Ketiš and Borut Peterlin

Abstract

This multicentre, cross-sectional observational study aimed to determine the prevalence of depression among the working population of Slovenia and identify factors correlating with higher prevalence of depression. It was conducted in three occupational medicine practices within major Slovenian primary health care centres. The study population consisted of 1,474 respondents [73.7 % of the invited participants, 889 (60.3 %) men and 585 (39.7 %) women with mean age of (40.5±9.8) years] who visited these practices for their regular check-ups from November 2010 to June 2012 and were asked to fill in a self-developed questionnaire and score depression on the Zung’s self-rating depression scale. According to the rating, 50 (3.4 %) respondents suffered from depression. In the multivariate analysis, depression correlated with the following independent variables: self-perceived exposure to chronic stress, positive family history of depression, and primary school education.

Open access

David Stubljar, Samo Jeverica, Tomislav Jukic, Miha Skvarc, Tadeja Pintar, Bojan Tepes, Rajko Kavalar, Borut Stabuc, Borut Peterlin and Alojz Ihan

Abstract

Background. Helicobacter pylori infection is the main cause of gastric cancer. The disease progression is influenced by the host inflammatory responses, and cytokine single nucleotide polymorphisms (SNPs) may have a role in the course of the disease. The aim of our study was to investigate proinflammatory cytokine polymorphisms, previously associated with the development of gastric cancer, in a Slovenian population.

Patients and methods. In total 318 patients and controls were selected for the study and divided into three groups: (i) patients with gastric cancer (n = 58), (ii) patients with chronic gastritis (n = 60) and (iii) healthy control group (n = 200). H. pylori infection in patient groups was determined by serology, histology and culture. Four proinflammatory gene polymorphisms were determined (IL-1β, IL-1rα, TNF-α, TLR-4) in all subjects.

Results. We found a statistically significant difference between males and females for the groups (p = 0.025). Odds ratio (OR) for gastric cancer risk for females was 0.557 (95% confidence interval [CI]: 0.233―1.329) and for chronic gastritis 2.073 (95% CI: 1.005―4.277). IL-1B-511*T/T homozygous allele for cancer group had OR = 2.349 (95% CI: 0.583―9.462), heterozygous IL-1B-511*T had OR = 1.470 (95% CI: 0.583―3.709) and heterozygotes in TNF-A-308 genotype for chronic gastritis had OR = 1.402 (95% CI: 0.626―3.139). Other alleles had OR less than 1.

Conclusions. We could not prove association between gastric cancer and chronic gastritis due to H. pylori in any cytokine SNPs studied in Slovenian population. Other SNPs might be responsible besides infection with H. pylori for the progression from atrophy to neoplastic transformation.