21 research outputs found
Geographical, linguistic, and cultural influences on genetic diversity: Y-chromosomal distribution in Northern European populations
Peer reviewe
The comparative responsiveness of Hospital Universitario Princesa Index and other composite indices for assessing rheumatoid arthritis activity
Objective
To evaluate the responsiveness in terms of correlation of the Hospital Universitario La Princesa Index (HUPI) comparatively to the traditional composite indices used to assess disease activity in rheumatoid arthritis (RA), and to compare the performance of HUPI-based response criteria with that of the EULAR response criteria.
Methods
Secondary data analysis from the following studies: ACT-RAY (clinical trial), PROAR (early RA cohort) and EMECAR (pre-biologic era long term RA cohort). Responsiveness was evaluated by: 1) comparing change from baseline (Delta) of HUPI with Delta in other scores by calculating correlation coefficients; 2) calculating standardised effect sizes. The accuracy of response by HUPI and by EULAR criteria was analyzed using linear regressions in which the dependent variable was change in global assessment by physician (Delta GDA-Phy).
Results
Delta HUPI correlation with change in all other indices ranged from 0.387 to 0.791); HUPI's standardized effect size was larger than those from the other indices in each database used. In ACT-RAY, depending on visit, between 65 and 80% of patients were equally classified by HUPI and EULAR response criteria. However, HUPI criteria were slightly more stringent, with higher percentage of patients classified as non-responder, especially at early visits. HUPI response criteria showed a slightly higher accuracy than EULAR response criteria when using Delta GDA-Phy as gold standard.
Conclusion
HUPI shows good responsiveness in terms of correlation in each studied scenario (clinical trial, early RA cohort, and established RA cohort). Response criteria by HUPI seem more stringent than EULAR''s
Y-chromosomal diversity in Europe is clinal and influenced primarily by geography, rather than by language
Clinal patterns of autosomal genetic diversity within Europe have been interpreted in previous studies in terms of a Neolithic demic diffusion model for the spread of agriculture; in contrast, studies using mtDNA have traced many founding lineages to the Paleolithic and have not shown strongly clinal variation. We have used 11 human Y-chromosomal biallelic polymorphisms, defining 10 haplogroups, to analyze a sample of 3,616 Y chromosomes belonging to 47 European and circum-European populations. Patterns of geographic differentiation are highly nonrandom, and, when they are assessed using spatial autocorrelation analysis, they show significant dines for five of six haplogroups analyzed. Clines for two haplogroups, representing 45% of the chromosomes, are continentwide and consistent with the demic diffusion hypothesis. Clines for three other haplogroups each have different foci and are more regionally restricted and are likely to reflect distinct population movements, including one from north of the Black Sea. principal-components analysis suggests that populations are related primarily on the basis of geography, rather than on the basis of linguistic affinity. This is confirmed in Mantel tests, which show a strong and highly significant partial correlation between genetics and geography but a low nonsignificant partial correlation between genetics and language. Genetic-barrier analysis also indicates the primacy of geography in the shaping of patterns of variation. These patterns retain a strong signal of expansion from the Near East but also suggest that the demographic history of Europe has been complex and influenced by other major population movements, as well as by linguistic and geographic heterogeneities and the effects of drift
CHARACTERISTIC FEATURES OF THE REAL ESTATE MARKET IN COMPARISON WITH ITS HIGH-ORGANIZED FORM
In the article, in accordance with the proposed indicators, the analysis of the peculiarities and differences of the so-called “organized markets” and the real estate market. This comparison can be used for development of methodological base analysis of the real estate market. The present study used structural and functional methodological approaches. As a scientific method of study were chosen: systematic method considering the real estate market in correlation with the sectoral structure of the economy as a whole; inductive method: building insights on the basis of information on the real estate market. The study is theoretical in nature. The article may be used for the development of the theoretical basis of the study of the real estate market and practical analysis of the market for its participants: realtors, developers, consultants etc
Investigation of the oxidation of VCl3 by perchlorate ions in the presence of certain complexones
The western and eastern roots of the Saami - The story of genetic “outliers” told by mitochondrial DNA and Y chromosomes
The Saami are regarded as extreme genetic outliers among European
populations. In this study, a high-resolution phylogenetic analysis of
Saami genetic heritage was undertaken in a comprehensive context,
through use of maternally inherited mitochondrial DNA ( mtDNA) and
paternally inherited Y-chromosomal variation. DNA variants present in
the Saami were compared with those found in Europe and Siberia, through
use of both new and previously published data from 445 Saami and 17,096
western Eurasian and Siberian mtDNA samples, as well as 127 Saami and
2,840 western Eurasian and Siberian Y-chromosome samples. It was shown
that the “Saami motif” variant of mtDNA haplogroup U5b is present in
a large area outside Scandinavia. A detailed phylogeographic analysis of
one of the predominant Saami mtDNA haplogroups, U5b1b, which also
includes the lineages of the “Saami motif,” was undertaken in 31
populations. The results indicate that the origin of U5b1b, as for the
other predominant Saami haplogroup, V, is most likely in western, rather
than eastern, Europe. Furthermore, an additional haplogroup (H1) spread
among the Saami was virtually absent in 781 Samoyed and Ob-Ugric
Siberians but was present in western and central European populations.
The Y-chromosomal variety in the Saami is also consistent with their
European ancestry. It suggests that the large genetic separation of the
Saami from other Europeans is best explained by assuming that the Saami
are descendants of a narrow, distinctive subset of Europeans. In
particular, no evidence of a significant directional gene flow from
extant aboriginal Siberian populations into the haploid gene pools of
the Saami was found
Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in Europe
To investigate which aspects of contemporary human Y-chromosome variation in Europe are characteristic of
primary colonization, late-glacial expansions from refuge areas, Neolithic dispersals, or more recent events of gene
flow, we have analyzed, in detail, haplogroup I (Hg I), the only major clade of the Y phylogeny that is widespread
over Europe but virtually absent elsewhere. The analysis of 1,104 Hg I Y chromosomes, which were identified in
the survey of 7,574 males from 60 population samples, revealed several subclades with distinct geographic distributions. Subclade I1a accounts for most of Hg I in Scandinavia, with a rapidly decreasing frequency toward both
the East European Plain and the Atlantic fringe, but microsatellite diversity reveals that France could be the source
region of the early spread of both I1a and the less common I1c. Also, I1b*, which extends from the eastern Adriatic
to eastern Europe and declines noticeably toward the southern Balkans and abruptly toward the periphery of
northern Italy, probably diffused after the Last Glacial Maximum from a homeland in eastern Europe or the
Balkans. In contrast, I1b2 most likely arose in southern France/Iberia. Similarly to the other subclades, it underwent
a postglacial expansion and marked the human colonization of Sardinia ∼9,000 years ago
Characterization of a novel 21-kb deletion, CFTRdele2,3 (21kb), in the CFTR gene: a cystic fibrosis mutation of a Slavic origin common in Central and East Europe.
We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2,3(21 kb), deletes 21,080 bp spanning introns 1-3 of the CFTR gene. Transcript analyses have revealed that this deletion results in the loss of exons 2 and 3 in epithelial CFTR mRNA, thereby producing a premature termination signal within exon 4. In order to develop a simple polymerase chain reaction assay for this allele, we defined the end-points of the deletion at the DNA sequence level. We next screened for this mutation in a representative set of European and European-derived populations. Some 197 CF patients, including seven homozygotes, bearing this mutation have been identified during the course of our study. Clinical evaluation of CFTRdele2,3(21 kb) homozygotes and a comparison of compound heterozygotes for \u394F508/CFTRdele2,3(21 kb) with pairwise-matched \u394F508 homozygotes indicate that this deletion represents a severe mutation associated with pancreatic insufficiency and early age at diagnosis. Current data show that the mutation is particularly common in Czech (6.4% of all CF chromosomes), Russian (5.2%), Belorussian (3.3%), Austrian (2.6%), German (1.5%), Polish (1.5%), Slovenian (1.5%), Ukrainian (1.2%), and Slovak patients (1.1%). It has also been found in Lithuania, Latvia, Macedonia and Greece and has sporadically been observed in Canada, USA, France, Spain, Turkey, and UK, but not in CF patients from Bulgaria, Croatia, Romania or Serbia. Haplotype analysis has identified the same extragenic CF-haplotype XV-2c/KM. 19 'A' and the same infrequent intragenic microsatellite haplotype 16-33-13 (IVS8CA-IVS17bTA-IVS17bCA) in all examined CFTRdele2,3(21 kb) chromosomes, suggesting a common origin for this deletion. We conclude that the 21-kb deletion is a frequent and severe CF mutation in populations of Eastern- and Western-Slavic descent
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: A cystic fibrosis mutation of Slavic origin common in Central and East Europe
We report a large genomic deletion of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, viz., a deletion that is frequently observed in Central and Eastern Europe. The mutation, termed CFTRdele2,3(21 kb), deletes 21,080 bp spanning introns 1-3 of the CFTR gene. Transcript analyses have revealed that this deletion results in the loss of exons 2 and 3 in epithelial CFTR mRNA, thereby producing a premature termination signal within exon 4. In order to develop a simple polymerase chain reaction assay for this allele, we defined the end-points of the deletion at the DNA sequence level. We next screened for this mutation in a representative set of European and European-derived populations. Some 197 CF patients, including seven homozygotes, bearing this mutation have been identified during the course of our study. Clinical evaluation of CFTRdele2,3(21 kb) homozygotes and a comparison of compound heterozygotes for ΔF508/CFTRdele2,3(21 kb) with pairwise-matched ΔF508 homozygotes indicate that this deletion represents a severe mutation associated with pancreatic insufficiency and early age at diagnosis. Current data show that the mutation is particularly common in Czech (6.4% of all CF chromosomes), Russian (5.2%), Belorussian (3.3%), Austrian (2.6%), German (1.5%), Polish (1.5%), Slovenian (1.5%), Ukrainian (1.2%), and Slovak patients (1.1%). It has also been found in Lithuania, Latvia, Macedonia and Greece and has sporadically been observed in Canada, USA, France, Spain, Turkey, and UK, but not in CF patients from Bulgaria, Croatia, Romania or Serbia. Haplotype analysis has identified the same extragenic CF-haplotype XV-2c/KM. 19 'A' and the same infrequent intragenic microsatellite haplotype 16-33-13 (IVS8CA-IVS17bTA-IVS17bCA) in all examined CFTRdele2,3(21 kb) chromosomes, suggesting a common origin for this deletion. We conclude that the 21-kb deletion is a frequent and severe CF mutation in populations of Eastern- and Western-Slavic descent.link_to_subscribed_fulltex