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1.
Genes (Basel) ; 14(8)2023 08 12.
Article in English | MEDLINE | ID: mdl-37628665

ABSTRACT

Mitochondrial DNA (mtDNA) has been used for decades as a predominant tool in population genetics and as a valuable addition to forensic genetic research, owing to its unique maternal inheritance pattern that enables the tracing of individuals along the maternal lineage across numerous generations. The dynamic interplay between evolutionary forces, primarily genetic drift, bottlenecks, and the founder effect, can exert significant influence on genetic profiles. Consequently, the Adriatic islands have accumulated a subset of lineages that exhibits remarkable absence or rarity within other European populations. This distinctive genetic composition underscores the islands' potential as a significant resource in phylogenetic research, with implications reaching beyond regional boundaries to contribute to a global understanding. In the initial attempt to expand the mitochondrial forensic database of the Croatian population with haplotypes from small isolated communities, we sequenced mitogenomes of rare haplogroups from different Croatian island and mainland populations using next-generation sequencing (NGS). In the next step and based on the obtained results, we refined the global phylogeny of haplogroup N1a, HV2, and X by analyzing rare haplotypes, which are absent from the current phylogenetic tree. The trees were based on 16 novel and 52 previously published samples, revealing completely novel branches in the X and HV2 haplogroups and a new European cluster in the ancestral N1a variant, previously believed to be an exclusively African-Asian haplogroup. The research emphasizes the importance of investigating geographically isolated populations and their unique characteristics within a global context.


Subject(s)
Genome, Mitochondrial , Humans , Phylogeny , Croatia , Genome, Mitochondrial/genetics , Mitochondria/genetics , DNA, Mitochondrial/genetics
2.
Ann Hum Biol ; 50(1): 332-340, 2023 Feb.
Article in English | MEDLINE | ID: mdl-37439599

ABSTRACT

BACKGROUND: Every third child in Croatia is classed as overweight or obese. Infant growth can represent early warning signs for obesity. AIM: To detect early risk factors for obesity by investigating infant size and early growth trajectories and their association with maternal lifestyle and breastfeeding. SUBJECTS AND METHODS: Ninety-eight mother-child pairs from the Croatian Islands' Birth Cohort Study (CRIBS) cohort were included in the study. Data were collected from questionnaires and medical records. Growth data were converted to Z-scores using World Health Organisation (WHO) standards and used as the primary outcome. RESULTS: Z-score trajectories in the first year of life were in line with WHO standards. A direct link between infant size and maternal socioeconomic status (SES) or breastfeeding was not detected. However, child weight gain in the first 6 months was associated with maternal body mass index (BMI) before pregnancy (p < 0.01). A positive association was also established between breastfeeding and maternal SES and mothers that report an unhealthy diet have heavier children (p < 0.05, respectively). CONCLUSION: Infant size and early growth in Croatia is in line with WHO standards and risk factors for obesity development were detectable in the first year of life, but not highly pronounced. However, more effective BMI monitoring and promotion of a healthy diet and lifestyle of women before and during pregnancy is needed.


Subject(s)
Breast Feeding , Obesity , Pregnancy , Infant , Humans , Female , Cohort Studies , Obesity/etiology , Overweight/complications , Body Mass Index , Life Style
3.
Epigenomics ; 14(21): 1343-1354, 2022 11.
Article in English | MEDLINE | ID: mdl-36453021

ABSTRACT

Background: The objective was to identify stable and dynamic DNA methylation loci associated with cardiometabolic traits among an adult population from the Croatian island of Hvar. Materials & methods: An epigenome-wide association study was conducted using peripheral blood longitudinally collected at two time points 10 years apart via Infinium MethylationEPIC beadarray (n = 112). Stable and dynamic loci were identified using linear mixed models. Associations between cardiometabolic traits and loci were assessed using linear models. Results: 22 CpG loci were significantly associated with systolic blood pressure. Twenty were stable and two were dynamic. Conclusion: Multiple genes may be involved in the determination of systolic blood pressure level via stable epigenetic programming, potentially established earlier in life.


Cardiovascular disease is the leading cause of death worldwide. Previous studies have found that genetics incompletely explain susceptibility to cardiovascular disease. To find new potential risk factors, the authors investigated the possible contribution of DNA methylation (modifications to DNA that can affect gene expression but do not alter the underlying genetic code) in an adult population on the Croatian island of Hvar, which has a high number of people with cardiovascular and metabolic disease. By examining DNA methylation in blood collected at two time points, 10 years apart, the authors were able to identify DNA methylation that either stayed the same over time (stable) or changed the most over time (dynamic). These were then compared with clinical test results related to cardiovascular or metabolic diseases to determine if they are associated. Twenty-two methylation sites were found to be associated with systolic blood pressure. Of those, 20 were considered stable and two were dynamic. Additionally, there was one stable methylation site associated with serum calcium and one with C-reactive protein. These findings suggest that systolic blood pressure may be regulated through stable DNA methylation that is potentially established earlier in life.


Subject(s)
Cardiovascular Diseases , Epigenesis, Genetic , Adult , Humans , Blood Pressure/genetics , Croatia , Genome-Wide Association Study , DNA Methylation , CpG Islands , Cardiovascular Diseases/genetics
4.
Croat Med J ; 63(3): 231-243, 2022 Jun 22.
Article in English | MEDLINE | ID: mdl-35722692

ABSTRACT

AIM: To use the method of meta-analysis to assess the influence of island population isolation on the sub-structuring of the Croatian population, as well as the influence of regional population groups on the sub-structuring of the Southeastern European population with regard to basic population genetic statistical parameters calculated by using STR locus analysis. METHODS: Bio-statistical analyses were performed for 2877 unrelated participants of both sexes from Southeastern Europe. Nine autosomal STR loci (D3S1358, vWA, FGA, TH01, TPOX, CSF1PO, D5S818, D13S317, and D7S82) were analyzed by using standard F-statistics and population structure analysis (Structure software). RESULTS: Genetic differentiation of Croatian subpopulations assessed with the FST method was higher at the level of the Croatian population (0.005) than at the level of Southeastern Europe (0.002). The island of Vis showed the most pronounced separation in the Croatian population, and Albanians from Kosovo in the population of Southeast Europe, followed by Croatia, Bosnia and Herzegovina, and Hungary. CONCLUSION: The higher structure of Croatian subpopulations in relation to Southeastern Europe suggest a certain degree of genetic isolation, most likely due to the influence of endogamy within rural island populations.


Subject(s)
DNA Fingerprinting , Genetics, Population , Bosnia and Herzegovina , Croatia , Europe , Gene Frequency , Humans , Microsatellite Repeats
5.
Croat Med J ; 63(3): 244-256, 2022 Jun 22.
Article in English | MEDLINE | ID: mdl-35722693

ABSTRACT

AIM: To investigate the influence of specific intrapopulation genetic structures on interpopulation relationships. Special focus was the influence of island population isolation on the substructuring of the Croatian population, and the influence of regional population groups on the substructuring of Southeast European populations. METHODS: Autosomal short tandem repeat (STR) loci were analyzed by using four forensic parameters: matching probability (PM), power of discrimination (PD), power of exclusion (PE), and polymorphic information content (PIC) on a sample of 2877 unrelated participants of both sexes. A sample set comprising 590 participants was analyzed for the first time, and 2287 participants were included from previous studies. The analysis was performed with PowerStats v. 1.2. RESULTS: The analysis of forensic parameters for all nine loci in the Croatian subpopulations showed the largest deviations in the populations of the islands of Korcula and Hvar. The smallest deviations were found in the mainland population. As for Southeast European populations, the largest deviations were found in the population of North Macedonia, followed by Romania, Albanians from Kosovo, and Montenegro, while the smallest deviations were found in the population of Hungary. CONCLUSION: The comparison of forensic parameters between different subpopulations of Croatia and Southeast Europe indicates that the isolation of individual Croatian subpopulations and rare alleles in their gene pool affect the values of forensic parameters. Specific features of (sub)populations should be taken into account for appropriate sampling of the total population when creating a DNA database of STR markers.


Subject(s)
Genetics, Population , Polymorphism, Genetic , Europe , Female , Gene Frequency , Humans , Male , Microsatellite Repeats/genetics
6.
Croat Med J ; 63(3): 273-286, 2022 Jun 22.
Article in English | MEDLINE | ID: mdl-35722696

ABSTRACT

AIM: To analyze an additional set of ˝Y-chromosome genetic markers to acquire a more detailed insight into the diversity of the Croatian population. METHODS: A total of 518 Yfiler Plus profiles were genotyped. Allele frequencies, haplotype frequencies, and haplotype diversity were calculated by using the STRAF software v. 2.0.4. Genetic distances were quantified by Rst with AMOVA online tool from the YHRD. The evolutionary history was inferred with the neighbor-joining method of phylogenetic tree construction in the MEGAX software. Whit Athey's Haplogroup Predictor v. 5 was used for additional comparison with regional and other European populations. RESULTS: A total of 507 haplotypes were used for genetic STR analysis. An interpopulation study on 17 Y-STR markers showed the lowest genetic diversity between the Croatian and Bosnian-Herzegovinian populations and the highest between the Croatian and Irish populations. Additional interpopulation comparison with the original 27 Y-STR markers (for the population with available data) was also performed. A total of 518 haplotypes were used in the determination of haplogroup diversity. Haplogroup I with its sublineage I2a expressed the highest prevalence. The second most prevalent haplogroup was R, with its major sublineage R1a, except for the subpopulation of Hvar, where E1b1b was the second most prevalent haplogroup. Rare haplogroups also confirmed in this study were L, T, and Q. G1 was detected for the first time in the Croatian population. CONCLUSION: We obtained a new insight into the differences between examined subpopulations of Croatia and their possible (dis)similarities with neighboring and distant populations.


Subject(s)
Chromosomes, Human, Y , Genetics, Population , Chromosomes, Human, Y/genetics , Croatia , Genetic Variation/genetics , Haplotypes/genetics , Humans , Microsatellite Repeats/genetics , Phylogeny
7.
Anthropol Anz ; 79(4): 361-397, 2022 Aug 25.
Article in English | MEDLINE | ID: mdl-35607797

ABSTRACT

The paper presents an overview of the 50-year long bioanthropological research of the Hvar islanders and depicts the maternal and paternal genetic landscape of the Hvar population (mtDNA and NRY lineages) in more detail. MtDNA haplogroups were determined in 169 and NRY haplogroups in 407 autochthonous individuals from the Hvar Island. The relatively high level of diversity of mtDNA and NRY lineages has been observed, however with interesting deviations from both the maternal (F1b1 lineage) and paternal (Q2a1a lineage) perspective. Additionally, population substructuring revealed differences between Hvar communities (east-west substructuring), in line with the ethnohistoric background and observed migration patterns on the island. Genetic analysis of the Hvar islanders presents a highlight of the 50-year long anthropological research on this island and offers insight into the current genetic structure of Dalmatia, Croatia, shaped by dynamic and diverse population movements throughout history.


Subject(s)
Anthropology , DNA, Mitochondrial , Croatia , DNA, Mitochondrial/genetics , Genetic Variation/genetics , Genetics, Population , Haplotypes/genetics , Humans
8.
Ann Hum Biol ; 49(2): 91-99, 2022 Mar.
Article in English | MEDLINE | ID: mdl-35604837

ABSTRACT

BACKGROUND: High pre-pregnancy body mass index (BMI) and excessive gestational weight gain (GWG) are significant risk factors for maternal and neonatal health. AIM: To assess pre-pregnancy BMI and GWG during pregnancy and their association with different maternal and neonatal characteristics in the transitional Mediterranean population from the Eastern Adriatic islands. SUBJECTS AND METHODS: Two hundred and sixty-two mother-child dyads from the CRoatian Islands' Birth Cohort Study (CRIBS) were included in the study. Chi-square test, ANOVA, and regression analysis were used to test the association between selected characteristics. RESULTS: In total, 22% of women entered pregnancy as overweight/obese and 46.6% had excessive GWG. Pre-pregnancy overweight and obesity were significantly associated with elevated triglycerides uric acid levels, and decreased HDL cholesterol in pregnancy. Excessive GWG was associated with elevated fibrinogen and lipoprotein A levels. Women with high pre-pregnancy BMI and GWG values were more likely to give birth to babies that were large for gestational age (LGA), additionally confirmed in the multiple logistic regression model. CONCLUSION: High maternal pre-pregnancy BMI and excessive GWG were both significantly associated with deviated biochemical parameters and neonatal size. More careful monitoring of maternal nutritional status can lead to better pre- and perinatal maternal healthcare.


Subject(s)
Overweight , Reproductive Health , Body Mass Index , Cohort Studies , Female , Humans , Infant, Newborn , National Academies of Science, Engineering, and Medicine, U.S., Health and Medicine Division , Obesity/epidemiology , Obesity/etiology , Overweight/epidemiology , Pregnancy , Pregnancy Outcome/epidemiology , United States , Weight Gain
9.
Nutrients ; 13(12)2021 Dec 20.
Article in English | MEDLINE | ID: mdl-34960116

ABSTRACT

Previous studies have confirmed the beneficial effect of a Mediterranean diet in mitigating health issues related to cardiovascular disease, diabetes and obesity. However, rapid changes in the traditional way of life and the "westernization" of the diet in Mediterranean populations, especially in younger generations, has led to progressive abandonment of healthy dietary patterns. In order to investigate the generation shift in dietary patterns and lifestyle habits in the Mediterranean part of Croatia, we compared two cohorts of 610 women (266 pregnant and 344 non-pregnant) from the same region, but from different age groups. The MDSS score was derived from food frequency questionnaires. The results showed that the young, reproductively active generation (pregnant women) in Dalmatia, Croatia, although having a higher education and socioeconomic status, exhibits a more adverse eating behaviour (lower adherence to the Mediterranean diet) and lifestyle (excessive smoking in pregnancy) than the older population from the same region. Lower MDSS scores across aggregated age groups in both cohorts showed significant association with higher blood lipid levels and higher smoking frequency. In conclusion, Mediterranean diet adherence is associated with biological markers (age, lipid profile) and lifestyle (smoking) in our study, with a more adverse trend observed in the younger generation.


Subject(s)
Diet, Mediterranean/statistics & numerical data , Health Status , Life Style , Adult , Age Factors , Aged , Aged, 80 and over , Biomarkers/blood , Body Mass Index , Cardiovascular Diseases/epidemiology , Cohort Studies , Croatia/epidemiology , Exercise , Feeding Behavior , Female , Humans , Lipids/blood , Middle Aged , Pregnancy , Smoking/epidemiology , Social Class , Surveys and Questionnaires , Young Adult
10.
Scand J Work Environ Health ; 47(7): 550-560, 2021 10 01.
Article in English | MEDLINE | ID: mdl-34432068

ABSTRACT

OBJECTIVE: Birth cohorts collect valuable and under-utilized information on employment and health of parents before and during pregnancy, at birth, and sometimes after birth. In this discussion paper, we examine how these data could be exploited to study the complex relationships and interactions between parenthood, work, and health among parents themselves. METHODS: Using a web-based database of birth cohorts, we summarize information on maternal employment and health conditions and other potentially related variables in cohorts spread throughout Europe. This provided information on what data are available and could be used in future studies, and what was missing if specific questions are to be addressed, exploiting the opportunity to explore work-health associations across heterogenous geographical and social contexts. RESULTS: We highlight the many potentialities provided by birth cohorts and identify gaps that need to be addressed to adopt a life-course approach and investigate topics specific to the peri-pregnancy period, such as psychosocial aspects. We address the technical difficulties implied by data harmonization and the ethical challenges related to the repurposing of data, and provide scientific, ecological and economic arguments in favor of improving the value of data already available as a result of a serious investment in human and material resources. CONCLUSIONS: There is a hidden treasure in birth cohorts that deserves to be brought out to study the relationships between employment and health among working parents in a time when the boundaries between work and life are being stretched more than ever before.


Subject(s)
Birth Cohort , Employment , Databases, Factual , Europe , Female , Humans , Infant, Newborn , Pregnancy
11.
Article in English | MEDLINE | ID: mdl-33126737

ABSTRACT

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-at the same time-minimize the amount of unnecessary examinations.


Subject(s)
Athletes , Cardiovascular Diseases , Heart Disease Risk Factors , Cardiovascular Diseases/diagnosis , Cardiovascular Diseases/epidemiology , Female , Humans , Male , ROC Curve
12.
Nutrients ; 12(8)2020 Jul 22.
Article in English | MEDLINE | ID: mdl-32708050

ABSTRACT

Maternal nutrition and lifestyle in pregnancy are important modifiable factors for both maternal and offspring'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-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-island differences. The highest adherence was observed among wealthier women with generally healthier lifestyle choices. The most significant mainland-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.


Subject(s)
Diet, Mediterranean , Life Style , Maternal Nutritional Physiological Phenomena , Adult , Body Mass Index , Cohort Studies , Croatia , Diet, Healthy , Exercise , Female , Follow-Up Studies , Health Behavior , Humans , Nutrition Assessment , Patient Compliance , Pregnancy , Pregnant Women , Socioeconomic Factors , Surveys and Questionnaires
13.
Sci Total Environ ; 683: 29-36, 2019 Sep 15.
Article in English | MEDLINE | ID: mdl-31129329

ABSTRACT

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.


Subject(s)
Blood Glucose/analysis , Blood Pressure , Cholesterol/blood , Environmental Pollutants/blood , Fluorocarbons/blood , Waist Circumference , Adult , Croatia , Cross-Sectional Studies , Female , Humans , Male , Metabolic Syndrome/physiopathology , Middle Aged , Pilot Projects
14.
Biol Sport ; 36(1): 17-23, 2019 Mar.
Article in English | MEDLINE | ID: mdl-30899135

ABSTRACT

Elite athletes differ from each other in their characteristics according to their discipline. This study aimed to identify performance predictors in elite Croatian sprinters taking into consideration their anthropometric, psychological and genetic characteristics. One hundred and four elite Croatian sprinters (68 males and 36 females) participated in this study. Of them, 38 are currently competing in the 100-metre dash. The others are former sprinters. The participants underwent direct anthropometric assessment. Participants were also tested by means of the Competitive State Anxiety Inventory-2 and for ACE and ACTN3 polymorphisms. Multiple linear regression analysis was applied to identify the best model for performance prediction. Different models were developed for males and females. Anthropometric traits accounted for 44% of the variance in performance for males, 62% for females. Once other traits (psychological for females) were entered into the model, no additional contribution to the variance was observed. The most significant predictors of higher running velocity were bicristal diameter and foot dimensions in males, and leg length and clean one-repetition maximum in females. The findings suggest that performance in sprinters is associated with anthropometric characteristics, with biomechanical implications that may be used to provide a more complete evaluation of sprinters' performance.

15.
Nutrients ; 10(10)2018 Oct 01.
Article in English | MEDLINE | ID: mdl-30275383

ABSTRACT

Branched-chained amino acids (BCAA) are essential dietary components for humans and can act as potential biomarkers for diabetes development. To efficiently estimate dietary intake, we developed a BCAA database for 1331 food items found in the French Centre d'Information sur la Qualité des Aliments (CIQUAL) food table by compiling BCAA content from international tables, published measurements, or by food similarity as well as by calculating 267 items from Greek, Turkish, Romanian, and Moroccan mixed dishes. The database embedded in MEDIPAD software capable of registering 24 h of dietary recalls (24HDR) with clinical and genetic data was evaluated based on archived 24HDR of the Saint Pierre Institute (France) from 2957 subjects, which indicated a BCAA content up to 4.2 g/100 g of food and differences among normal weight and obese subjects across BCAA quartiles. We also evaluated the database of 119 interviews of Romanians, Turkish and Albanians in Greece (27⁻65 years) during the MEDIGENE program, which indicated mean BCAA intake of 13.84 and 12.91 g/day in males and females, respectively, comparable to other studies. The MEDIPAD is user-friendly, multilingual, and secure software and with the BCAA database is suitable for conducting nutritional assessment in the Mediterranean area with particular facilities for food administration.


Subject(s)
Amino Acids, Branched-Chain/analysis , Databases, Factual/statistics & numerical data , Food Analysis/methods , Nutrition Assessment , Software , Adult , Aged , Female , France , Greece , Humans , Male , Mediterranean Region , Middle Aged , Nutrition Surveys
16.
Coll Antropol ; 41(1): 11-8, 2017 Mar.
Article in English | MEDLINE | ID: mdl-29139643

ABSTRACT

This paper presents a review of the 50-year long anthropological and epidemiological research of the Susak population. Island of Susak is an example of extreme genetic isolate, with a very low level of heterozygosity and a significantly high level of inbreeding, due to the practice of endogamy. Its specific features have put the island in the focus of diverse research during the last five decades and in this study we additionally present new insights into the island's maternal genetic heritage. For this purpose, mitochondrial DNA (mtDNA) haplogroup diversity was defined based on SNPs of the control and coding region on the sample of 64 autochthonous individuals from the island. Only three main haplogroups were detected ­ H, T and one W sample, with a limited number of haplotypes, and certain typical European haplogroups (U, K, J, V, X,) were completely absent. Haplotype analysis revealed five possible founder lineages of altogether 16 different haplotypes. Island of Susak also has the second lowest reported GDV (gene diversity index) among Croatian isolates, which is in line with its reduced mtDNA diversity. Since such island communities are most likely to disappear in the near future, we see these results as a valuable contribution for further population genetics and epidemiological studies.


Subject(s)
Ethnicity/genetics , Genetic Variation/genetics , Croatia/epidemiology , DNA, Mitochondrial/genetics , Haplotypes , Humans , Islands , Phylogeny , Polymorphism, Single Nucleotide/genetics
17.
Sci Rep ; 7: 46044, 2017 04 07.
Article in English | MEDLINE | ID: mdl-28387361

ABSTRACT

Human mitochondrial DNA haplogroup U is among the initial maternal founders in Southwest Asia and Europe and one that best indicates matrilineal genetic continuity between late Pleistocene hunter-gatherer groups and present-day populations of Europe. While most haplogroup U subclades are older than 30 thousand years, the comparatively recent coalescence time of the extant variation of haplogroup U7 (~16-19 thousand years ago) suggests that its current distribution is the consequence of more recent dispersal events, despite its wide geographical range across Europe, the Near East and South Asia. Here we report 267 new U7 mitogenomes that - analysed alongside 100 published ones - enable us to discern at least two distinct temporal phases of dispersal, both of which most likely emanated from the Near East. The earlier one began prior to the Holocene (~11.5 thousand years ago) towards South Asia, while the later dispersal took place more recently towards Mediterranean Europe during the Neolithic (~8 thousand years ago). These findings imply that the carriers of haplogroup U7 spread to South Asia and Europe before the suggested Bronze Age expansion of Indo-European languages from the Pontic-Caspian Steppe region.


Subject(s)
DNA, Mitochondrial/genetics , Evolution, Molecular , Haplotypes/genetics , Bayes Theorem , Geography , Humans , Mutation/genetics , Phylogeny
18.
Am J Hum Biol ; 28(6): 837-845, 2016 11.
Article in English | MEDLINE | ID: mdl-27279290

ABSTRACT

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.


Subject(s)
Chromosomes, Human, Y/genetics , Gene Pool , Genetic Variation , Phylogeny , Croatia , Humans , Islands , Male
19.
J Matern Fetal Neonatal Med ; 29(13): 2131-7, 2016.
Article in English | MEDLINE | ID: mdl-26365566

ABSTRACT

OBJECTIVES: To investigate changes in adipose tissue distribution using ultrasonography of the subcutaneous and preperitoneal adipose tissue during pregnancy. METHODS: The sample included 400 pregnant women. The research was prospective and statistically designed as a controlled observation using a random sampling method. The adipose tissue was estimated by ultrasonography, five times during the pregnancy. The minimal thickness of the subcutaneous (Smin) and maximal thickness of the preperitoneal (Pmax) was obtained using the Suzuki method. Analysis of variance and the Bonferroni post hoc test for multiple comparisons were calculated. RESULTS: Smin values have a decreasing trend, while Pmax values have an increasing trend, independent of the body mass index. No statistically significant differences in Smin and Pmax have been noted for the observed week intervals until the 20th pregnanacy week. Smin values for the week intervals 12 and 16, as well as for the Pmax week intervals 12, 16, and 20, were statistically significantly different when compared with the values obtained for the week intervals 32 and 37 (p < 0.05). No difference has been observed between nulliparous and multiparous pregnancies. CONCLUSION: The adipose tissue distribution during pregnancy shows a tendency towards a decreased accumulation of subcutaneous and increased accumulation of preperitoneal adipose tissue.


Subject(s)
Adipose Tissue/diagnostic imaging , Body Fat Distribution , Pregnancy/metabolism , Ultrasonography, Prenatal , Adipose Tissue/metabolism , Adult , Body Mass Index , Female , Gestational Age , Humans , Intra-Abdominal Fat/diagnostic imaging , Intra-Abdominal Fat/metabolism , Peritoneal Cavity/diagnostic imaging , Subcutaneous Fat/diagnostic imaging , Subcutaneous Fat/metabolism
20.
Coll Antropol ; 40(3): 195-8, 2016 09.
Article in English | MEDLINE | ID: mdl-29139639

ABSTRACT

The aim of this preliminary study is to analyze genetic specificity of Kosovo Albanians comparing with neighboring populations using new genetic tool - MEDISCOPE gene chip, to investigate the feasibility of this approach. We collected 37 DNA samples (9 Croats, 17 Albanians from Croatia and 11 Albanians from Kosovo) from unrelated males born in Croatia and Kosovo. Additionally, samples were expanded with female individuals and mtDNA analysis included a total of 61 samples (15 Croats, 23 Albanians from Croatia and 23 Albanians from Kosovo). This pilot study suggests that the usage of the MEDISCOPE chip could be recognized as an efficient tool within recognition of the population genetic specificity even within extremely small sample size.


Subject(s)
Genetic Variation/genetics , Genetics, Population/methods , Oligonucleotide Array Sequence Analysis/methods , Chromosomes, Human, Y/genetics , Croatia , DNA, Mitochondrial/genetics , Female , Genetic Markers/genetics , Humans , Kosovo , Male , Pilot Projects , White People/genetics
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