The role of longevity-related genetic variant interactions as predictors of survival after 85 years of age.

Genome-wide association studies and candidate gene studies have identified several genetic variants that might play a role in achieving longevity. This study investigates interactions between pairs of those single nucleotide polymorphisms (SNPs) and their effect on survival above the age of 85 in a sample of 327 Croatian individuals. Although none of the SNPs individually showed a significant effect on survival in this sample, 14 of the 359 interactions tested (between SNPs not in LD) reached the level of nominal significance (p<0.

Genes Involved in DNA Damage Cell Pathways and Health of the Oldest-Old (85+).

Some sources report a connection of cellular senescence with chronic pathological conditions; however, the association between particular cellular processes and general health is rarely examined. This study aims to test the relationship of general health with DNA damage pathways that play a crucial role in senescence. The association of ten selected SNPs with subjective and objective general health and functional ability indicators has been tested in 314 oldest-old people from Croatia.

Relevance of Gene Variants in Population Genetic Differentiation.

A significant portion of the variability in complex features, such as drug response, is likely caused by human genetic diversity. One of the highly polymorphic pharmacogenes is , encoding an enzyme involved in the metabolism of about 25% of commonly prescribed drugs. In a directed search of the 1000 Genomes Phase III variation data, 86 single nucleotide polymorphisms (SNPs) in the gene were extracted from the genotypes of 2504 individuals from 26 populations, and then used to reconstruct haplotypes.

From Croatian Roma to 1000 Genomes: The Story of the Gene Promoter and Enhancer SNPs.

The gene encodes an enzyme responsible for the metabolism of ~20% of clinically prescribed drugs. In this study, 18 SNPs from the enhancer and promoter regions of in 323 Roma from Croatia were genotyped, to find out whether the demographic history of Roma affected the distribution of the studied SNPs and their linkage disequilibrium (LD) values, with the major SNPs defining the star alleles. No differences were found between the three Roma groups in allele and genotype frequencies.

Pharmacogenetic distinction of the Croatian population from the European average.

Aim: To compare the Croatian and European population in terms of allele frequencies of clinically relevant polymorphisms in drug absorption, distribution, metabolism, and excretion (ADME) genes.

Methods: In 429 Croatian participants, we genotyped 27 loci in 20 ADME genes. The obtained frequencies were merged with the published frequencies for the Croatian population by sample size weighting.

Untangling SNP Variations within Gene in Croatian Roma.

CYP2D6 is a highly polymorphic gene whose variations affect its enzyme activity. To assess whether the specific population history of Roma, characterized by constant migrations and endogamy, influenced the distribution of alleles and thus phenotypes, the CYP2D6 gene was sequenced using NGS (Next Generation Sequencing) method-targeted sequencing in three groups of Croatian Roma (N = 323) and results were compared to European and Asian populations. Identified single nucleotide polymorphisms (SNPs) were used to reconstruct haplotypes, which were translated into the star-allele nomenclature and later into phenotypes.

Three Patterns of Inheritance of Quantitative Dermatoglyphic Traits: Kosovo Albanian Twin Study.

Dermatoglyphs are epidermal ridge configurations on the fingers, palms and soles that are formed during fetal development, and therefore only the intrauterine environment can have any influence on their formation. This study aims at investigating the genetic and environmental contribution in determining quantitative dermatoglyphic traits in 32 monozygotic (MZ) and 35 dizygotic (DZ) same-sex twins from the Albanian population of Kosovo. All genetic analyses were run in the statistical program Mx.

CVD Risk Factors in the Ukrainian Roma and Meta-Analysis of Their Prevalence in Roma Populations Worldwide.

The Roma population suffers from severe poverty, social exclusion, and some of the worst health conditions in the industrialized world. Herein, we report on cardiovascular disease (CVD) risk factors in the Ukrainian Roma and present a meta-analysis of the prevalence of CVD risk factors in 16 Roma populations worldwide. The meta-analyses of CVD risk factors in Roma ( = 16,552) vs.

Waist to height ratio is the anthropometric index that most appropriately mirrors the lifestyle and psychological risk factors of obesity.

Aim: To determine to what extent the lifestyle and psychological factors influenced the occurrence of obesity in the population of the Mediterranean island of Vis (Croatia); also to relate the examined risk factors to several obesity indicators in order to select the most sensitive one.

Methods: Cross-sectional population study included 960 participants of both sexes (18-93 years) in whom the obesity was estimated using anthropometric indicators. The factor analysis of 55-item Food Frequency Questionnaire (FFQ) was performed as well as the General Health Questionnaire (GHQ12) for the self-assessment of psychological health and wellbeing.

Characterization of ADME genes variation in Roma and 20 populations worldwide.

The products of the polymorphic ADME genes are involved in Absorption, Distribution, Metabolism, and Excretion of drugs. The pharmacogenetic data have been studied extensively due to their clinical importance in the appropriate drug prescription, but such data from the isolated populations are rather scarce. We analyzed the distribution of 95 polymorphisms in 31 core ADME genes in 20 populations worldwide and in newly genotyped samples from the Roma (Gypsy) population living in Croatia.

Distinctiveness of the Roma population within CYP2B6 worldwide variation.

Aim: To determine variation of CYP2B6 gene within the genetically specific Croatian Roma (Gypsy) population originating from India and to examine it in the worldwide perspective.

Materials & Methods: Seven SNP loci (rs12721655, rs2279343, rs28399499, rs34097093, rs3745274, rs7260329 and rs8192709) were genotyped in 439 subjects using Kompetitive Allele Specific PCR (KASP) method.

Results: The Croatian Roma took an outlying position in CYP2B6 variation from the worldwide perspective mainly due to their exceptionally high minor allele frequency (MAF) for rs8192709 (12.

Novel locus for fibrinogen in 3' region of LEPR gene in island population of Vis (Croatia).

Leptin, a possible mediator between energy homeostasis, inflammation and cardiovascular disease (CVD), acts via leptin receptors. We investigated association of single-nucleotide polymorphisms (SNPs) and haplotypes of the leptin receptor gene (LEPR) with several CVD risk factors: body mass index, waist circumference (WC), serum lipids, fibrinogen and C-reactive protein levels. Thirty-one SNPs in and near LEPR gene were analyzed in 986 inhabitants of the island of Vis, Croatia and 29 SNPs in the inland sample (N=499).

A six decades long follow-up on body size in adolescents from Zagreb, Croatia (1951-2010).

Most studies analysing the influence of socioeconomic deterioration on body size focus on the impact of food shortages and diseases on the growth in early childhood. To evaluate how socioeconomic conditions influence the growth during the adolescence, we tracked the body size of 15-19 year-olds over the last sixty years covering the socialist period (1951-1990), the war (1991-1995) and the transition to capitalistic economy. This study of Zagreb, Croatia, adolescent population provides information on the secular trend in height, weight and Body Mass Index (BMI) and examines their relation with Real Gross Domestic Product.

Are the physically active adolescents belonging to the "at risk of overweight" BMI category really fat?

The adolescence is recognized as one of the critical periods for the development of obesity. Children and adolescents who practice sports regularly have higher muscle mass and lower percentage of body fat than their peers who are physically less active. Since body mass index (BMI) is a widely used indicator of overweight/obesity in spite of the fact that it directly measures excess in weight but not in fat, it often misclassifies athletic populations, both children and adults.

A detection of microevolutionary changes by the analysis of qualitative dermatoglyphic traits: an example of Albanians from Kosovo.

In this study we analyzed the qualitative dermatoglyphic traits in the Albanians from three Kosovo distinct regions. We aimed to detect possible microevolutionary changes, which could have happened as a consequence of geographical and cultural isolation. The dermatoglyphic traits were analyzed for total 641 Albanians of both sexes.

Age trends in prevalence of cardiovascular risk factors in Roma minority population of Croatia.

The Roma (Gypsy) are the largest European minority population characterized by poverty, social exclusion as well as by numerous life-style and cultural specificities, which all could have an adverse impact on their cardiovascular health. This study assesses the prevalence of cardiovascular diseases (CVD) risk factors in community-based sample of 430 adult Roma, living in rural area of Croatia, by providing the actual and age-adjusted estimates using the European standard population. The most prominent classical CVD risk phenotypes (blood pressure, obesity, smoking, glucose and lipid profile) were selected, and the standard risk cut-offs were applied.

Comparative analysis of qualitative dermatoglyphic traits of Albanian and Turkish populations living in the area of Dukagjin Valley in Kosovo.

Dermatoglyphic prints were collected from 800 inhabitants of Dukagjin valley in Kosovo. The sample consisted of two ethnically different sub-populations who refer themselves as Albanians (N = 400) and Turks (N = 400). Qualitative analysis of prints concerned the frequency of the patterns on fingers (arch, ulnar and radial loop, whorl, accidental whorl) and on palms (Thenar and I, II, III, and IV interdigital area and the hypothenar, main line index, and the axial "t" triradius position).

Secular trend of menarche in Zagreb (Croatia) adolescents.

Objective: To study the secular trend of menarche in high-school urban adolescent girls (Zagreb, Croatia) over the last two decades, and to evaluate the possible impact of worsening of socio-economic conditions on age at menarche during the Croatian War of Independence (1991-1995).

Study Design: Three surveys of female adolescents aged 15-19 years: (a) 523 girls interviewed in 1990, (b) 888 girls interviewed in 1997, and (c) 399 girls interviewed in 2010. Self-reported age at menarche (in decimal years) was presented by age groups and year of interview.

Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile.

Genome-wide association studies have identified 32 loci influencing body mass index, but this measure does not distinguish lean from fat mass. To identify adiposity loci, we meta-analyzed associations between ∼2.5 million SNPs and body fat percentage from 36,626 individuals and followed up the 14 most significant (P < 10(-6)) independent loci in 39,576 individuals.

Angiotensin-converting enzyme deletion allele is beneficial for the longevity of Europeans.

The human angiotensin converting enzyme (ACE) gene is one of the most investigated candidate genes for cardiovascular diseases (CVD), but the understanding of its role among the elderly is vague. Therefore, this study focuses at: (a) testing the association of ACE polymorphism with CVD risk factors among the elderly, and (b) detecting the possible unequal distribution of ACE genotypes between senescent and younger segments of the European populations. The association of ACE I/D polymorphism with CVD health status [hypertension (HT), obesity, dislypidemia] in 301 very old subjects (88.

E2 allele of the apolipoprotein E gene polymorphism is predictive for obesity status in Roma minority population of Croatia.

Background And Aims: The Roma (Gypsies) are a transnational minority, founder population characterized by unique genetic background modeled by culturally determined endogamy. The present study explores whether the widely found cardiovascular diseases (CVD) risk effects of ACE I/D, APOE (ε2, ε3, ε4), eNOS-VNTR and LEP G2548A polymorphisms can be replicated in this specific population.

Methods And Results: The community-based study was carried on 208 adult Bayash Roma living in rural settlements of eastern and northern Croatia.

Comparative analysis of dermatoglyphic traits in Albanian and Turkish population living in Kosovo.

The aim of the study was to compare quantitative dermatoglyphic traits of two ethnic groups with different origin and customs, living on the same territory. The dermatoglyphic prints were collected from 800 inhabitants of the Dukagjin valley in southwest Kosovo, of Albanian (400) and Turkish (400) ethnic origin. The quantitative analysis comprised the number of ridges and triradii on the fingers, and the number of ridges in the interdigital areas on the palm (a-b, b-c, and c-d) as well as the size of the atd angle.

A quantitative trait locus for SBP maps near KCNB1 and PTGIS in a population isolate.

Background: Population isolates are characterized by simplified genetic background and as such present promising opportunities for studying complex diseases. We performed a genome-wide linkage analysis for systolic (SBP) and diastolic blood pressure (DBP) followed up by the association analysis in the Croatian isolated island of Vis, where a very high prevalence of hypertension was reported (75%).

Methods: Variance-components linkage analysis was used to map quantitative trait loci (QTL) for SBP and DBP in 125 families with 1,389 members.