Reduced Neutrophil Count in People of African Descent Is Due To a Regulatory Variant in the Duffy Antigen Receptor for Chemokines Gene

Persistently low white blood cell count (WBC) and neutrophil count is a well-described phenomenon in persons of African ancestry, whose etiology remains unknown. We recently used admixture mapping to identify an approximately 1-megabase region on chromosome 1, where ancestry status (African or European) almost entirely accounted for the difference in WBC between African Americans and European Americans. To identify the specific genetic change responsible for this association, we analyzed genotype and phenotype data from 6,005 African Americans from the Jackson Heart Study (JHS), the Health, Aging and Body Composition (Health ABC) Study, and the Atherosclerosis Risk in Communities (ARIC) Study. We demonstrate that the causal variant must be at least 91% different in frequency between West Africans and European Americans. An excellent candidate is the Duffy Null polymorphism (SNP rs2814778 at chromosome 1q23.2), which is the only polymorphism in the region known to be so differentiated in frequency and is already known to protect against Plasmodium vivax malaria. We confirm that rs2814778 is predictive of WBC and neutrophil count in African Americans above beyond the previously described admixture association (P = 3.8×10^−5), establishing a novel phenotype for this genetic variant

Genetic Differences between the Determinants of Lipid Profile Phenotypes in African and European Americans: The Jackson Heart Study

Genome-wide association analysis in populations of European descent has recently found more than a hundred genetic variants affecting risk for common disease. An open question, however, is how relevant the variants discovered in Europeans are to other populations. To address this problem for cardiovascular phenotypes, we studied a cohort of 4,464 African Americans from the Jackson Heart Study (JHS), in whom we genotyped both a panel of 12 recently discovered genetic variants known to predict lipid profile levels in Europeans and a panel of up to 1,447 ancestry informative markers allowing us to determine the African ancestry proportion of each individual at each position in the genome. Focusing on lipid profiles—HDL-cholesterol (HDL-C), LDL-cholesterol (LDL-C), and triglycerides (TG)—we identified the lipoprotein lipase (LPL) locus as harboring variants that account for interethnic variation in HDL-C and TG. In particular, we identified a novel common variant within LPL that is strongly associated with TG (p = 2.7×10−6) and explains nearly 1% of the variability in this phenotype, the most of any variant in African Americans to date. Strikingly, the extensively studied “gain-of-function” S447X mutation at LPL, which has been hypothesized to be the major determinant of the LPL-TG genetic association and is in trials for human gene therapy, has a significantly diminished strength of biological effect when it is found on a background of African rather than European ancestry. These results suggest that there are other, yet undiscovered variants at the locus that are truly causal (and are in linkage disequilibrium with S447X) or that work synergistically with S447X to modulate TG levels. Finally, we find systematically lower effect sizes for the 12 risk variants discovered in European populations on the African local ancestry background in JHS, highlighting the need for caution in the use of genetic variants for risk assessment across different populations

Reduced Neutrophil Count in People of African Descent Is Due To a Regulatory Variant in the Duffy Antigen Receptor for Chemokines Gene

Persistently low white blood cell count (WBC) and neutrophil count is a well-described phenomenon in persons of African ancestry, whose etiology remains unknown. We recently used admixture mapping to identify an approximately 1-megabase region on chromosome 1, where ancestry status (African or European) almost entirely accounted for the difference in WBC between African Americans and European Americans. To identify the specific genetic change responsible for this association, we analyzed genotype and phenotype data from 6,005 African Americans from the Jackson Heart Study (JHS), the Health, Aging and Body Composition (Health ABC) Study, and the Atherosclerosis Risk in Communities (ARIC) Study. We demonstrate that the causal variant must be at least 91% different in frequency between West Africans and European Americans. An excellent candidate is the Duffy Null polymorphism (SNP rs2814778 at chromosome 1q23.2), which is the only polymorphism in the region known to be so differentiated in frequency and is already known to protect against Plasmodium vivax malaria. We confirm that rs2814778 is predictive of WBC and neutrophil count in African Americans above beyond the previously described admixture association (P = 3.8×10−5), establishing a novel phenotype for this genetic variant

Zastosowanie technologii jet grouting przy wzmacnianiu budynków w zwartej zabudowie miejskiej

Rozwój cywilizacyjny coraz częściej wymusza konieczność poszukiwania technologii umożliwiających efektywne zagospodarowanie dostępnej przestrzeni miejskiej. Na terenach silnie zurbanizowanych przebudowa istniejących budynków oraz rewitalizacja obiektów zabytkowych może okazać się jedynym możliwym i rozsądnym rozwiązaniem. Tworzenie dodatkowych kondygnacji podziemnych lub pogłębianie istniejących piwnic umożliwia uzyskanie dodatkowej kubatury obiektu

Low temperature Raman study of stable and metastable structures of phenylacetylene in benzene. Vibrational dynamics in undercooled liquid solutions, crystals, and glassy crystals

Abstract Raman spectra of the m s (uC-H) and m s (CuC) stretching modes as well as Raman spectra in the lattice region 15-200 cm À1 of phenylacetylene (PA) dissolved in benzene in homogeneous liquid solutions, undercooled liquid state, crystal, and glassy matrices as a function of concentration, temperature, and quenching rate have been recorded in the temperature range of 77-293 K. The optical measurements were complemented by the differential scanning calorimetry (DSC) measurements. One has been demonstrated that the Raman spectroscopy combined with the DSC method is a powerful tool to obtain information about the nature of phase transitions at the molecular level. The results reveal some dramatic changes with concentration, temperature, and quenching rate and are of potential relevance both to fundamental condensed phase modelling and to liquid crystal technology. We have discussed the origin of a vibrational substructure observed for the stretching modes of phenylacetylene in benzene. We have found that the components of the vibrational structure correspond to stable, equilibrium crystal phase, and two non-equilibrium glassy crystal phases. Low temperature polymorphism of phenylacetylene-benzene mixtures in a broad temperature range of 77-293 K has been characterized. We have found that the low temperature polymorphism of phenylacetylene strongly depends on concentration, temperature, and quenching rate. We hope this paper is an important step in understanding mechanisms of nucleation and irreversible phase transitions.

Analiza możliwości pozyskania energii cieplnej ze spalania wybranych gatunków słomy zbóż

Wheat, corn and rapeseed straw can be used as a raw material for the production of biofuels used to generate heat energy. Due to the growing interest in renewable fuels, including straw, it is reasonable to test the energy suitability of these fuels. The aim of the study was to compare the combustion heat and calorific value of particular straw species. The most important parameters enabling comparison of the above mentioned fuels were determined, which include: humidity, combustion heat and calorific value. The moisture content of individual wood samples was: 6.32% for wheat straw, 8.40% for corn straw and 8.49% for rapeseed straw. The analysis showed that the moisture content of the straw samples tested was at a similar level. Combustion heat analysis allowed to obtain the following results: 16.10 MJ⋅kg-1 for wheat straw, 16.60 MJ⋅kg1 for rapeseed straw and 17.30 MJ⋅kg-1 for maize straw. The highest combustion heat was observed for corn straw. The same parameter for rapeseed straw was lower by 0.7 MJ⋅kg-1 than for maize straw. The lowest combustion heat of 16.10 MJ⋅kg-1 was observed for wheat straw. The calorific value of the samples tested was: 14.80 MJ⋅kg-1 for wheat straw, 15.30 MJ⋅kg-1 for rapeseed straw and 16.10 MJ⋅kg-1 for maize straw. The highest calorific value was found for corn straw. The calorific value of wheat straw was lower by about 9%, while rapeseed straw was lower by about 5% in comparison to maize straw. On the basis of the conducted research and literature data concerning the yields of straw of various cereal species, the amount of energy possible to obtain per hectare of cultivation was estimated. With the yield per hectare for: wheat straw 3.2 Mg d.m., rapeseed straw 3.3 Mg d.m., maize straw 12.5 Mg d.m. can be obtained for: wheat straw 47.36 GJ⋅ha-1 , rapeseed straw 50.49 GJ⋅ha-1 , maize straw 201.25 GJ⋅ha-1 .Słoma pszenna, kukurydziana oraz rzepakowa może stanowić surowiec do produkcji biopaliw wykorzystywanych na cele pozyskiwania energii cieplnej. W związku z rosnącym zainteresowaniem paliwami odnawialnymi, w tym słomą zasadnym jest badanie przydatności energetycznej tych paliw. Celem badań było porównanie ciepła spalania oraz wartości opałowej poszczególnych gatunków słomy. Określono najważniejsze parametry umożliwiające porównanie wyżej wymienionych paliw, do których zaliczamy: wilgotność, ciepło spalania oraz wartość opałową. Wilgotność poszczególnych próbek drewna wynosiła: 6,32% dla słomy pszennej, 8,40% dla słomy kukurydzianej, oraz 8,49% dla słomy rzepakowej. Przeprowadzona analiza wykazała, że wilgotność badanych próbek słomy była na podobnym poziomie. Badanie ciepła spalania umożliwiło uzyskanie następujących wyników: 16,10 MJ⋅kg-1 dla słomy pszennej, 16,60 MJ⋅kg-1 dla słomy rzepakowej oraz 17,30 MJ⋅kg-1 dla słomy kukurydzianej. Najwyższe ciepło spalania zaobserwowano dla słomy kukurydzianej. Ten sam parametr dla słomy rzepakowej był o 0,7 MJ⋅kg-1 niższy niż dla słomy kukurydzianej. Najniższym ciepłem spalania 16,10 MJ⋅kg-1 charakteryzowała się słoma pszenna. Wartość opałowa badanych próbek wynosiła: 14,80 MJ⋅kg-1 dla słomy pszennej, 15,30 MJ⋅kg-1 dla słomy rzepakowej oraz 16,10 MJ⋅kg-1 dla słomy kukurydzianej. Najwyższą wartością opałową charakteryzowała się słoma kukurydziana. Wartość opałowa słomy pszennej była niższa o około 9%, natomiast słomy rzepakowej niższa o około 5% w porównaniu do słomy kukurydzianej. Na podstawie przeprowadzonych badań oraz danych literaturowych dotyczących wielkości plonów słomy różnych gatunków zbóż oszacowano ilość możliwej do uzyskania energii z jednego hektara uprawy. Przy plonie z jednego hektara dla: słomy pszennej 3,2 Mg s.m., słomy rzepakowej 3,3 Mg s.m, słomy kukurydzianej 12,5 Mg s.m. można uzyskać dla: słomy pszennej 47,36 GJ⋅ha-1 , słomy rzepakowej 50,49 GJ⋅ha-1 , słomy kukurydzianej 201,25 GJ⋅ha-1