bluuebunny/crossref_metadata_2025_split huggingface dataset:
Exploring the impact of extended phenotype in stratified samples
Authors: Kovac Ilija , Rouillard Eric , Mérette Chantai , Palmour Roberta 
Published: November 2013

AbstractWe have performed initial nonparametric sib‐pair genome scans in the early (N = 52) and late (N = 53) onset subgroups of the COGA pedigrees, stratified near the median value of pedigree mean age of onset for ALDX1 diagnosis of alcoholism. Because the early group contained a higher proportion of smokers, traits of alcoholism, smoking, and addiction (defined as either alcoholism or smoking) were examined. Subgroups and phenotypic definitions influenced initial linkage results, corrected for the number of analyzed traits. Evidence for linkage to the ALDX1 alcoholism phenotype at the ADH3 functional candidate gene was increased in the late onset subgroup (Bonferroni corrected significance level < 0.002), as compared with the unstratified sample that replicated COGA linkage obtained in the same analysis; there was no evidence for linkage at this locus in the early onset subgroup. The theoretical implication of this result is that the loss of power due to contracting sample size through stratification may in some cases be more than offset by extraction of a more homogenous subgroup from the etiologically complex trait.
A multiple locus analysis of the collaborative study on the genetics of alcoholism data set
Authors: Lin Shili , Irwin Mark E. , Wright Fred A. 
Published: November 2013

AbstractParametric and nonparametric statistical methods have been applied to the alcohol dependence data set collected in the Collaborative Study on the Genetics of Alcoholism (COGA). Our nonparametric linkage analyses (NPL) were based on the Sall statistic of GENEHUNTER [Kruglyak et al., 1996] and the improved NPL statistic of GENEHUNTER‐PLUS [Kong and Cox, 1997]. Based on likely regions for alcohol susceptibility genes identified from our nonparametric analyses, we reanalyzed the data using several two‐locus models. We used the TMLINK program [Lathrop and Ott, 1990] in the LINKAGE package for these parametric analyses.
Exploring linkage for alcoholism using affection status and quantitative event related potential phenotypes
Authors: Lunetta Kathryn L. , Wilcox Marsha , Smoller Jordan , Neuberg Donna 
Published: November 2013

AbstractUsing genome‐scan data from the Collaborative Study on the Genetics of Alcoholism (COGA), we compared results of linkage analyses using a qualitative alcoholism phenotype to results of linkage analyses using event related potential (ERP) quantitative phenotypes, and compared our results to the results of Reich et al. [1998] and Begleiter et al. [1998]. We describe a general and simple strategy for identifying regions of the genome which may harbor genes involved in alcohol dependence which takes into consideration the results of both the affection status and ERP linkage analyses.
Evidence of linkage in subtypes of alcoholism
Authors: Mérette Chantai , Cayer Mireille , Rouillard Eric , Roy‐Gagnon Marie‐Hèlène , Guibord Pascal , Kovac Ilija , Ghazzali Nadia , Szatmari Peter , Roy Marc‐André , Maziade Michel , Palmour Roberta 
Published: November 2013

AbstractWe believed that subtyping alcoholism might be an efficient strategy for mapping susceptibility genes. Cluster analysis is one of the possible statistical techniques for such a purpose. We required that, ideally, the variables to be used in cluster analysis should be: 1) related to alcoholism, 2) related to the severity of alcoholism, and 3) familial, i.e., correlated within families. Only three variables met all three conditions. Those included age of onset of ALDX1, smoking, and TPQ‐HA. A global score of symptoms of alcoholism was systematically introduced as one of the variables composing a subset for cluster analysis, although this score did not show any familial aggregation. Our strategy led to a strong evidence of linkage at D15S230 in only 20 families whose members are mainly characterized by heavy smoking.
Sex‐based linkage analysis of alcoholism
Authors: Paterson Andrew D. , Petronis Arturas 
Published: November 2013

AbstractA high degree of locus heterogeneity is likely in alcoholism, and linkage heterogeneity analysis may be helpful in mapping susceptibility loci. The genetic contribution to alcoholism in females may be higher than in males, and therefore sex of affected individuals was used in linkage analysis. Families with female alcoholics demonstrated evidence for linkage to chromosomes 1 Op 11‐p15 and 21q22.1‐q22.2 while those with male alcoholics did not provide evidence for linkage to these regions. Sharing of maternal and paternal alleles was also investigated separately, and evidence for linkage of maternal alleles on chromosomes 1 and 8, and paternal alleles on chromosome 2 was observed, suggesting parental origin effects. Mapping of complex traits may benefit from tests of linkage heterogeneity based on sex, and parental origin.
A genome‐wide search for susceptibility genes linked to alcohol dependence
Authors: Peterson L.E. , Barnholtz J.S. , Page G.P. , King T.M. , de Andrade M. , Amos C.I. 
Published: November 2013

AbstractWe performed two‐point linkage analysis during a genome‐wide search for susceptibility genes that predispose to alcohol dependence with the Collaborative Study on the Genetics on Alcoholism (COGA) data made available for the Genetic Analysis Workshop 11 (GAW11). For chromosomes 1 and 4 our findings supported results reported by Reich et al. [1998] based on the same data. We found similarity between our findings in regions on chromosomes 8 and 10 and reported results for schizophrenia linkage studies. Differences between our results with COGA data and those obtained by Reich et al. [1998] are due to our use of a lod score method versus their use of the affected relative pair (sib pair) method.
Analysis of principal component based quantitative phenotypes for alcoholism
Authors: Scholz Michael , Schmidt Silke , Loesgen Sabine , Bickeböller Heike 
Published: November 2013

AbstractPrincipal component analysis was used to construct quantitative phenotypes for alcoholism. These were analyzed for linkage to genomic regions with a variance components approach. The four phenotypes considered were a factor describing medical symptoms of alcohol dependency, a factor describing a psychological profile correlated with susceptibility to alcoholism, monoamine oxidase B (MAOB) activity and an average measurement of the P3 component of event‐related potentials (ERP) at the Fp electrode placements. One region (around marker GATA123C09 on chromosome 3) with suggestive evidence for linkage was detected for the P3 (Fp) measurement. For three of the four distinct phenotypes, modest evidence for linkage to a similar region (around marker ADH3 on chromosome 4) was found.
Family density of alcoholism and linkage information in the analysis of the COGA data
Authors: Turecki Gustavo , Rouleau Guy A. , Alda Martin 
Published: November 2013

AbstractIn this study of GAW11 Problem 1, we analyzed the genome scan data in families weighted according to the density of alcoholism among the probands' siblings. We hypothesized that certain disease‐predisposing alleles may be common in the general population, rendering high‐density sibships less informative for linkage. Three types of families were found in the data, with the prevalence of alcoholism of 1.0, 0.78, and 0.24 in the probands' sibships. The linkage results showed several peak lod scores on chromosomes 1, 2, 4, 8, 11, 19, and 21, the majority of which originated in only one or two types of families. However, for almost all markers, the maximum lod scores observed without the weights were equal to or exceeded the values obtained for any single type of family. These results indicate that although the stratification of families may be theoretically justified, in practice the best strategy is to use all available information.
Genetic linkage analysis of simulated complex disease data
Authors: Alarcón Maricela , Wang Yaping , Rotter Jerome I. , Yang Huiying 
Published: November 2013

AbstractThe purpose of this analysis was to apply current analytic methods to a simulated data set with a recognized genetic model in order to identify the loci that affect a complex disease, detect evidence for the interaction among two of the loci, and detect the gene‐environment interaction. The following analytic tools were used: two multipoint linkage analysis programs, a stratification strategy based on the results of the multipoint analysis, and a case‐control analysis using discordant sib pair data. The results were consistent with the underlying genetic model: a disease due to a major gene on chromosome 3 associated with an environmental risk factor, and two minor interacting loci on chromosomes 1 and 5.
Complete genomic screen for disease susceptibility loci in nuclear families
Authors: Anderson J.L. , Hauser E.R. , Martin E.R. , Scott W.K. , Ashley‐Koch A. , Kim K.J. , Monks S.A. , Haynes C.S. , Speer M.C. , Pericak‐Vance M.A. 
Published: November 2013

AbstractWe performed genome‐wide model dependent and independent analyses on a simulated data set of 400 families segregating for a rare disorder. Regions on chromosomes 1, 3, and 5 were consistently indicated across the various analyses performed. Follow‐up analyses included stratification for locus heterogeneity and clinical phenotype and studies of gene×gene and gene×environment interaction. The region around D1G024 was most notable, showing strong association and linkage with the trait. We also identified regions D3G043–46 and D5G037–39 by strong linkage and association findings and region D1G001–09 by linkage analysis. A complex statistical interaction was suggested between D1G024, D3G046 and environmental factor 1. This report suggests that traditional methods of analysis can be implemented to analyze and describe the mechanisms that may underlie the more complex genetic disorders.
Strategies for detecting susceptibility genes in a complex disease
Authors: Babron Marie‐Claude , Barillot Emmanuel , Margaritte‐Jeannin Patricia , Clerget‐Darpoux Françoise 
Published: November 2013

AbstractOne of the current issues in genetic epidemiology is detecting susceptibility genes on the genome. It is common now to undertake systematic screening of the genome using approaches based on a measure of the haplotype sharing in sib pairs. Here, we compare the efficiency of two statistics, the maximum likelihood score (MLS) and the nonparametric linkage score (NPLa) on the simulated data provided for GAW11. A question often raised is whether it is better to perform a single‐step or a two‐step strategy. For the simulated model, and whatever the strategy used, we show here that the answer is not unequivocal. In both cases, the power to detect susceptibility genes in a single replicate with MLS or NPL is extremely low. With two replicates, only one of the four simulated loci could be detected with reasonable power. When gametic disequilibrium is suspected, methods testing for both linkage and association might be more powerful.
A simple allele sharing statistic for multiple locus systems
Authors: Barmada M. Michael , Aston Christopher E. , Feingold Eleanor 
Published: November 2013

AbstractFor complex disorders where the actions of several interacting loci must be taken into account, current methods of joint linkage analysis are problematic. We have undertaken an exploration of simultaneous search statistics originally proposed by Dupuis et al. [1995]. Additionally, we have extended these methods slightly and propose here a simple simultaneous search statistic based upon the single‐point allele sharing statistic calculated from GENEHUNTER (GH). The use of conditional search techniques is also explored.
Evaluation of the contribution of environmental factors
Authors: Darlington Gerarda A. , Shin Janey , Paterson Andrew D. , Liu Ying , Fallah Shafagh , Toma Camil 
Published: November 2013

AbstractFor the simulated data of GAW11, the roles of two environmental factors, E1 and E2, were investigated. Logistic regression analyses measuring the association between outcome (either mild or severe disease versus no disease) and E1 and E2 exposure indicated that E1 was a risk factor for disease (either mild or severe) but that E2 was not associated with outcome. Linkage analyses were performed for strata defined by E1 and E2 exposure. A specific disease locus was identified in these stratified analyses where this locus would not have been identified with an unstratified linkage analysis. Finally, stratified generalized transmission disequilibrium test analyses yielded several false positive results.
Search for susceptibility genes, gene×gene interactions, and gene×environment interactions utilizing nonparametric linkage analysis
Authors: Ehm Margaret Gelder , Karnoub Maha Chabhar , Jean Pamela St. 
Published: November 2013

AbstractThere may be a different genetic basis for the two forms of the disease simulated in Problem 2 and the complex disease may be affected by environmental factors. Hence, we investigate the effects of two environmental factors. We selected 400 nuclear families from the data generated for Problem 2. Affection status was investigated in several ways. Individuals with severe and mild forms of the disease were both considered affected, individuals with only the severe form were considered affected while those with the mild form were considered unknown, and individuals with only the mild form were considered affected while those with the severe form were considered unknown. We found evidence of linkage between putative disease loci and markers in the D3G042‐D3G049 and D5G031‐D5G042 regions when we considered severely and mildly affected individuals as affected and also in the region D1G004‐D1G013 when mildly affected individuals were considered unknown. We observed interactions between the first environmental factor and D1G043 among healthy sib pairs.
Detection and modeling of disease susceptibility locus effects: How much can be learned from contrast of populations?
Authors: Génin Emmanuelle , Guyon Frédéric , Margaritte‐Jeannin Patricia , Quesneville Hadi , Clerget‐Darpoux Françoise 
Published: November 2013

AbstractWe report the results of our analyses of the GAW11 Problem 2 data set, using information from three different populations. In the first part of the paper, we used classical population genetic tests to compare affected individuals from the different populations, stratifying on the environmental factors. Thanks to existing linkage disequilibrium in one population, we found one of the disease susceptibility loci. In the second part of the paper, we used the marker association segregation χ2 method to model the role of this disease susceptibility locus in the different populations and draw some inferences regarding the model used at that locus to generate the data.
Meta‐analysis of genetic linkage to quantitative trait loci with study‐specific covariates: A mixed‐effects model
Authors: Gu Chi , Province M. , Rao D.C. 
Published: November 2013

AbstractA method of meta‐analysis was used to combine summary linkage information from four hypothetical study groups simulated in GAW11 Problem 2 with no knowledge of the answer. Five replication studies were selected from each group, and a pool of 20 primary studies was used for combining. Using a mixed‐effects model with the among‐study variation as random effects, we pooled results from all the 20 studies and detected strong linkage signals on chromosome 5 at D5G38 and on chromosome 3 near D3G45. We also found suggestive signals on chromosome 1 near D1G9, and possible interaction of D1G24 with the selection for the severe form of the disease.
Phosphate and Silica Adsorption and Desorption from Soils
Authors: Kafkafi U. , Giskin M. , Hagin J. 
Published: November 2013

AbstractPhosphate adsorption and desorption in conjunction with silica desorption, were studied on soils of two field experiments. The soil samples were taken from control plots and plots that had received a total of 14 ton/ha superphosphate over a three‐year period. Initially, silica desorption was increased by P added in the past as fertilizer and that added in equilibration solutions. Subsequently, after repeated washings, the rate of silica desorption was independent of the previous phosphate treatment. The adsorbed P was completely leached from the high P fertilized samples but not from those of the control. The slow reaction of phosphate with the soil was accompanied by a release of silica to the equilibrium solution. Most of the slow reaction product was not isotopically exchangeable in 48 hr.
Weathering Products of Basalt in the Galilee. I. Rock‐Soil Interface Weathering
Authors: Singer A. 
Published: November 2013

AbstractThe most common weathering form of the cover basalt in the Galilee is a thin weathering crust characterized by a sharp concentration change of some of the chemical constituents across the rock‐soil interface. Large losses of Mg, Ca, Na, K and smaller ones of Si have occurred in the clay fraction of the crust and are accompanied by the nearly complete disappearance of mafic minerals. Plagioclase persists in part in the clay fraction of the crust indicating a greater stability of this mineral. Clay minerals formed in the course of the weathering include smectite, halloysite and kaolinite. The chemical and mineralogical transitions across the sharply defined weathering front are associated with changes in the pH environment of the unaltered rock, of the crust and of the soil.
The Structure of N‐(Alkoxycarbonyl)Guanidines
Authors: Hoffmann E. , Laub C. 
Published: November 2013

AbstractA number of N‐(alkoxycarbonyl)guanidines have been synthesized and their IR spectra determined. These spectra show the compounds to exist in the acylimino form. The corresponding UV and NMR spectra—though not conclusive by themselves — are in agreement with this result.
Direct Selective Tosylation of Some Pentosides
Authors: Friedman Noga , Cohen S. , Bergmann E.D. 
Published: November 2013

AbstractDirect selective tosylation of benzyl α‐D‐xylopyranoside leads first to the 3‐O‐tosyl, then to the 2,3‐di‐O‐tosyl derivative. The same procedure applied to benzyl β‐D‐arabinopyranoside leads first to the 2‐O‐tosyl then to the 2,3‐di‐O‐tosyl derivatives. The ease of preparation and separation of these products offers a definite advantage over indirect methods that rely on the use of temporary masking groups.
Attempted Skeletal Rearrangements in the Lanostane Series
Authors: Levy E. C. , Lavie D. 
Published: November 2013

AbstractThe conversion of a lanostane skeleton into a cucurbitane (C‐9β‐Me) has been explored. Several derivatives with an oxirane ring in the appropriate location to induce a methyl migration (while having an adjacent oxygen function as required in the cucurbitacins) have been treated with SnCl4. The reaction took however, a different course and the products have been analysed and identified. During treatment with SnCl4 of the epoxy‐lanostane derivative having a diosphenol system in ring A, an acid stable organo‐tin complex was observed to be formed. Base hydrolysis of this complex produced compounds similar to those obtained in the previous examples.
Ozonide and Hydroperoxy Radicals in Flash Photolysis of Hydrogenperoxide
Authors: Behar D. , Czapski G. 
Published: November 2013

AbstractThe properties of ozonide and hydroperoxy radicals were studied in the flash photolysis of H2O2. Evidence for the reaction magnified image was found. The spectrum of O−2 is given with λmax = 240 nm and ϵ340 = 1900 ± 100 M−1 cm−1. No evidence was found for the existence of H2O+2. The recombination kinetics of the hydroperoxy radical are discussed. It was shown that O−3 has no absorption in the UV. The reaction of O−3 with H2O2 was shown to proceed via dissociation of O−3 into O−, and the product of the reaction was identified as O−2. No ozone is found in the decay of O−3.
Synthetic Peptides Related to Horse Heart Cytochrome C VI. Peptides Corresponding to Positions 85–104
Authors: Wolman Y. , Klausner Y. S. 
Published: November 2013

AbstractSynthesis is described of an eicosapeptide which corresponds to positions 85‐104 of the primary structure of horse heart Cytochrome C. The synthesis of the peptide L‐isoleucyl‐L‐lysyl‐L‐lysyl‐L‐lysyl‐L‐threonyl‐L‐glutamyl‐L‐arginyl‐L‐glutamyl‐L‐aspartyl‐L‐leucyl‐L‐isoleucyl‐L‐alanyl‐L‐tyrosyl‐L‐leucyl‐L‐lysyl‐L‐lysyl‐L‐alanyl‐L‐threonyl‐L‐asparaginyl‐L‐glutamic acid is described.
Kinetic Salt Effects and Structure of the Aqueous Solution
Authors: Indelli A. 
Published: November 2013

AbstractThe salt effects in many reactions between anions are compared with the predictions of the Brønsted‐Debye theory, and with the assumption of formation of reactive ion pairs; both approaches appear to be inadequate. Clear evidence is available (change of activation energy, effect of organic ions, effect of complex ions) that at least part of the salt effects is non‐electrostatic in nature, so that the introduction of appropriate structural parameters in a general electrostatic treatment is required for their explanation. The Debye‐Hückel theory cannot be used as a frame for the introduction of such parameters, but a more flexible and self‐consistent theory is required. Evidence is presented that the Mayer theory can interpret thermodynamic properties even in cases where the Debye‐Hückel theory fails, and a method is suggested whereby the Mayer theory is used to interpret the salt effect and to give a structural meaning to the empirical parameters which must be introduced.
Potential Practical Applications of Basic Research in Molecular Dynamics
Authors: Bernstein R.B. 
Published: November 2013

AbstractThe chemical technology of the future will require a deeper knowledge of fundamental molecular‐dynamical processes. It will no longer suffice to be able to systematize (and even calculate) static properties of simple molecules in equilibrium or to produce tables of Arrhenius kinetic parameters characterizing the rate constants of a host of elementary chemical reactions. In order to make significant gains, in the sense of “breakthrough technology”, an intimate knowledge of basic molecular dynamical behavior will be needed. Such insight is derivable from a new class of experiments at the atomic and molecular level and from new theoretical‐computational approaches to molecular‐dynamical problems. To illustrate these new requirements, and the potential practical applications of an improved understanding at the basic level, examples are presented in the areas of combustion and atmospheric pollution, atmospheric and ionospheric chemistry, synthetic applications of selective excitation, lasers in chemistry and chemical‐to‐radiation energy conversion.
Ionization Processes in Polar Solution of Tryptophan at 77° K
Authors: Moan J. 
Published: November 2013

AbstractThe triplet absorption spectrum of tryptophan in ethylene‐glycol/water glass at 77°K has been registered. It is demonstrated that light of wavelength 250 nm produces trapped electrons by a two‐photon process in this system. In both UV‐ and X‐ray‐induced ionization the probability that an ejected electron will recombine with its mother ion is around 0.5. Bleaching with visible light causes the trapped electrons to react with the solvent and there is also a considerable degree of retrapping. The retrapping becomes more probable when the temperature increases.