Cosmological constraints from the SDSS luminous red galaxies

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Cosmological Constraints from the SDSS Luminous Red Galaxies

We measure the large-scale real-space power spectrum P(k) using luminous red galaxies (LRGs) in the Sloan Digital Sky Survey (SDSS) and use this measurement to sharpen constraints on cosmological parameters from the Wilkinson Microwave Anisotropy Probe (WMAP). We employ a matrix-based power spectrum estimation method using Pseudo-Karhunen-Loeve eigenmodes, producing uncorrelated minimum-variance measurements in 20 k-bands of both the clustering power and its anisotropy due to redshift-space distortions, with narrow and well-behaved window functions in the range 0.01h/Mpc < k < 0.2h/Mpc. Results from the LRG and main galaxy samples are consistent, with the former providing higher signal-to-noise. Our results are robust to omitting angular and radial density fluctuations and are consistent between different parts of the sky. They provide a striking confirmation of the predicted large-scale LCDM power spectrum. Combining only SDSS LRG and WMAP data places robust constraints on many cosmological parameters that complement prior analyses of multiple data sets. The LRGs provide independent cross-checks on Om and the baryon fraction in good agreement with WMAP. Within the context of flat LCDM models, our LRG measurements complement WMAP by sharpening the constraints on the matter density, the neutrino density and the tensor amplitude by about a factor of two, giving Omega_m=0.24+-0.02 (1 sigma), sum m_nu < 0.9 eV (95%) and r<0.3 (95%). Baryon oscillations are clearly detected and provide a robust measurement of the comoving distance to the median survey redshift z=0.35 independent of curvature and dark energy properties. Within the LCDM framework, our power spectrum measurement improves the evidence for spatial flatness, sharpening the curvature constraint Omega_tot=1.05+-0.05 from WMAP alone to Omega_tot=1.003+-0.010. Assuming Omega_tot=1, the equation of state parameter is constrained to w=-0.94+-0.09, indicating the potential for more ambitious future LRG measurements to provide precision tests of the nature of dark energy. All these constraints are essentially independent of scales k>0.1h/Mpc and associated nonlinear complications, yet agree well with more aggressive published analyses where nonlinear modeling is crucial.Comment: Matches accepted PRD version. SDSS data, likelihood code, Markov chains and ppt figures available at http://space.mit.edu/home/tegmark/sdss.html 36 journal pages, 25 figs. CosmoMC plugin at http://cosmologist.info/cosmomc

Copy-number variation of the glucose transporter gene SLC2A3 and congenital heart defects in the 22q11.2 deletion syndrome

The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation is highly variable. Approximately 65% of individuals with 22q11DS have a congenital heart defect (CHD), mostly of the conotruncal type, and/or an aortic arch defect. The etiology of this phenotypic variability is not currently known. We hypothesized that copy-number variants (CNVs) outside the 22q11.2 deleted region might increase the risk of being born with a CHD in this sensitized population. Genotyping with Affymetrix SNP Array 6.0 was performed on two groups of subjects with 22q11DS separated by time of ascertainment and processing. CNV analysis was completed on a total of 949 subjects (cohort 1, n = 562; cohort 2, n = 387), 603 with CHDs (cohort 1, n = 363; cohort 2, n = 240) and 346 with normal cardiac anatomy (cohort 1, n = 199; cohort 2, n = 147). Our analysis revealed that a duplication of SLC2A3 was the most frequent CNV identified in the first cohort. It was present in 18 subjects with CHDs and 1 subject without (p = 3.12 × 10-3, two-tailed Fisher's exact test). In the second cohort, the SLC2A3 duplication was also significantly enriched in subjects with CHDs (p = 3.30 × 10-2, two-tailed Fisher's exact test). The SLC2A3 duplication was the most frequent CNV detected and the only significant finding in our combined analysis (p = 2.68 × 10-4, two-tailed Fisher's exact test), indicating that the SLC2A3 duplication might serve as a genetic modifier of CHDs and/or aortic arch anomalies in individuals with 22q11DS

Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation is highly variable. Approximately 65% of individuals with 22q11DS have a congenital heart defect (CHD), mostly of the conotruncal type, and/or an aortic arch defect. The etiology of this phenotypic variability is not currently known. We hypothesized that copy-number variants (CNVs) outside the 22q11.2 deleted region might increase the risk of being born with a CHD in this sensitized population. Genotyping with Affymetrix SNP Array 6.0 was performed on two groups of subjects with 22q11DS separated by time of ascertainment and processing. CNV analysis was completed on a total of 949 subjects (cohort 1, n = 562; cohort 2, n = 387), 603 with CHDs (cohort 1, n = 363; cohort 2, n = 240) and 346 with normal cardiac anatomy (cohort 1, n = 199; cohort 2, n = 147). Our analysis revealed that a duplication of SLC2A3 was the most frequent CNV identified in the first cohort. It was present in 18 subjects with CHDs and 1 subject without (p = 3.12 × 10(-3), two-tailed Fisher's exact test). In the second cohort, the SLC2A3 duplication was also significantly enriched in subjects with CHDs (p = 3.30 × 10(-2), two-tailed Fisher's exact test). The SLC2A3 duplication was the most frequent CNV detected and the only significant finding in our combined analysis (p = 2.68 × 10(-4), two-tailed Fisher's exact test), indicating that the SLC2A3 duplication might serve as a genetic modifier of CHDs and/or aortic arch anomalies in individuals with 22q11DS.publisher: Elsevier articletitle: Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome journaltitle: The American Journal of Human Genetics articlelink: http://dx.doi.org/10.1016/j.ajhg.2015.03.007 content_type: article copyright: Copyright © 2015 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.status: publishe

Cosmological constraints from the SDSS luminous red galaxies

We measure the large-scale real-space power spectrum P(k) using luminous red galaxies (LRGs) in the Sloan Digital Sky Survey (SDSS) and use this measurement to sharpen constraints on cosmological parameters from the Wilkinson Microwave Anisotropy Probe (WMAP). We employ a matrix-based power spectrum estimation method using Pseudo-Karhunen-Loeve eigenmodes, producing uncorrelated minimum-variance measurements in 20 k-bands of both the clustering power and its anisotropy due to redshift-space distortions, with narrow and well-behaved window functions in the range 0.01h/Mpc < k < 0.2h/Mpc. Results from the LRG and main galaxy samples are consistent, with the former providing higher signal-to-noise. Our results are robust to omitting angular and radial density fluctuations and are consistent between different parts of the sky. They provide a striking confirmation of the predicted large-scale LCDM power spectrum. Combining only SDSS LRG and WMAP data places robust constraints on many cosmological parameters that complement prior analyses of multiple data sets. The LRGs provide independent cross-checks on Om and the baryon fraction in good agreement with WMAP. Within the context of flat LCDM models, our LRG measurements complement WMAP by sharpening the constraints on the matter density, the neutrino density and the tensor amplitude by about a factor of two, giving Omega_m=0.24+-0.02 (1 sigma), sum m_nu 0.1h/Mpc and associated nonlinear complications, yet agree well with more aggressive published analyses where nonlinear modeling is crucial.Astronom