Genetic analysis of maximum cigarette-use phenotypes

BACKGROUND: Using the Framingham Heart Study data set provided for Genetic Analysis Workshop 13, we defined the cigarette-use phenotype M for smokers to be the maximum number of cigarettes-per-day (MAXCIG) reported over the longitudinal course of the study. Adjustments were made for the significant covariates of gender and year of birth, and sib-pair based linkage analysis was performed. RESULTS: The primary analyses, in which individuals with MAXCIG = 0 were considered to have missing phenotype, resulted in modest linkage evidence, with LOD scores over 1 on chromosomes 5, 9, 13, 14, and 22. CONCLUSIONS: While the results reported here do not indicate definitive evidence for linkage to specific chromosomal regions, future studies may find it useful to include direct assessments of maximum and quantitative cigarette use. In defining and analyzing quantitative or "maximum use" phenotypes, the choice of how to handle individuals with MAXCIG = 0, or alternatively, individuals who are substance-naive, is a crucial one for genetic studies of nicotine and other substance use. In this study, the linkage results vary greatly depending on whether or not these "unexposed" individuals are included in the analyses

Genetic analysis of the maximum drinks phenotype

Using data provided by the Collaborative Study on the Genetics of Alcoholism we studied the genetics of a quantitative trait: the maximum number of drinks consumed in a 24-hour period. A two-stage method was used. First, linkage analysis was performed, followed by association analysis in regions where linkage was detected. Additionally, the extent of linkage disequilibrium among single-nucleotide polymorphisms (SNP) associated with the phenotype was assessed. Linkage to chromosomes 2 and 7 was detected, and follow-up association analysis found multiple trait-associated SNPs in the chromosome 7 linkage region. Chromosome 4, which has been implicated in previous studies of the maximum drinks phenotype, did not pass our threshold for linkage evidence in stage 1, but secondary analyses of this chromosome indicated modest evidence for both linkage and association. The evidence suggests that chromosome 7 may harbor an additional locus influencing the maximum drinks consumption phenotype

Halogen bonding stabilizes a cis-azobenzene derivative in the solid state: A crystallographic study

Crystals of trans- and cis-isomers of a fluorinated azobenzene derivative have been prepared and characterized by single-crystal X-ray diffraction. The presence of F atoms on the aromatic core of the azobenzene increases the lifetime of the metastable cis-isomer, allowing single crystals of the cis-azobenzene to be grown. Structural analysis on the cis-azobenzene, complemented with density functional theory calculations, highlights the active role of the halogen-bond contact (N...I synthon) in promoting the stabilization of the cis-isomer. The presence of a long aliphatic chain on the azobenzene unit induces a phase segregation that stabilizes the molecular arrangement for both the trans- and cis-isomers. Due to the rarity of cis-azobenzene crystal structures in the literature, our paper makes a step towards understanding the role of non-covalent interactions in driving the packing of metastable azobenzene isomers. This is expected to be important in the future rational design of solid-state, photoresponsive materials based on halogen bonding. We show by single-crystal X-ray diffraction studies and computational analysis that halogen bonding can stabilize a metastable cis-azobenzene derivative in the solid state

Coordination networks incorporating halogen-bond donor sites and azobenzene groups

Two Zn coordination networks, [Zn(1)(Py)2]2(2-propanol)n (3) and [Zn(1)2(Bipy)2](DMF)2n (4), incorporating halogen-bond (XB) donor sites and azobenzene groups have been synthesized and fully characterized. Obtaining 3 and 4 confirms that it is possible to use a ligand wherein its coordination bond acceptor sites and XB donor sites are on the same molecular scaffold (i.e., an aromatic ring) without interfering with each other. We demonstrate that XBs play a fundamental role in the architectures and properties of the obtained coordination networks. In 3, XBs promote the formation of 2D supramolecular layers, which, by overlapping each other, allow the incorporation of 2-propanol as a guest molecule. In 4, XBs support the connection of the layers and are essential to firmly pin DMF solvent molecules through I⋯O contacts, thus increasing the stability of the solvated systems

Effect of Al doping on the optical phonon spectrum in Mg(1-x)Al(x)B(2)

Raman and infrared absorption spectra of Mg(1-x)Al(x)B(2) have been collected for 0<x<0.5 in the spectral range of optical phonons. The x-dependence of the peak frequency, the width and the intensity of the observed Raman lines has been carefully analized. A peculiar x-dependence of the optical modes is pointed out for two different Al doping ranges. In particular the onset of the high-doping structural phase previously observed in diffraction measurements is marked by the appearence of new spectral components at high frequencies. A connection between the whole of our results and the observed suppression of superconductivity in the high doping region is established

Halogen bonding enhances nonlinear optical response in poled supramolecular polymers

We demonstrate that halogen bonding strongly enhances the nonlinear optical response of poled supramolecular polymer systems. We compare three nonlinear optical chromophores with similar electronic structures but different bond-donating units, and show that both the type and the strength of the noncovalent interaction between the chromophores and the polymer matrix play their own distinctive roles in the optical nonlinearity of the systems

Third trimester ultrasound soft-tissue measurements accurately predicts macrosomia

OBJECTIVE: To evaluate the accuracy of sonographic measurements of fetal soft tissue in the prediction of macrosomia. METHODS: Electronic databases were searched from their inception until September 2015 with no limit for language. We included only studies assessing the accuracy of sonographic measurements of fetal soft tissue in the abdomen or thigh in the prediction of macrosomia  ≥34 weeks of gestation. The primary outcome was the accuracy of sonographic measurements of fetal soft tissue in the prediction of macrosomia. We generated the forest plot for the pooled sensitivity and specificity with 95% confidence interval (CI). Additionally, summary receiver-operating characteristics (ROC) curves were plotted and the area under the curve (AUC) was also computed to evaluate the overall performance of the diagnostic test accuracy. RESULTS: Three studies, including 287 singleton gestations, were analyzed. The pooled sensitivity of sonographic measurements of abdominal or thigh fetal soft tissue in the prediction of macrosomia was 80% (95% CI: 66-89%) and the pooled specificity was 95% (95% CI: 91-97%). The AUC for diagnostic accuracy of sonographic measurements of fetal soft tissue in the prediction of macrosomia was 0.92 and suggested high diagnostic accuracy. CONCLUSIONS: Third-trimester sonographic measurements of fetal soft tissue after 34 weeks may help to detect macrosomia with a high degree of accuracy. The pooled detection rate was 80%. A standardization of measurements criteria, reproducibility, building reference charts of fetal subcutaneous tissue and large studies to assess the optimal cutoff of fetal adipose thickness are necessary before the introduction of fetal soft-tissue markers in the clinical practice

Ectopic expression of the HLXB9 gene is associated with an altered nuclear position in t(7;12) leukaemias

This article is available open access through the publisher’s website at the link below. Copyright @ 2009 Macmillan Publishers Ltd.No abstract available (Letter to the editor).The Leukaemia Research Fun