Rifet Terzić

Phylogeography of Y-Chromosome Haplogroup I Reveals Distinct Domains of Prehistoric Gene Flow in Europe

To investigate which aspects of contemporary human Y-chromosome variation in Europe are characteristic of primary colonization, late-glacial expansions from refuge areas, Neolithic dispersals, or more recent events of gene flow, we have analyzed, in detail, haplogroup I (Hg I), the only major clade of the Y phylogeny that is widespread over Europe but virtually absent elsewhere. The analysis of 1,104 Hg I Y chromosomes, which were identified in the survey of 7,574 males from 60 population samples, revealed several subclades with distinct geographic distributions. Subclade I1a accounts for most of Hg I in Scandinavia, with a rapidly decreasing frequency toward both the East European Plain and the Atlantic fringe, but microsatellite diversity reveals that France could be the source region of the early spread of both I1a and the less common I1c. Also, I1b*, which extends from the eastern Adriatic to eastern Europe and declines noticeably toward the southern Balkans and abruptly toward the periphery of northern Italy, probably diffused after the Last Glacial Maximum from a homeland in eastern Europe or the Balkans. In contrast, I1b2 most likely arose in southern France/Iberia. Similarly to the other subclades, it underwent a postglacial expansion and marked the human colonization of Sardinia approximately 9,000 years ago.

Sex Difference in the Effect of ACE-DD Genotype on the Risk of Premature Myocardial Infarction

In this association study the authors compared the insertion/deletion (I/D) angiotensin-I converting enzyme (ACE) gene polymorphism in females and males with premature myocardial infarction (MI). I/D ACE gene polymorphism was tested in 738 subjects: 302 patients with MI (151 men and 151 women) and 436 healthy subjects (207 men and 229 women). In women the ACE-DD genotype was not associated with MI (OR 1.1, 95% CI 0.6-2.1, p=0.6), whereas the ACE-DD genotype conferred a 2-fold independent risk for MI in men (95% CI=1.2-3.4; p=0.013) after adjustment for cardiovascular risk factors. The authors found evidence for the sex difference in the effect of the ACE-DD genotype on MI risk. The ACE-DD genotype conferred a 2-fold independent risk for premature MI in males.

Identifying candidate genes for Parkinson’s disease by integrative genomics method

INTRODUCTION The recent studies of Parkinsons disease (PD) indicate that genetics and environmental factors may play an important role in developing of PD. Nowadays, the cell death and cell adhesion are pathogenetic mechanisms which could be related with PD. On the basis of relationship of those mechanisms with PD, the aim of this study was to identify new candidate genes for PD by integration of results of transcriptomics studies and results obtained by Biomedical Discovery Support System (BITOLA). MATERIALS AND METHODS For the detection of functional relationship between potential candidate gene and pathogenetic mechanisms associated with PD, we designed strategy of integration of results of transcriptomics studies with discovery approach in bibliographic data bases and BITOLA. Data of chromosome location, tissue-specific expression, function of potential candidate genes and their association with genetics disorders were obtained from Medline, Locus Link, Gene Cards and OMIM. RESULTS Integration and comparison of results obtained using the BITOLA system and analysis of transcriptomics studies identified six genes (MAPT, UCHL1, NSF, CDC42, PARK2 and GFPT1) that occur simultaneously in both group of results. The function of genes NSF, CDC42 and GFPT1 in the pathogenesis of PD has not been studied yet. CONCLUSIONS According to our result that aforementioned genes appeared in both groups of results and partially match the criteria set for the selection of candidate genes and their potential role in the development of PD, they should be tested by methods specifically intended for those three genes.

A European project on health problems, mental disorders and cross-cultural aspects of developing effective rehabilitation procedures for refugee and immigrant youth.

The project is an international comparative study on risk and protective factors of adolescent health and well-being, with particular focus on youth with immigrant (or refugee) experience. This is a comprehensive study on the quality of life and health outcomes of adolescent youth that looks at group-specific differences within different socio-cultural contexts across six European countries, including those of post-conflict communities. The research project combines both quantitative and qualitative methods, using a common set up across all countries involved with the goal of collecting data on 3500 adolescents that are strictly comparable to allow cross-country analyses. It is particularly aimed at increasing the understanding of acculturation processes of a particularly sensitive population of adolescent refugees and immigrants and of the influence that the interaction of contextual and developmental factors has on their mental health and psychological well-being.

Polymorphisms of interleukin-8 and -18 genes and diabetic retinopathy.

We evaluated possible roles of interleukin-8 gene polymorphisms (1633T/C-rs2227543, 251A/T-rs4073) and interleukin-18 gene polymorphisms (-607C/A-rs1946518, -137G/C-rs187238) in the development of diabetic retinopathy (DR) in Caucasians with type 2 diabetes. 271 patients with DR and 113 without diabetic retinopathy were enrolled in this cross-sectional study. We did not observe an association between either interleukin-8 gene polymorphisms (1633T/C, 251A/T) or interleukin-18 gene polymorphisms (-607C/A, -137G/C) and diabetic retinopathy in Caucasians with type 2 diabetes. We did not find statistically significant differences in interleukin-8 serum levels between diabetics with the TT and AA genotype and those with other genotypes. The interleukin-18 serum levels between diabetics with the CC genotype of the -607C/A polymorphism and those with other genotypes (AA, AC) were not significantly different. Moreover, we did not observe a statistically significant effect of the tested polymorphisms of either interleukin-8 or interleukin-18 genes on serum levels in diabetics. In conclusion, our study indicates that the examined polymorphisms of interleukin-8 (1633T/C, 251A/T) and interleukin-18 (-607C/A or the -137G/C) genes are not genetic risk factors for diabetic retinopathy. Therefore, they may not be used as genetic markers for diabetic retinopathy in Caucasians with type 2 diabetes.

Vascular endothelial growth factor (VEGF)-related single nucleotide polymorphisms rs10738760 and rs6921438 are not associated with diabetic retinopathy (DR) in Slovenian patients with type 2 diabetes mellitus (T2DM)

Diabetic retinopathy (DR) is a complication of diabetes characterized by vascular permeability, increased tissue ischemia, and angiogenesis. One of the most important proteins involved in angiogenesis is vascular endothelial growth factor (VEGF, also known as VEGFA). A previous study demonstrated that two single nucleotide polymorphisms (SNPs), rs6921438 and rs10738760, account for nearly half the variation in circulating VEGF levels. The aim of our study was to assess the association between rs6921438 and rs10738760 and DR in Slovenian patients with type 2 diabetes mellitus (T2DM). This case-control study enrolled 1037 unrelated Slovenian individuals (Caucasians) with T2DM. DR group included 415 T2DM patients with DR, while control group included 622 T2DM patients with no clinical signs of DR. The clinical and laboratory data were obtained from the medical records of the patients. The genotyping of rs6921438 and rs10738760 SNPs was carried out with real-time PCR assays. Significant differences were observed between patients with DR and controls in the duration of diabetes (p < 0.001), insulin therapy (p < 0.001), glycated hemoglobin (p = 0.001), body mass index (p = 0.002), total cholesterol (p = 0.002), and low-density lipoprotein cholesterol (p < 0.001). However, we did not observe significant differences in the genotype and allele distribution of the two SNPs, between DR and control group (p < 0.05). Logistic regression analysis showed that rs6921438 and rs10738760 were not independent genetic risk factors for DR in the co-dominant model adjusted for the above-mentioned clinical and laboratory data. In conclusion, VEGF-related SNPs rs10738760 and rs6921438 are not associated with DR in our group of Slovenian patients (Caucasians) with T2DM.