Biomedical subjects

Pavao Rudan

Publications and source records attributed to Pavao Rudan.

30 records · Page 2Linked to original sources

PubMed2004

Holistic anthropological research of Hvar Islanders, Croatia--from parish registries to DNA studies in 33 years.

The complexity of interactions between hereditary, environmental and cultural factors in determining human phenotypes is often underestimated in biomedical research. In this paper, we present 33 years of holistic anthropological research that was being conducted since 1971 in the island of Hvar, Croatia. During this period, detailed characterization of migrations, demography, isonymy, linguistic differences, anthropometric traits (head and body dimensions), physiological (cardio-respiratory) properties, quantitative and qualitative dermatoglyphic traits, radiogrammetric metacarpal bone dimensions and genetic traits (classical antigens, HLA diversity, DNA short tandem repeat -STR, mitochondrial DNA and Y-chromosome polymorphisms) was performed. The analysis of this large collection of data using both model-bound and model-free approaches showed that the complexity underlying human biological traits may be considerably greater than generally assumed, which has important implications for design of future studies into genetic determinants of complex traits.

Anthropology↗

PubMed2004

Frequencies of mtDNA haplogroups in southeastern Europe--Croatians, Bosnians and Herzegovinians, Serbians, Macedonians and Macedonian Romani.

Mitochondrial DNA polymorphisms were analyzed in of 1,610 randomly chosen adult men from 11 different regions from southeastern Europe (Croatians, Bosnians and Herzegovinians, Serbians, Macedonians and Macedonian Romani). MtDNA HVS-I region together with RFLP sites diagnostic for main Euroasian and African mtDNA haplogroups were typed to determine haplogroup frequency distribution. The most frequent haplogroup in studied populations was H with the exception of Macedonian Romani among whom the most frequent were South Asian (Indian) specific variants of haplogroup M. The multidimensional scaling plot showed two clusters of populations and two outliers (Macedonian Romani and the most distant from mainland Croatian island of Korcula). The first cluster was formed by populations from three Croatian islands (Hvar, Krk and Brac) and the second cluster was formed by Macedonians, Serbians, Croatians from mainland and coast, Herzegovinians, Bosnians, Slovenians, Poles and Russians. The present analysis does not address a precise evaluation of phylogenetic relations of studied populations although some conclusions about historical migrations could be noticed. More extended conclusions will be possible after deeper phylogenetic and statistical analyses.

Adult↗

PubMed2004

From genomic advances to public health benefits: the unbearable lightness of being stuck.

Genetic determinants of common human diseases are still poorly understood. Due to large investments, many small successes have been made and the research field is rapidly expanding. However, genetic susceptibility variants showing repeatable associations with common diseases are usually of small effect. They are therefore unlikely to individually explain substantial share of disease burden in any community or provide new insights into disease pathogenesis that could lead to development of new drugs effective in considerable portion of the disease cases in a population. Genetic architecture of common diseases is beginning to reveal an incredible diversity of potential genetic causes that act through somewhat limited number of mechanisms with important contribution of environmental interactions. In light of these findings, we present current understanding of genetic architecture of a spectrum of human diseases. We address the encountered problems in susceptibility gene identification, review the success of leading gene identification strategies and discuss current prospects for translating genomic advances into measurable public health benefits.

Genetic Predisposition to Disease↗

PubMed2004

Inbreeding and susceptibility to osteoporosis in Croatian island isolates.

The aim of this study was to investigate a recessive genetic component in susceptibility to osteoporosis (OP) by comparing its prevalence in isolated villages of three Croatian islands: Brac, Hvar and Korcula with different levels of inbreeding. A random sample of 20-30% adults from 14 villages was obtained, including a total of 1,389 examinees. The average inbreeding coefficient (F) of examinees from each village population was estimated using Wright's path method (based on genealogical information). The morphometry of the metacarpal bones was performed on hand-wrist radiographs of both hands in all examinees. OP was defined as values of cortical index smaller than 2 standard deviations based on distribution of values in examinees of the same sex under 45 years of age. Mean values of cortical index (CI) and prevalence of OP (both standardized by age and weighted for the sample size) in each village were correlated to the mean inbreeding coefficient (F). The coefficient of correlation (r) between F values and CI was -0.28 in males (p = 0.08) and -0.42 in females (p = 0.005), and between F and OP prevalence 0.32 in males (p < 0.001) and 0.43 in females (p < 0.001). These results indicate a trend of increased susceptibility to osteoporosis with increasing level of inbreeding in isolated communities of Croatian islands.

Adult↗

PubMed2003

Y chromosome STRs in Croatians.

Eight Y chromosome short tandem repeat (STR) polymorphisms (DYS19, DYS388, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393) were analyzed in the sample of 457 unrelated Croatian men. A general STR allelic frequency pattern in Croatians corresponds to other European populations with the exception of the loci DYS19 and DYS389II. The most frequent DYS19 allele was 16, while at the DYS389II the most frequent were alleles 30 and 31. The most frequent Y chromosome haplotype (16-13-13-31-24-11-11-13) was found in 33 individuals (7.22%). One hundred and seventy-four haplotypes (38.07%) were observed in single copies.

Chromosomes, Human, Y↗

PubMed2003

Origin and diffusion of mtDNA haplogroup X.

A maximum parsimony tree of 21 complete mitochondrial DNA (mtDNA) sequences belonging to haplogroup X and the survey of the haplogroup-associated polymorphisms in 13,589 mtDNAs from Eurasia and Africa revealed that haplogroup X is subdivided into two major branches, here defined as "X1" and "X2." The first is restricted to the populations of North and East Africa and the Near East, whereas X2 encompasses all X mtDNAs from Europe, western and Central Asia, Siberia, and the great majority of the Near East, as well as some North African samples. Subhaplogroup X1 diversity indicates an early coalescence time, whereas X2 has apparently undergone a more recent population expansion in Eurasia, most likely around or after the last glacial maximum. It is notable that X2 includes the two complete Native American X sequences that constitute the distinctive X2a clade, a clade that lacks close relatives in the entire Old World, including Siberia. The position of X2a in the phylogenetic tree suggests an early split from the other X2 clades, likely at the very beginning of their expansion and spread from the Near East.

Africa↗

PubMed2003

Y chromosomal heritage of Croatian population and its island isolates.

Y chromosome variation in 457 Croatian samples was studied using 16 SNPs/indel and eight STR loci. High frequency of haplogroup I in Croatian populations and the phylogeographic pattern in its background STR diversity over Europe make Adriatic coast one likely source of the recolonization of Europe following the Last Glacial Maximum. The higher frequency of I in the southern island populations is contrasted with higher frequency of group R1a chromosomes in the northern island of Krk and in the mainland. R1a frequency, while low in Greeks and Albanians, is highest in Polish, Ukrainian and Russian populations and could be a sign of the Slavic impact in the Balkan region. Haplogroups J, G and E that can be related to the spread of farming characterize the minor part (12.5%) of the Croatian paternal lineages. In one of the southern island (Hvar) populations, we found a relatively high frequency (14%) of lineages belonging to P*(xM173) cluster, which is unusual for European populations. Interestingly, the same population also harbored mitochondrial haplogroup F that is virtually absent in European populations--indicating a connection with Central Asian populations, possibly the Avars.

Chromosomes, Human, Y↗

PubMed2003

Inbreeding and the genetic complexity of human hypertension.

Considerable uncertainty exists regarding the genetic architecture underlying common late-onset human diseases. In particular, the contribution of deleterious recessive alleles has been predicted to be greater for late-onset than for early-onset traits. We have investigated the contribution of recessive alleles to human hypertension by examining the effects of inbreeding on blood pressure (BP) as a quantitative trait in 2760 adult individuals from 25 villages within Croatian island isolates. We found a strong linear relationship between the inbreeding coefficient (F) and both systolic and diastolic BP, indicating that recessive or partially recessive quantitative trait locus (QTL) alleles account for 10-15% of the total variation in BP in this population. An increase in F of 0.01 corresponded to an increase of approximately 3 mm Hg in systolic and 2 mm Hg in diastolic BP. Regression of F on BP indicated that at least several hundred (300-600) recessive QTL contribute to BP variability. A model of the distribution of locus effects suggests that the 8-16 QTL of largest effect together account for a maximum of 25% of the dominance variation, while the remaining 75% of the variation is mediated by QTL of very small effect, unlikely to be detectable using current technologies and sample sizes. We infer that recent inbreeding accounts for 36% of all hypertension in this population. The global impact of inbreeding on hypertension may be substantial since, although inbreeding is declining in Western societies, an estimated 1 billion people globally show rates of consanguineous marriages >20%.

Adult↗

PubMed2003

Our "Collegium Antropologicum" officially the most improved social science journal in the world for mid-2002.

Thomson ISI's bimonthly web-product ISI Essential Science Indicators (ESI) is an in-depth analytical tool that regularly reports quantitative analyses of research performance and science trends, covering about 8,500 scientific journals from the entire world. In each issue ESI lists the scientists, institutions, countries and journals that are most improved from one update to the next, i.e. that show the largest percentage increase in total citations. In its edition of January 2003, it reported that our "Collegium Antropologicum" was the most improved journal in the field of Social Sciences during the period from July 2002 to September 2002. The field of Social Sciences is one of 22 categories of science regularly analyzed by ESI. It includes anthropology, public health, sociology, social work and policy, political science, law, education, communication, library and information sciences, environmental studies and rehabilitation. Due to journal's success, which is based on publications of predominantly Croatian scientists within the past seven post-war years, Croatia was also officially the most improved among more than 200 countries, and University of Zagreb was the most improved in the field of Social Science among thousands of other institutions. We hope that this is an early sign of revival of the scientific activity in our country after the War in Croatia (1991-1995).

Anthropology↗

PubMed2003

Complex segregation analysis of body height, weight and BMI in pedigree data from Middle Dalmatia, Croatia.

It has recently been reported that the mode of inheritance of body height, weight and BMI in five ethnically and geographically different populations can be described in terms of a major gene (MG) model. Here, using the pedigree sample from the island populations of Middle Dalmatia, Croatia (1,312 observed individuals in 462 pedigrees), the evidence is presented that supports the above findings. By applying the usual transmission probability tests, the hypothesis has been accepted that a significant part of the variation of each one of those three basic morphological traits can be attributed to the effect of a putative large-effect gene. The effect of a putative MG is responsible for 39-50% of age and sex adjusted trait's variation and for 34-48% of the total (non age-adjusted) variation of height, weight and BMI.

Adolescent↗

PubMed2003

Youth and AIDS--a study of attitudes, knowledge, behavior and risks in the post-war Croatia.

According to the latest reports, the Eastern Europe currently exhibits the greatest relative increase in the number of newly registered HIV infections in the world. At the same time, Central Europe remains relatively spared from the epidemic, with reported rates significantly lower than those in both Eastern and Western Europe. Croatia geographically affiliates to Central Europe, but it has two specific potential risk factors in comparison to neighboring countries: recent War events and a summer season when immigration of large number of tourists from Central and Eastern Europe is expected. Therefore, it is critical to examine AIDS attitudes in young people, increase their knowledge, monitor their behavior and warn on risks in order to prevent larger spread of epidemics from Eastern Europe to Croatia. In this study, we report on a large related survey and education program among 17-year-old high school pupils that was conducted in years immediately following the War (1996-1999).

Acquired Immunodeficiency Syndrome↗

PubMed2003

Increase in cardiac contractility during puberty.

Pubertal growth of heart was analyzed. Growth rates of "diastolic variables" of heart size were compared with that of 'systolic', and both with growth intensities of some body structures and functions that are related to cardiac growth. Longitudinal echocardiographic, ergometric and anthropometric measurements were performed in 84 healthy boys, aged 11.5 years at the beginning and 14.5 at the end of study. Diastolic thickness of left ventricular walls increased by a mean rate of 15% and systolic by 36% (p < 0.001). As a result, percent systolic wall thickening increased from 20% to 41% during the 3 years (p < 0.001). Other measures of cardiac contractility increased in the same manner. Increase in measures of cardiac preload and afterload corresponds to the increase in heart "diastolic" and "systolic" variables, respectively. The study gave evidences for an increase in cardiac contractility during puberty. Coexistence of two simultaneous growth models for pubertal heart: diastolic and systolic, is suggested.

Adolescent↗