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Background Exposure to perfluoroalkyl substances (PFAS), ubiquitous environmental contaminants, may be related to cardiometabolic diseases in adults. Studies in European populations to examine the association of PFAS exposure and comprehensive cardiometabolic traits and metabolic syndrome (MetS) are limited. Methods In this pilot cross-sectional study of a well-characterized adult population of the island of Hvar, situated off the eastern Adriatic coast of Croatia, we measured PFAS concentrations in plasma samples collected during 2007–2008 and examined their cross-sectional associations with cardiometabolic traits and MetS after adjustment of covariates (n = 122). PFAS investigated in this study included perfluorooctane sulfonic acid (PFOS), perfluorooctanoic acid (PFOA), perfluorohexane sulfonic acid (PFHxS), and perfluorononanoic acid (PFNA). Results The geometric mean (range) was 8.91 (2.36, 33.67) ng/mL for PFOS, 2.87 (1.03, 8.02) ng/mL for PFOA, 0.77 (0.25, 2.40) ng/mL for PFHxS, and 1.29 (0.48, 3.46) ng/mL for PFNA, with frequency of detection at 100%, 100%, 95.9%, and 100%, respectively. PFOS, PFOA, and PFNA concentrations were positively associated with the risk of MetS as defined by the Adult Treatment Panel III (ATP III) criteria, with estimated odds ratios and 95% confidence intervals at 1.89 (0.93, 3.86), 2.19 (0.88, 5.44), and 2.95 (1.12, 7.80), respectively, with only PFNA reaching statistical significance. PFNA concentrations were associated with increased risk of overweight or obesity. Conclusions Background exposure to PFOS, PFOA, and PFNA was marginally associated with increased risk of MetS in this small study, and these results should be confirmed with a larger sample size and longitudinal follow-up.

Maternal nutrition and lifestyle in pregnancy are important modifiable factors for both maternal and offspring&rsquo, s health. Although the Mediterranean diet has beneficial effects on health, recent studies have shown low adherence in Europe. This study aimed to assess the Mediterranean diet adherence in 266 pregnant women from Dalmatia, Croatia and to investigate their lifestyle habits and regional differences. Adherence to the Mediterranean diet was assessed through two Mediterranean diet scores. Differences in maternal characteristics (diet, education, income, parity, smoking, pre-pregnancy body mass index (BMI), physical activity, contraception) with regards to location and dietary habits were analyzed using the non-parametric Mann&ndash, Whitney U test. The machine learning approach was used to reveal other potential non-linear relationships. The results showed that adherence to the Mediterranean diet was low to moderate among the pregnant women in this study, with no significant mainland&ndash, island differences. The highest adherence was observed among wealthier women with generally healthier lifestyle choices. The most significant mainland&ndash, island differences were observed for lifestyle and socioeconomic factors (income, education, physical activity). The machine learning approach confirmed the findings of the conventional statistical method. We can conclude that adverse socioeconomic and lifestyle conditions were more pronounced in the island population, which, together with the observed non-Mediterranean dietary pattern, calls for more effective intervention strategies.

Objectives The research objective of this study is to enlarge and deepen the Y chromosome research on the Croatian population and enable additional insights into the population diversity and historic events that shaped the current genetic landscape of Croatia and Southeastern Europe (SEE). Materials and Methods A high-resolution phylogenetic and phylogeographic analysis of 66 biallelic (SNPs) and 17 microsatellite (STRs) markers of the Y chromosome was performed using 720 Croatian samples. The obtained results were placed in a wider European context by comparison with ∼4450 samples from a number of other European populations. Results A high diversity of haplogroups was observed in the overall Croatian sample, and all typical European Y chromosome haplogroups with corresponding clinal patterns were observed. Three distinct genetic signals were identifiable in the Croatian paternal gene pool - I2a1b-M423, R1a1a1b1a*-M558, and E1b1b1a1b1a-V13 haplogroups. Discussion The analyses of the dominant and autochthonous I2a1b-M423 lineage (>30%) suggest that SEE had a significant role in the Upper Paleolithic, the R1a1a1b1a*-M558 lineage (19%) represents a signal from present day Slavic populations of Central Europe in the Croatian population, and the phylogeography of the E1b1b1a1b1a-V13 clade (around 9%) implies cultural diffusion of agriculture into Europe via the Balkan Peninsula. Am. J. Hum. Biol., 2016. © 2016 Wiley Periodicals, Inc. Am. J. Hum. Biol. 28:837–845, 2016. © 2016Wiley Periodicals, Inc.

Cardiovascular diseases are the main cause of death worldwide. The aim of the present study is to verify the performances of a data mining methodology in the evaluation of cardiovascular risk in athletes, and whether the results may be used to support clinical decision making. Anthropometric (height and weight), demographic (age and sex) and biomedical (blood pressure and pulse rate) data of 26,002 athletes were collected in 2012 during routine sport medical examinations, which included electrocardiography at rest. Subjects were involved in competitive sport practice, for which medical clearance was needed. Outcomes were negative for the largest majority, as expected in an active population. Resampling was applied to balance positive/negative class ratio. A decision tree and logistic regression were used to classify individuals as either at risk or not. The receiver operating characteristic curve was used to assess classification performances. Data mining and resampling improved cardiovascular risk assessment in terms of increased area under the curve. The proposed methodology can be effectively applied to biomedical data in order to optimize clinical decision making, and&mdash, at the same time&mdash, minimize the amount of unnecessary examinations.

High mtDNA variation in Southeastern Europe (SEE) is a reflection of the turbulent and complex demographic history of this area, influenced by gene flow from various parts of Eurasia and a long history of intermixing. Our results of 1035 samples (488 from Croatia, 239 from Bosnia and 130 from Herzegovina, reported earlier, and 97 Slovenians and 81 individuals from Žumberak, reported here for the first time) show that the SEE maternal genetic diversity fits within a broader European maternal genetic landscape. The study also shows that the population of Žumberak, located in the continental part of Croatia, developed some unique mtDNA haplotypes and elevated haplogroup frequencies due to distinctive demographic history and can be considered a moderate genetic isolate. We also report seven samples from the Bosnian population and one Herzegovinian sample designated as X2* individuals that could not be assigned to any of its sublineages (X2a'o) according to the existing X2 phylogeny. In an attempt to clarify the phylogeny of our X2 samples, their mitochondrial DNA has been completely sequenced. We suppose that these lineages are signs of local microdifferentiation processes that occurred in the recent demographic past in this area and could possibly be marked as SEE-specific X2 sublineages.

Aging is a complex process of accumulation of molecular, cellular, and organ damage, leading to loss of function and increased vulnerability to disease and finally to death (1). It is well known that lifestyle choices such as smoking and physical activity can hasten or delay the aging process (2). Such observations have led to the search for molecular markers of age that can be used to predict, monitor, and provide insight into age-associated physiological decline and disease. Protein structure is defined by the sequence of nucleotides in the corresponding genes, thus the polypeptide sequence of a protein cannot change with age. However, an important structural and functional element of the majority of proteins are the glycans that participate in virtually all physiological processes (3). Glycans are product of a complex pathway that involves hundreds of different proteins and are encoded in a complex dynamic network of hundreds of genes (4). Epigenetic regulation of gene expression is expected to affect protein glycosylation and several publications recently reported this effect (5–8). Changes in glycosylation with age have been shown over 20 years ago (9) and have also replicated in recent large population studies (10–13). Immunoglobulin G (IgG) is an excellent model glycoprotein because its glycosylation has been well defined (Figure 1), and many important functional effects of alternative IgG glycosylation have been described (14). For example, glycosylation acts as a switch between pro- and anti-inflammatory IgG functionality. Most of the IgG molecules are not sialylated and are proinflammatory. Terminal α2,6-sialylation of IgG glycans decreases the ability of IgG to bind to activating FcγRs and promotes recognition by DC-SIGN, which increases expression of inhibitory FcγRIIB and is anti-inflammatory (15). Another fascinating example is the role of core fucose in the modulation of antibody-dependent cellular cytotoxicity: IgG-containing glycans that lack core fucose have 100-fold increased affinity for FcγRIIIA and are therefore much more efficient in activating antibody-dependent cellular cytotoxicity than fucosylated glycoforms of the same molecule (16). On average, 95% of the IgG population is core fucosylated (12); thus, most of the immunoglobulins have a “safety switch,” which prevents them from activating antibody-dependent cellular cytotoxicity. Malfunction of this system appears to be associated with autoimmune diseases as indicated by both pleiotropic effects of genes that associate with IgG glycosylation on different inflammatory and autoimmune diseases, and the observed alterations in IgG glycosylation in systemic lupus erythematous (17) and many inflammatory diseases (18). Figure 1. UPLC analysis of immunoglobulin G (IgG) glycosylation. Each IgG contains one conserved N-glycosylation site on Asn197 of its heavy chain. Different glycans can be attached to this site and the process seems to be highly regulated. UPLC analysis can reveal ... Interindividual variability of IgG glycosylation in a population is large (12) and it appears to be affected by both variation in DNA sequence (19) and environmental factors (11). Most of the studies that investigated glycosylation changes with age were either of limited size or were performed on the total plasma glycome; thus, in addition to changes in glycosylation, the observed differences reflected changes in the concentration of individual plasma proteins. In this study, we focused on glycosylation of IgG and analyzed more than 5,000 individuals from four different European populations to provide definitive data about changes in IgG glycosylation through the lifetime.

Many Croatian islands are examples of genetic isolates, with low level of heterozygosity and high level of inbreeding, due to practice of endogamy.The aim was to study the genetic structure of two insular and one mainland population through high-resolution phylogenetic analysis of mitochondrial DNA (mtDNA).MtDNA polymorphisms were explored in 300 unrelated individuals from Mljet, Lastovo and the coastal city of Dubrovnik, based on SNP polymorphisms.All mtDNA haplogroups found in the sample were of typical European origin. However, the frequency distribution of their subclades differed significantly from other Croatian and European populations. MtDNA haplotype analysis revealed only two possible founder lineages on Mljet and six on Lastovo, accounting for almost half of the sample on both islands. The island of Mljet also has the lowest reported haplotype and nucleotide diversity among Croatian isolates and the island of Lastovo, a new sublineage of a usually quite rare U1b clade.The results can be explained by the effect evolutionary forces have on genetic structure, which is in line with the specific demographic histories of the islands. An additional research value of these two island isolates is the appearance of certain Mendelian disorders, highlighting their importance in epidemiological studies.