Resistance Noise Scaling in a Dilute Two-Dimensional Hole System in GaAs

We have measured the resistance noise of a two-dimensional (2D)hole system in a high mobility GaAs quantum well, around the 2D metal-insulator transition (MIT) at zero magnetic field. The normalized noise power $S_R/R^2$ increases strongly when the hole density p_s is decreased, increases slightly with temperature (T) at the largest densities, and decreases strongly with T at low p_s. The noise scales with the resistance, $S_R/R^2 \sim R^{2.4}$, as for a second order phase transition such as a percolation transition. The p_s dependence of the conductivity is consistent with a critical behavior for such a transition, near a density p* which is lower than the observed MIT critical density p_c.Comment: 4 pages, 4 figures, to be published in Phys. Rev. Let

An analysis of growth, differentiation and apoptosis genes with risk of renal cancer

We conducted a case-control study of renal cancer (987 cases and 1298 controls) in Central and Eastern Europe and analyzed genomic DNA for 319 tagging single-nucleotide polymorphisms (SNPs) in 21 genes involved in cellular growth, differentiation and apoptosis using an Illumina Oligo Pool All (OPA). A haplotype-based method (sliding window analysis of consecutive SNPs) was used to identify chromosome regions of interest that remained significant at a false discovery rate of 10%. Subsequently, risk estimates were generated for regions with a high level of signal and individual SNPs by unconditional logistic regression adjusting for age, gender and study center. Three regions containing genes associated with renal cancer were identified: caspase 1/5/4/ 12(CASP 1/5/4/12), epidermal growth factor receptor (EGFR), and insulin-like growth factor binding protein-3 (IGFBP3). We observed that individuals with CASP1/5/4/12 haplotype (spanning area upstream of CASP1 through exon 2 of CASP5) GGGCTCAGT were at higher risk of renal cancer compared to individuals with the most common haplotype (OR:1.40, 95% CI:1.10-1.78, p-value = 0.007). Analysis of EGFR revealed three strong signals within intron 1, particularly a region centered around rs759158 with a global p = 0.006 (GGG: OR:1.26, 95% CI:1.04-1.53 and ATG: OR:1.55, 95% CI:1.14-2.11). A region in IGFBP3 was also associated with increased risk (global p = 0.04). In addition, the number of statistically significant (p-value 0.05) SNP associations observed within these three genes was higher than would be expected by chance on a gene level. To our knowledge, this is the first study to evaluate these genes in relation to renal cancer and there is need to replicate and extend our findings. The specific regions associated with risk may have particular relevance for gene function and/or carcinogenesis. In conclusion, our evaluation has identified common genetic variants in CASP1, CASP5, EGFR, and IGFBP3 that could be associated with renal cancer risk

Association of Genetic Variants of Melatonin Receptor 1B with Gestational Plasma Glucose Level and Risk of Glucose Intolerance in Pregnant Chinese Women

BACKGROUND: This study aimed to explore the association of MTNR1B genetic variants with gestational plasma glucose homeostasis in pregnant Chinese women. METHODS: A total of 1,985 pregnant Han Chinese women were recruited and evaluated for gestational glucose tolerance status with a two-step approach. The four MTNR1B variants rs10830963, rs1387153, rs1447352, and rs2166706 which had been reported to associate with glucose levels in general non-pregnant populations, were genotyped in these women. Using an additive model adjusted for age and body mass index (BMI), association of these variants with gestational fasting and postprandial plasma glucose (FPG and PPG) levels were analyzed by multiple linear regression; relative risk of developing gestational glucose intolerance was calculated by logistic regression. Hardy-Weinberg Equilibrium was tested by Chi-square and linkage disequilibrium (LD) between these variants was estimated by measures of D' and r(2). RESULTS: In the pregnant Chinese women, the MTNR1B variant rs10830963, rs1387153, rs2166706 and rs1447352 were shown to be associated with the increased 1 hour PPG level (p=8.04 × 10(-10), 5.49 × 10(-6), 1.89 × 10(-5) and 0.02, respectively). The alleles were also shown to be associated with gestational glucose intolerance with odds ratios (OR) of 1.64 (p=8.03 × 10(-11)), 1.43 (p=1.94 × 10(-6)), 1.38 (p=1.63 × 10(-5)) and 1.24 (p=0.007), respectively. MTNR1B rs1387153, rs2166706 were shown to be associated with gestational FPG levels (p=0.04). Our data also suggested that, the LD pattern of these variants in the studied women conformed to that in the general populations: rs1387153 and rs2166706 were in high LD, they linked moderately with rs10830963, but might not linked with rs1447352;rs10830963 might not link with rs1447352, either. In addition, the MTNR1B variants were not found to be associated with any other traits tested. CONCLUSIONS: The MTNR1B is likely to be involved in the regulation of glucose homeostasis during pregnancy

Comparison and assessment of coarse resolution land cover maps for Northern Eurasia

Information on land cover at global and continental scales is critical for addressing a range of ecological, socioeconomic and policy questions. Global land cover maps have evolved rapidly in the last decade, but efforts to evaluate map uncertainties have been limited, especially in remote areas like Northern Eurasia. Northern Eurasia comprises a particularly diverse region covering a wide range of climate zones and ecosystems: from arctic deserts, tundra, boreal forest, and wetlands, to semi-arid steppes and the deserts of Central Asia. In this study, we assessed four of the most recent global land cover datasets: GLC-2000, GLOBCOVER, and the MODIS Collection 4 and Collection 5 Land Cover Product using cross-comparison analyses and Landsat-based reference maps distributed throughout the region. A consistent comparison of these maps was challenging because of disparities in class definitions, thematic detail, and spatial resolution. We found that the choice of sampling unit significantly influenced accuracy estimates, which indicates that comparisons of reported global map accuracies might be misleading. To minimize classification ambiguities, we devised a generalized legend based on dominant life form types (LFT) (tree, shrub, and herbaceous vegetation, barren land and water). LFT served as a necessary common denominator in the analyzed map legends, but significantly decreased the thematic detail. We found significant differences in the spatial representation of LFT's between global maps with high spatial agreement (above 0.8) concentrated in the forest belt of Northern Eurasia and low agreement (below 0.5) concentrated in the northern taiga-tundra zone, and the southern dry lands. Total pixel-level agreement between global maps and six test sites was moderate to fair (overall agreement: 0.67-0.74, Kappa: 0.41-0.52) and increased by 0.09-0.45 when only homogenous land cover types were analyzed. Low map accuracies at our tundra test site confirmed regional disagreements and difficulties of current global maps in accurately mapping shrub and herbaceous vegetation types at the biome borders of Northern Eurasia. In comparison, tree dominated vegetation classes in the forest belt of the region were accurately mapped, but were slightly overestimated (10%-20%), in all maps. Low agreement of global maps in the northern and southern vegetation transition zones of Northern Eurasia is likely to have important implications for global change research, as those areas are vulnerable to both climate and socio-economic changes. (C) 2011 Elsevier Inc. All rights reserved.Keywords: Land cover, MODIS, Eurasia, Global, Validation, GLC-2000, LCCS, GLOBCOVERKeywords: Land cover, MODIS, Eurasia, Global, Validation, GLC-2000, LCCS, GLOBCOVE

On the violation of the Fermi-liquid picture in two-dimensional systems owing to the Van-Hove singularities

We consider the two-dimensional t-t' Hubbard model with the Fermi level being close to the van Hove singularities. The phase diagram of the model is discussed. In a broad energy region the self-energy at the singularity points has a nearly-linear energy dependence. The corresponding correction to the density of states is proportional to ln^3(e). Both real- and imaginary part of the self-energy increase near the quantum phase transition into magnetically ordered or superconducting phase which implies violation of the Fermi-liquid behavior. The application of the results to cuprates is discussed.Comment: 16 pages, RevTeX, 5 figures; The errors of the published version (PRB 64, 205105, 2001) are correcte

Pathway Analysis for Genome-Wide Association Study of Basal Cell Carcinoma of the Skin

Recently, a pathway-based approach has been developed to evaluate the cumulative contribution of the functionally related genes for genome-wide association studies (GWASs), which may help utilize GWAS data to a greater extent.In this study, we applied this approach for the GWAS of basal cell carcinoma (BCC) of the skin. We first conducted the BCC GWAS among 1,797 BCC cases and 5,197 controls in Caucasians with 740,760 genotyped SNPs. 115,688 SNPs were grouped into gene transcripts within 20 kb in distance and then into 174 Kyoto Encyclopedia of Genes and Genomes pathways, 205 BioCarta pathways, as well as two positive control gene sets (pigmentation gene set and BCC risk gene set). The association of each pathway with BCC risk was evaluated using the weighted Kolmogorov-Smirnov test. One thousand permutations were conducted to assess the significance.Both of the positive control gene sets reached pathway p-values<0.05. Four other pathways were also significantly associated with BCC risk: the heparan sulfate biosynthesis pathway (p  =  0.007, false discovery rate, FDR  =  0.35), the mCalpain pathway (p  =  0.002, FDR  =  0.12), the Rho cell motility signaling pathway (p  =  0.011, FDR  =  0.30), and the nitric oxide pathway (p  =  0.022, FDR  =  0.42).We identified four pathways associated with BCC risk, which may offer new insights into the etiology of BCC upon further validation, and this approach may help identify potential biological pathways that might be missed by the standard GWAS approach

Rare Copy Number Variants Observed in Hereditary Breast Cancer Cases Disrupt Genes in Estrogen Signaling and TP53 Tumor Suppression Network

Breast cancer is the most common cancer in women in developed countries, and the contribution of genetic susceptibility to breast cancer development has been well-recognized. However, a great proportion of these hereditary predisposing factors still remain unidentified. To examine the contribution of rare copy number variants (CNVs) in breast cancer predisposition, high-resolution genome-wide scans were performed on genomic DNA of 103 BRCA1, BRCA2, and PALB2 mutation negative familial breast cancer cases and 128 geographically matched healthy female controls; for replication an independent cohort of 75 similarly mutation negative young breast cancer patients was used. All observed rare variants were confirmed by independent methods. The studied breast cancer cases showed a consistent increase in the frequency of rare CNVs when compared to controls. Furthermore, the biological networks of the disrupted genes differed between the two groups. In familial cases the observed mutations disrupted genes, which were significantly overrepresented in cellular functions related to maintenance of genomic integrity, including DNA double-strand break repair (P = 0.0211). Biological network analysis in the two independent breast cancer cohorts showed that the disrupted genes were closely related to estrogen signaling and TP53 centered tumor suppressor network. These results suggest that rare CNVs represent an alternative source of genetic variation influencing hereditary risk for breast cancer