Abhängigkeit der Besiedlung benthischer Invertebraten von Hydromorphologie und Saprobie in silikatischen Mittelgebirgsbächen

Das Verständnis über die Ausprägung der Lebensgemeinschaften von benthischen Invertebraten in aquatischen Ökosystemen in Abhängigkeit von abiotischen Faktoren ist von grundlegender wissenschaftlicher Bedeutung und eine Voraussetzung für die Bewertung, den Schutz und die Wiederherstellung der ökologischen Integrität in Fließgewässern. Für die Erarbeitung von Abhängigkeiten zwischen der benthischen Lebensgemeinschaft, der Hydromorphologie und der Saprobie standen insgesamt 409 Datensätze in Form von Taxalisten des Makrozoobenthos zur Verfügung. Diese wurden mit Strukturgütedaten verschnitten und anhand uni- und multivariater statistischer Methoden analysiert. Folgende Ergebnisse konnten dabei erzielt werden: (a) es können sieben Einzelparameter der Gewässerstruktur identifiziert werden, die einen signifikanten Einfluss auf die benthische Biozönose ausüben, (b) die Fließgewässertypen 5 und 5.1 unterscheiden sich auf Basis des vorliegenden Datensatzes weder in der taxonomischen noch in der funktionalen Zusammensetzung der Makrozoobenthoszönose und (c) bei einer erhöhten saprobiellen Belastung überlagert der Einfluss der organischen Belastung die strukturellen Gegebenheiten. Für die Entwicklung und Anpassung effizienter Strukturgüteverfahren und die daraus resultierenden Monitoring- und Maßnahmenprogramme für ein integriertes Fließgewässermanagement ist die Auswahl ökologisch relevanter Parameter von immenser Bedeutung.The understanding about the development of benthic invertebrate communities as a function of abiotic influencing factors in aquatic ecosystems is of essential scientific relevance for the assessment of the ecological status of rivers and streams. For the development of interdependencies between benthic invertebrates, hydromorphology and saprobity, 409 species lists of the macroinvertebrates were provided. They were aggregated with morphological features and analysed with different uni- and multivariate statistical methods. On the basis of the used analyses, the following results were achieved: (a) seven ecological relevant morphological features with significant influence to benthic invertebrate community could be identified, (b) on the basis of the present database, the structural and functional composition of the benthic invertebrates can not be differ river type specific (type 5 and 5.1) and (c) if the saprobic pressure decrease, the organic pressure superpose the hydromorphology. The values of the biological attributes are low in spite of near natural morphological conditions. For an ecological efficiency stream habitat assessment, the identified relevant morphological parameters have to consider. The “morphological characteristic curves” are well describing the results of a local monitoring. This application-oriented instrument can be used for (a) the operationalisation of environmental objectives, (b) the development and adaption of monitoring strategies and (c) the derivation and prioritisation of ecological and economic efficiency measurements for an integrated river management

Abhängigkeit der Besiedlung benthischer Invertebraten von Hydromorphologie und Saprobie in silikatischen Mittelgebirgsbächen

Das Verständnis über die Ausprägung der Lebensgemeinschaften von benthischen Invertebraten in aquatischen Ökosystemen in Abhängigkeit von abiotischen Faktoren ist von grundlegender wissenschaftlicher Bedeutung und eine Voraussetzung für die Bewertung, den Schutz und die Wiederherstellung der ökologischen Integrität in Fließgewässern. Für die Erarbeitung von Abhängigkeiten zwischen der benthischen Lebensgemeinschaft, der Hydromorphologie und der Saprobie standen insgesamt 409 Datensätze in Form von Taxalisten des Makrozoobenthos zur Verfügung. Diese wurden mit Strukturgütedaten verschnitten und anhand uni- und multivariater statistischer Methoden analysiert. Folgende Ergebnisse konnten dabei erzielt werden: (a) es können sieben Einzelparameter der Gewässerstruktur identifiziert werden, die einen signifikanten Einfluss auf die benthische Biozönose ausüben, (b) die Fließgewässertypen 5 und 5.1 unterscheiden sich auf Basis des vorliegenden Datensatzes weder in der taxonomischen noch in der funktionalen Zusammensetzung der Makrozoobenthoszönose und (c) bei einer erhöhten saprobiellen Belastung überlagert der Einfluss der organischen Belastung die strukturellen Gegebenheiten. Für die Entwicklung und Anpassung effizienter Strukturgüteverfahren und die daraus resultierenden Monitoring- und Maßnahmenprogramme für ein integriertes Fließgewässermanagement ist die Auswahl ökologisch relevanter Parameter von immenser Bedeutung.The understanding about the development of benthic invertebrate communities as a function of abiotic influencing factors in aquatic ecosystems is of essential scientific relevance for the assessment of the ecological status of rivers and streams. For the development of interdependencies between benthic invertebrates, hydromorphology and saprobity, 409 species lists of the macroinvertebrates were provided. They were aggregated with morphological features and analysed with different uni- and multivariate statistical methods. On the basis of the used analyses, the following results were achieved: (a) seven ecological relevant morphological features with significant influence to benthic invertebrate community could be identified, (b) on the basis of the present database, the structural and functional composition of the benthic invertebrates can not be differ river type specific (type 5 and 5.1) and (c) if the saprobic pressure decrease, the organic pressure superpose the hydromorphology. The values of the biological attributes are low in spite of near natural morphological conditions. For an ecological efficiency stream habitat assessment, the identified relevant morphological parameters have to consider. The “morphological characteristic curves” are well describing the results of a local monitoring. This application-oriented instrument can be used for (a) the operationalisation of environmental objectives, (b) the development and adaption of monitoring strategies and (c) the derivation and prioritisation of ecological and economic efficiency measurements for an integrated river management

Analyse und Bewertung der Maßnahmen zur Umsetzung der Wasserrahmenrichtlinie in Bezug auf hydromorphologische Herausforderungen

ANALYSE UND BEWERTUNG DER MASSNAHMEN ZUR UMSETZUNG DER WASSERRAHMENRICHTLINIE IN BEZUG AUF HYDROMORPHOLOGISCHE HERAUSFORDERUNGEN Analyse und Bewertung der Maßnahmen zur Umsetzung der Wasserrahmenrichtlinie in Bezug auf hydromorphologische Herausforderungen / Völker, Jeanette (Rights reserved) ( -

Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals

Platelet production, maintenance, and clearance are tightly controlled processes indicative of platelets important roles in hemostasis and thrombosis. Platelets are common targets for primary and secondary prevention of several conditions. They are monitored clinically by complete blood counts, specifically with measurements of platelet count (PLT) and mean platelet volume (MPV). Identifying genetic effects on PLT and MPV can provide mechanistic insights into platelet biology and their role in disease. Therefore, we formed the Blood Cell Consortium (BCX) to perform a large-scale meta-analysis of Exomechip association results for PLT and MPV in 157,293 and 57,617 individuals, respectively. Using the low-frequency/rare coding variant-enriched Exomechip genotyping array, we sought to identify genetic variants associated with PLT and MPV. In addition to confirming 47 known PLT and 20 known MPV associations, we identified 32 PLT and 18 MPV associations not previously observed in the literature across the allele frequency spectrum, including rare large effect (FCER1A), low-frequency (IQGAP2, MAP1A, LY75), and common (ZMIZ2, SMG6, PEAR1, ARFGAP3/PACSIN2) variants. Several variants associated with PLT/MPV (PEAR1, MRVI1, PTGES3) were also associated with platelet reactivity. In concurrent BCX analyses, there was overlap of platelet-associated variants with red (MAP1A, TMPRSS6, ZMIZ2) and white (PEAR1, ZMIZ2, LY75) blood cell traits, suggesting common regulatory pathways with shared genetic architecture among these hematopoietic lineages. Our large-scale Exomechip analyses identified previously undocumented associations with platelet traits and further indicate that several complex quantitative hematological, lipid, and cardiovascular traits share genetic factors

Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function

In conducting genome-wide association studies (GWAS), analytical approaches leveraging biological information may further understanding of the pathophysiology of clinical traits. To discover novel associations with estimated glomerular filtration rate (eGFR), a measure of kidney function, we developed a strategy for integrating prior biological knowledge into the existing GWAS data for eGFR from the CKDGen Consortium. Our strategy focuses on single nucleotide polymorphism (SNPs) in genes that are connected by functional evidence, determined by literature mining and gene ontology (GO) hierarchies, to genes near previously validated eGFR associations. It then requires association thresholds consistent with multiple testing, and finally evaluates novel candidates by independent replication. Among the samples of European ancestry, we identified a genome-wide significant SNP in FBXL20 (P = 5.6 × 10−9) in meta-analysis of all available data, and additional SNPs at the INHBC, LRP2, PLEKHA1, SLC3A2 and SLC7A6 genes meeting multiple-testing corrected significance for replication and overall P-values of 4.5 × 10−4-2.2 × 10−7. Neither the novel PLEKHA1 nor FBXL20 associations, both further supported by association with eGFR among African Americans and with transcript abundance, would have been implicated by eGFR candidate gene approaches. LRP2, encoding the megalin receptor, was identified through connection with the previously known eGFR gene DAB2 and extends understanding of the megalin system in kidney function. These findings highlight integration of existing genome-wide association data with independent biological knowledge to uncover novel candidate eGFR associations, including candidates lacking known connections to kidney-specific pathways. The strategy may also be applicable to other clinical phenotypes, although more testing will be needed to assess its potential for discovery in genera

Genome-wide association and functional follow-up reveals new loci for kidney function

Chronic kidney disease (CKD) is an important public health problem with a genetic component. We performed genome-wide association studies in up to 130,600 European ancestry participants overall, and stratified for key CKD risk factors. We uncovered 6 new loci in association with estimated glomerular filtration rate (eGFR), the primary clinical measure of CKD, in or near MPPED2, DDX1, SLC47A1, CDK12, CASP9, and INO80. Morpholino knockdown of mpped2 and casp9 in zebrafish embryos revealed podocyte and tubular abnormalities with altered dextran clearance, suggesting a role for these genes in renal function. By providing new insights into genes that regulate renal function, these results could further our understanding of the pathogenesis of CKD

Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study

The prevalence of hypertension in African Americans (AAs) is higher than in other US groups; yet, few have performed genome-wide association studies (GWASs) in AA. Among people of European descent, GWASs have identified genetic variants at 13 loci that are associated with blood pressure. It is unknown if these variants confer susceptibility in people of African ancestry. Here, we examined genome-wide and candidate gene associations with systolic blood pressure (SBP) and diastolic blood pressure (DBP) using the Candidate Gene Association Resource (CARe) consortium consisting of 8591 AAs. Genotypes included genome-wide single-nucleotide polymorphism (SNP) data utilizing the Affymetrix 6.0 array with imputation to 2.5 million HapMap SNPs and candidate gene SNP data utilizing a 50K cardiovascular gene-centric array (ITMAT-Broad-CARe [IBC] array). For Affymetrix data, the strongest signal for DBP was rs10474346 (P= 3.6 × 10−8) located near GPR98 and ARRDC3. For SBP, the strongest signal was rs2258119 in C21orf91 (P= 4.7 × 10−8). The top IBC association for SBP was rs2012318 (P= 6.4 × 10−6) near SLC25A42 and for DBP was rs2523586 (P= 1.3 × 10−6) near HLA-B. None of the top variants replicated in additional AA (n = 11 882) or European-American (n = 69 899) cohorts. We replicated previously reported European-American blood pressure SNPs in our AA samples (SH2B3, P= 0.009; TBX3-TBX5, P= 0.03; and CSK-ULK3, P= 0.0004). These genetic loci represent the best evidence of genetic influences on SBP and DBP in AAs to date. More broadly, this work supports that notion that blood pressure among AAs is a trait with genetic underpinnings but also with significant complexit

Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

Numerous genetic loci have been associated with systolic blood pressure (SBP) and diastolic blood pressure (DBP) in Europeans. We now report genome-wide association studies of pulse pressure (PP) and mean arterial pressure (MAP). In discovery (N = 74,064) and follow-up studies (N = 48,607), we identified at genome-wide significance (P = 2.7 × 10(-8) to P = 2.3 × 10(-13)) four new PP loci (at 4q12 near CHIC2, 7q22.3 near PIK3CG, 8q24.12 in NOV and 11q24.3 near ADAMTS8), two new MAP loci (3p21.31 in MAP4 and 10q25.3 near ADRB1) and one locus associated with both of these traits (2q24.3 near FIGN) that has also recently been associated with SBP in east Asians. For three of the new PP loci, the estimated effect for SBP was opposite of that for DBP, in contrast to the majority of common SBP- and DBP-associated variants, which show concordant effects on both traits. These findings suggest new genetic pathways underlying blood pressure variation, some of which may differentially influence SBP and DBP

Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

Blood pressure is a heritable trait influenced by several biological pathways and responsive to environmental stimuli. Over one billion people worldwide have hypertension (≥140 mm Hg systolic blood pressure or  ≥90 mm Hg diastolic blood pressure). Even small increments in blood pressure are associated with an increased risk of cardiovascular events. This genome-wide association study of systolic and diastolic blood pressure, which used a multi-stage design in 200,000 individuals of European descent, identified sixteen novel loci: six of these loci contain genes previously known or suspected to regulate blood pressure (GUCY1A3-GUCY1B3, NPR3-C5orf23, ADM, FURIN-FES, GOSR2, GNAS-EDN3); the other ten provide new clues to blood pressure physiology. A genetic risk score based on 29 genome-wide significant variants was associated with hypertension, left ventricular wall thickness, stroke and coronary artery disease, but not kidney disease or kidney function. We also observed associations with blood pressure in East Asian, South Asian and African ancestry individuals. Our findings provide new insights into the genetics and biology of blood pressure, and suggest potential novel therapeutic pathways for cardiovascular disease prevention