New massive supergravity multiplets

We present new off-shell formulations for the massive superspin-3/2 multiplet. In the massless limit, they reduce respectively to the old minimal (n=-1/3) and non-minimal ($n\neq -1/3, 0$) linearized formulations for 4D N=1 supergravity. Duality transformations, which relate the models constructed, are derived.Comment: 18 pages, LaTeX; v2: minor changes, references adde

Spin Factor in Path Integral Representation for Dirac Propagator in External Fields

We study the spin factor problem both in $3+1$ and $2+1$ dimensions which are essentially different for spin factor construction. Doing all Grassmann integrations in the corresponding path integral representations for Dirac propagator we get representations with spin factor in arbitrary external field. Thus, the propagator appears to be presented by means of bosonic path integral only. In $3+1$ dimensions we present a simple derivation of spin factor avoiding some unnecessary steps in the original brief letter (Gitman, Shvartsman, Phys. Lett. {\bf B318} (1993) 122) which themselves need some additional justification. In this way the meaning of the surprising possibility of complete integration over Grassmann variables gets clear. In $2+1$ dimensions the derivation of the spin factor is completely original. Then we use the representations with spin factor for calculations of the propagator in some configurations of external fields. Namely, in constant uniform electromagnetic field and in its combination with a plane wave field.Comment: 34 pages, LaTe

Thermal Effects on the Low Energy N=2 SUSY Yang-Mills Theory

Using the low energy effective action of the N=2 supersymmetric SU(2) Yang-Mills theory we calculate the free energy at finite temperature, both in the semiclassical region and in the dual monopole/dyon theory. In all regions the free energy depends on both the temperature T and the appropriate moduli parameter, and is thus minimized only for specific values of the moduli parameter, in contrast to the T=0 case where the energy vanishes all over the moduli space. Within the validity of perturbation theory, we find that the finite temperature Yang-Mills theory is stable only at definite points in the moduli space, i.e. for a specific value of the monopole/dyon mass or when the scalar field expectation value goes to infinity.Comment: 24 pages, Latex, uses axodra

On the scattering amplitude in the Aharonov-Bohm gauge field

A general expression for the scattering amplitude of nonrelativistic spinless particles in the Aharonov-Bohm gauge potential is obtained within the time independent formalism. The result is valid also in the backward and forward directions as well as for any choice of the boundary conditions on the wave function at the flux tube position.Comment: 18 pages, plain TE

A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5

Systemic lupus erythematosus (SLE) is the prototype autoimmune disease where genes regulated by type I interferon (IFN) are over-expressed and contribute to the disease pathogenesis. Because signal transducer and activator of transcription 4 (STAT4) plays a key role in the type I IFN receptor signaling, we performed a candidate gene study of a comprehensive set of single nucleotide polymorphism (SNPs) in STAT4 in Swedish patients with SLE. We found that 10 out of 53 analyzed SNPs in STAT4 were associated with SLE, with the strongest signal of association (P = 7.1 × 10−8) for two perfectly linked SNPs rs10181656 and rs7582694. The risk alleles of these 10 SNPs form a common risk haplotype for SLE (P = 1.7 × 10−5). According to conditional logistic regression analysis the SNP rs10181656 or rs7582694 accounts for all of the observed association signal. By quantitative analysis of the allelic expression of STAT4 we found that the risk allele of STAT4 was over-expressed in primary human cells of mesenchymal origin, but not in B-cells, and that the risk allele of STAT4 was over-expressed (P = 8.4 × 10−5) in cells carrying the risk haplotype for SLE compared with cells with a non-risk haplotype. The risk allele of the SNP rs7582694 in STAT4 correlated to production of anti-dsDNA (double-stranded DNA) antibodies and displayed a multiplicatively increased, 1.82-fold risk of SLE with two independent risk alleles of the IRF5 (interferon regulatory factor 5) gene

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.

Age at menarche is a marker of timing of puberty in females. It varies widely between individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes, cardiovascular disease, breast cancer and all-cause mortality. Studies of rare human disorders of puberty and animal models point to a complex hypothalamic-pituitary-hormonal regulation, but the mechanisms that determine pubertal timing and underlie its links to disease risk remain unclear. Here, using genome-wide and custom-genotyping arrays in up to 182,416 women of European descent from 57 studies, we found robust evidence (P < 5 × 10(-8)) for 123 signals at 106 genomic loci associated with age at menarche. Many loci were associated with other pubertal traits in both sexes, and there was substantial overlap with genes implicated in body mass index and various diseases, including rare disorders of puberty. Menarche signals were enriched in imprinted regions, with three loci (DLK1-WDR25, MKRN3-MAGEL2 and KCNK9) demonstrating parent-of-origin-specific associations concordant with known parental expression patterns. Pathway analyses implicated nuclear hormone receptors, particularly retinoic acid and γ-aminobutyric acid-B2 receptor signalling, among novel mechanisms that regulate pubertal timing in humans. Our findings suggest a genetic architecture involving at least hundreds of common variants in the coordinated timing of the pubertal transition

Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms

Coronary artery disease (CAD) is a leading cause of morbidity and mortality worldwide. Although 58 genomic regions have been associated with CAD thus far, most of the heritability is unexplained, indicating that additional susceptibility loci await identification. An efficient discovery strategy may be larger-scale evaluation of promising associations suggested by genome-wide association studies (GWAS). Hence, we genotyped 56,309 participants using a targeted gene array derived from earlier GWAS results and performed meta-analysis of results with 194,427 participants previously genotyped, totaling 88,192 CAD cases and 162,544 controls. We identified 25 new SNP-CAD associations (P &lt; 5 × 10(-8), in fixed-effects meta-analysis) from 15 genomic regions, including SNPs in or near genes involved in cellular adhesion, leukocyte migration and atherosclerosis (PECAM1, rs1867624), coagulation and inflammation (PROCR, rs867186 (p.Ser219Gly)) and vascular smooth muscle cell differentiation (LMOD1, rs2820315). Correlation of these regions with cell-type-specific gene expression and plasma protein levels sheds light on potential disease mechanisms

6D Supersymmetric Nonlinear Sigma-Models in 4D, N=1 Superspace

Using 4D, N=1 superfield techniques, a discussion of the 6D sigma-model possessing simple supersymmetry is given. Two such approaches are described. Foremost it is shown that the simplest and most transparent description arises by use of a doublet of chiral scalar superfields for each 6D hypermultiplet. A second description that is most directly related to projective superspace is also presented. The latter necessarily implies the use of one chiral superfield and one nonminimal scalar superfield for each 6D hypermultiplet. A separate study of models of this class, outside the context of projective superspace, is also undertaken.Comment: 35 pages, LaTeX. v3: some comments added, version to appear in JHE

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Most common human traits and diseases have a polygenic pattern of inheritance: DNA sequence variants at many genetic loci influence the phenotype. Genome-wide association (GWA) studies have identified more than 600 variants associated with human traits, but these typically explain small fractions of phenotypic variation, raising questions about the use of further studies. Here, using 183,727 individuals, we show that hundreds of genetic variants, in at least 180 loci, influence adult height, a highly heritable and classic polygenic trait. The large number of loci reveals patterns with important implications for genetic studies of common human diseases and traits. First, the 180 loci are not random, but instead are enriched for genes that are connected in biological pathways (P = 0.016) and that underlie skeletal growth defects (P < 0.001). Second, the likely causal gene is often located near the most strongly associated variant: in 13 of 21 loci containing a known skeletal growth gene, that gene was closest to the associated variant. Third, at least 19 loci have multiple independently associated variants, suggesting that allelic heterogeneity is a frequent feature of polygenic traits, that comprehensive explorations of already-discovered loci should discover additional variants and that an appreciable fraction of associated loci may have been identified. Fourth, associated variants are enriched for likely functional effects on genes, being over-represented among variants that alter amino-acid structure of proteins and expression levels of nearby genes. Our data explain approximately 10% of the phenotypic variation in height, and we estimate that unidentified common variants of similar effect sizes would increase this figure to approximately 16% of phenotypic variation (approximately 20% of heritable variation). Although additional approaches are needed to dissect the genetic architecture of polygenic human traits fully, our findings indicate that GWA studies can identify large numbers of loci that implicate biologically relevant genes and pathways.

Excitation and trapping of lower hybrid waves in striations

The theory of lower hybrid (LH) waves trapped in striations in warm ionospheric plasma in the three-dimensional case is presented. A specific mechanism of trapping associated with the linear transformation of waves is discussed. It is shown analytically that such trapping can take place in elongated plasma depletions with the frequencies below and above the lower hybrid resonance frequency of the ambient plasma. The theory is applied mainly to striations generated artificially in ionospheric modification experiments and partly to natural plasma depletions in the auroral upper ionosphere. Typical amplitudes and transverse scales of the trapped LH waves excited in ionospheric modification experiments are estimated. It is shown that such waves possibly can be detected by backscattering at oblique sounding in very high frequency (VHF) and ultra high frequency (UHF) ranges