Molecular Variation of Rh, MN, Duffy, Kidd, Kell, and Lutheran Blood Groups in the Human Population of Bosnia and Herzegovina

Six blood groups (Rh, MN, Duffy, Kidd, Kell and Lutheran) were investigated among three major ethnic groups (Bosniaks, Bosnian Croats, and Bosnian Serbs) as well as ten regional subpopulations across Bosnia and Herzegovina (Krajina, Posavina, North-Eastern Bosnia, Eastern Bosnia, Middle Bosnia, Central Bosnia, Sarajevo Region, Eastern Herzegovina, Central Herzegovina, and Western Herzegovina). This is the first study that introduces the molecular genetic typing of five blood groups within the population of Bosnia and Herzegovina with the exception of RhD blood group. The sample consisted of 450 buccal swabs from unrelated individuals. Five blood group systems (RhD, RhC, RhE, Kidd, MN) were genotyped by the PCR-SSP method, while three blood group systems (Kell, Duffy, Lutheran) were genotyped by the PCR-RFLP method. Minor variation of genetic diversity was observed within the three major ethnic groups in B&H as well as within the ten subpopulations stratified according to geographical criteria. No genetic differentiation among ethnic groups was noticed. These results are in agreement with the results of previous studies based on different molecular genetics markers, which indicate that the three ethnic groups of Bosnia and Herzegovina belong to the same gene pool. A similar level of genetic variance was observed within regional subpopulations with no significant genetic differentiation among them. Comparison of intrapopulation genetic diversity of the Bosnian and Herzegovinian population with other European and non-European populations, based on the three loci (RHD, MN and KEL), clearly showed that the level of genetic diversity of the Bosnia and Herzegovina population is within the European range

The Impact of the International Cooperation On Familial Hypercholesterolemia Screening and Treatment: results from the ScreenPro FH Project

L

2016 ESC/EAS Guidelines for the Management of Dyslipidaemias

The Task Force for the Management of Dyslipidaemias of the European Society of Cardiology (ESC) and European Atherosclerosis Society (EAS)  Developed with the special contribution of the European Assocciation for Cardiovascular Prevention & Rehabilitation (EACPR)  ABI : ankle-brachial inde

2019 ESC/EAS guidelines for the management of dyslipidaemias : Lipid modification to reduce cardiovascular risk

Correction: Volume: 292 Pages: 160-162 DOI: 10.1016/j.atherosclerosis.2019.11.020 Published: JAN 2020Peer reviewe

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

Background: Approximately 450 000 children are born with familial hypercholesterolaemia worldwide every year, yet only 2·1% of adults with familial hypercholesterolaemia were diagnosed before age 18 years via current diagnostic approaches, which are derived from observations in adults. We aimed to characterise children and adolescents with heterozygous familial hypercholesterolaemia (HeFH) and understand current approaches to the identification and management of familial hypercholesterolaemia to inform future public health strategies. Methods: For this cross-sectional study, we assessed children and adolescents younger than 18 years with a clinical or genetic diagnosis of HeFH at the time of entry into the Familial Hypercholesterolaemia Studies Collaboration (FHSC) registry between Oct 1, 2015, and Jan 31, 2021. Data in the registry were collected from 55 regional or national registries in 48 countries. Diagnoses relying on self-reported history of familial hypercholesterolaemia and suspected secondary hypercholesterolaemia were excluded from the registry; people with untreated LDL cholesterol (LDL-C) of at least 13·0 mmol/L were excluded from this study. Data were assessed overall and by WHO region, World Bank country income status, age, diagnostic criteria, and index-case status. The main outcome of this study was to assess current identification and management of children and adolescents with familial hypercholesterolaemia. Findings: Of 63 093 individuals in the FHSC registry, 11 848 (18·8%) were children or adolescents younger than 18 years with HeFH and were included in this study; 5756 (50·2%) of 11 476 included individuals were female and 5720 (49·8%) were male. Sex data were missing for 372 (3·1%) of 11 848 individuals. Median age at registry entry was 9·6 years (IQR 5·8-13·2). 10 099 (89·9%) of 11 235 included individuals had a final genetically confirmed diagnosis of familial hypercholesterolaemia and 1136 (10·1%) had a clinical diagnosis. Genetically confirmed diagnosis data or clinical diagnosis data were missing for 613 (5·2%) of 11 848 individuals. Genetic diagnosis was more common in children and adolescents from high-income countries (9427 [92·4%] of 10 202) than in children and adolescents from non-high-income countries (199 [48·0%] of 415). 3414 (31·6%) of 10 804 children or adolescents were index cases. Familial-hypercholesterolaemia-related physical signs, cardiovascular risk factors, and cardiovascular disease were uncommon, but were more common in non-high-income countries. 7557 (72·4%) of 10 428 included children or adolescents were not taking lipid-lowering medication (LLM) and had a median LDL-C of 5·00 mmol/L (IQR 4·05-6·08). Compared with genetic diagnosis, the use of unadapted clinical criteria intended for use in adults and reliant on more extreme phenotypes could result in 50-75% of children and adolescents with familial hypercholesterolaemia not being identified. Interpretation: Clinical characteristics observed in adults with familial hypercholesterolaemia are uncommon in children and adolescents with familial hypercholesterolaemia, hence detection in this age group relies on measurement of LDL-C and genetic confirmation. Where genetic testing is unavailable, increased availability and use of LDL-C measurements in the first few years of life could help reduce the current gap between prevalence and detection, enabling increased use of combination LLM to reach recommended LDL-C targets early in life

Identifying Pollen Donors and Success Rate of Individual Pollinizers in European Plum (Prunus domestica L.) Using Microsatellite Markers

European plum cultivars (Prunus domestica L.) are hexaploid and partially self-fertile or self-sterile requiring compatible pollinizers with overlapping bloom times. Therefore, inter-planting of different pollinizer cultivars is recommended. In order to identify successful pollinizers of the plum cultivars ‘Edda’, ‘Opal’ (self-fertile), ‘Jubileum’, ‘Reeves’, ‘Mallard’, ‘Avalon’, ‘Cacanska Lepotica’ (self-fertile), and ‘Valor’, 60 fruits per cultivar were collected from nine orchards in 2017 and 2018, all of which were located in Ullensvang, western Norway. DNA extraction was subsequently conducted from the obtained embryos, followed by genetic characterization using seven microsatellite markers. Tissue samples from all possible pollinizers were collected during the summer of 2017 and the same DNA approach was conducted. Results showed that ‘Opal’ was the most successful pollinizer among the investigated plum cultivars. The main exception was ‘Cacanska Lepotica’, which consistently displayed very high level of self-pollination. The most successful foreign pollinizer of ‘Opal’ was ‘Mallard’. However, in more than two thirds of embryos extracted from ‘Opal’ fruits self-fertilization was determined. ‘Reeves’ was identified as the most successful pollinizer among embryos collected from ‘Valor’. Among the five cultivars (‘Edda’, ‘Jubileum’, ‘Reeves’, ‘Mallard’, and ‘Avalon’) that did not display self-pollination, the pollinizer success rate of ‘Opal’, ranged from 36.5% (‘Mallard’) to 93.5% (‘Edda’) in 2017, while in 2018 this rate ranged from 43.5% (‘Jubileum’ and ‘Reeves’) up to 96.5% (‘Edda’). Overall, genotyping embryos using SSRs (simple sequence repeats) proved an effective method in determining the success rate of individual pollinizers among European plum cultivars.publishedVersio

S-Genotyping and Seed Paternity Testing of the Pear Cultivar ‘Celina’

The diploid Celina/QTee® (‘Colorée de Juillet’ × ‘Williams’), one of the most promising pear cultivars developed by the Norwegian breeding program Graminor, was launched in 2010. In Norway, the flowering is medium to late, while the fruits ripen in the beginning of September. The fruits are attractive with an intense red blush (50%) on a green background. Although, ‘Celina’ is cultivated in the most climatically suitable regions for fruit cultivation, present in Norway, unfavorable environmental conditions for pear pollination can have a very negative effect on fruit set and consequent yield. The aim of this study was to determine the S-alleles of ‘Celina’, as well as its frequently used pollinizers, and, through paternity testing of ‘Celina’ seeds, give a recommendation regarding the most important pollinizers of this pear cultivar. In order to accomplish this, ‘Celina’ and its potential pollinizers were all S-genotyped. After harvest, seeds collected from ‘Celina’ fruit in 2017 and 2018 were genotyped using eleven microsatellite markers. Genomic DNA was also extracted from leaf material collected from ‘Celina’, as well as from five pear cultivars used as pollinizers in the three examined orchards, and analyzed using the same marker set. Subsequently a simple sequence repeat (SSR) database was constructed and used for gene assignment analyses with the aim of quantifying pollen donor contribution from individual pollinizers. The obtained results indicate that ‘Anna’, the only examined pollinizer that was fully cross-compatible with ‘Celina’, together with ‘Fritjof’, the genotype which had the highest flowering overlap with ‘Celina’, proved to be the most successful pollinizers across all seasons and orchards. Although both cultivars were ubiquitous in the examined orchards, either as planted trees or as branches introduced during the flowering period, they were the most abundant pollinizers in only one orchard each. It is therefore possible to conclude that pollinizer abundance has a secondary significance in pollinizer success within investigated ‘Celina’ orchards.publishedVersio

Analysis of the mitochondrial CYTB gene sequence in human populations of northeastern Bosnia

This study offers the first report on variation sequence of the mitochondrial cytochrome b (MT-CYTB) gene in populations from Bosnia (northeastern Bosnia). This study was designed on the analysis of the genetic diversity of two populations of different cultural-anthropological and genetic origin, Roma population and native/non-Roma population. The main aim of our study was to estimate the usefulness of the CYTB sequence in the analysis of genetic categorization of different populations and intergroup diversity, as well as to provide some additional information on haplogroup-associated polymorphisms within the CYTB region in defining haplogroup status. Estimation of the genetic diversity was done using intra and intergroup genetic indices. The population-specific polymorphisms have been found in both categories of the populations. The results of the analysis of genetic differentiation show significant pairwise Fst differences between the Romani and native populations. Also, registered significant genetic differentiation is illustrated on the level of genetic variation between subpopulations of the Roma and non-Roma origin. The important result in our study is the confirmation of the significance of the triad of polymorphisms T14783C-G15043A-G15301A, indicating the influence of Asian component of the maternal gene pool on the genetic structure of the studied population of the Roma. Our data show that the haplogroup polymorphisms exist in the CYTB region and can provide useful information on the haplogroups that were defined only by the control region of the mtDNA. The results of this study indicate the region of CYTB gene can be a benefit in providing some additional information in the analysis of genetic structure of human populations and can be additionally applied in population studies

S-Genotyping and Seed Paternity Testing of the Pear Cultivar ‘Celina’

The diploid Celina/QTee® (‘Colorée de Juillet’ × ‘Williams’), one of the most promising pear cultivars developed by the Norwegian breeding program Graminor, was launched in 2010. In Norway, the flowering is medium to late, while the fruits ripen in the beginning of September. The fruits are attractive with an intense red blush (50%) on a green background. Although, ‘Celina’ is cultivated in the most climatically suitable regions for fruit cultivation, present in Norway, unfavorable environmental conditions for pear pollination can have a very negative effect on fruit set and consequent yield. The aim of this study was to determine the S-alleles of ‘Celina’, as well as its frequently used pollinizers, and, through paternity testing of ‘Celina’ seeds, give a recommendation regarding the most important pollinizers of this pear cultivar. In order to accomplish this, ‘Celina’ and its potential pollinizers were all S-genotyped. After harvest, seeds collected from ‘Celina’ fruit in 2017 and 2018 were genotyped using eleven microsatellite markers. Genomic DNA was also extracted from leaf material collected from ‘Celina’, as well as from five pear cultivars used as pollinizers in the three examined orchards, and analyzed using the same marker set. Subsequently a simple sequence repeat (SSR) database was constructed and used for gene assignment analyses with the aim of quantifying pollen donor contribution from individual pollinizers. The obtained results indicate that ‘Anna’, the only examined pollinizer that was fully cross-compatible with ‘Celina’, together with ‘Fritjof’, the genotype which had the highest flowering overlap with ‘Celina’, proved to be the most successful pollinizers across all seasons and orchards. Although both cultivars were ubiquitous in the examined orchards, either as planted trees or as branches introduced during the flowering period, they were the most abundant pollinizers in only one orchard each. It is therefore possible to conclude that pollinizer abundance has a secondary significance in pollinizer success within investigated ‘Celina’ orchards