Overlap of genetic loci for central serous chorioretinopathy with age-related macular degeneration

IMPORTANCE Central serous chorioretinopathy (CSC) is a serous maculopathy of unknown etiology. Two of 3 previously reported CSC genetic risk loci are also associated with AMD. Improved understanding of CSC genetics may broaden our understanding of this genetic overlap and unveil mechanisms in both diseases.OBJECTIVE To identify novel genetic risk factors for CSC and compare genetic risk factors for CSC and AMD.DESIGN, SETTING, AND PARTICIPANTS Using International Classification of Diseases, Ninth (ICD-9) and Tenth (ICD-10) Revision code-based inclusion and exclusion criteria, patients with CSC and controls were identified in both the FinnGen study and the Estonian Biobank (EstBB). Also included in ameta-analysis were previously reported patients with chronic CSC and controls. Data were analyzed from March 1 to September 31, 2022.MAIN OUTCOMES AND MEASURES Genome-wide association studies (GWASs) were performed in the biobank-based cohorts followed by ameta-analysis of all cohorts. The expression of genes prioritized by the polygenic priority score and nearest-gene methods were assessed in cultured choroidal endothelial cells and public ocular single-cell RNA sequencing data sets. The predictive utility of polygenic scores (PGSs) for CSC and AMD were evaluated in the FinnGen study.RESULTS A total of 1176 patients with CSC and 526 787 controls (312 162 female [59.3%]) were included in this analysis: 552 patients with CSC and 343 461 controls were identified in the FinnGen study, 103 patients with CSC and 178 573 controls were identified in the EstBB, and 521 patients with chronic CSC and 3577 controls were included in ameta-analysis. Two previously reported CSC risk loci were replicated (near CFH and GATA5) and 3 novel loci were identified (near CD34/46, NOTCH4, and PREX1). The CFH and NOTCH4 loci were associated with AMD but in the opposite direction. Prioritized genes showed increased expression in cultured choroidal endothelial cells compared with other genes in the loci (median [IQR] of log 2 [counts per million], 7.3 [0.6] vs 4.7 [3.7]; P =.004) and were differentially expressed in choroidal vascular endothelial cells in single-cell RNA sequencing data (mean [SD] fold change, 2.05 [0.38] compared with other cell types; P < 7.1 x 10(-20)). A PGS for AMD was predictive of reduced CSC risk (odds ratio, 0.76; 95% CI, 0.70-0.83 per +1 SD in AMD-PGS; P = 7.4 x 10(-10)). This association may have been mediated by loci containing complement genes.CONCLUSIONS AND RELEVANCE In this 3-cohort genetic association study, 5 genetic risk loci for CSC were identified, highlighting a likely role for genes involved in choroidal vascular function and complement regulation. Results suggest that polygenic AMD risk was associated with reduced risk of CSC and that this genetic overlap was largely due to loci containing complement genes.Ophthalmic researc

A Measurement of the CMB Temperature Power Spectrum and Constraints on Cosmology from the SPT-3G 2018 TT/TE/EE Data Set

We present a sample-variance-limited measurement of the temperature power spectrum ($TT$) of the cosmic microwave background (CMB) using observations of a $\sim\! 1500 \,\mathrm{deg}^2$ field made by SPT-3G in 2018. We report multifrequency power spectrum measurements at 95, 150, and 220GHz covering the angular multipole range $750 \leq \ell < 3000$. We combine this $TT$ measurement with the published polarization power spectrum measurements from the 2018 observing season and update their associated covariance matrix to complete the SPT-3G 2018 $TT/TE/EE$ data set. This is the first analysis to present cosmological constraints from SPT $TT$, $TE$, and $EE$ power spectrum measurements jointly. We blind the cosmological results and subject the data set to a series of consistency tests at the power spectrum and parameter level. We find excellent agreement between frequencies and spectrum types and our results are robust to the modeling of astrophysical foregrounds. We report results for $\Lambda$CDM and a series of extensions, drawing on the following parameters: the amplitude of the gravitational lensing effect on primary power spectra $A_\mathrm{L}$, the effective number of neutrino species $N_{\mathrm{eff}}$, the primordial helium abundance $Y_{\mathrm{P}}$, and the baryon clumping factor due to primordial magnetic fields $b$. We find that the SPT-3G 2018 $T/TE/EE$ data are well fit by $\Lambda$CDM with a probability-to-exceed of $15\%$. For $\Lambda$CDM, we constrain the expansion rate today to $H_0 = 68.3 \pm 1.5\,\mathrm{km\,s^{-1}\,Mpc^{-1}}$ and the combined structure growth parameter to $S_8 = 0.797 \pm 0.042$. The SPT-based results are effectively independent of Planck, and the cosmological parameter constraints from either data set are within $<1\,\sigma$ of each other. (abridged

Testing the Λ\mathbf{\Lambda}CDM Cosmological Model with Forthcoming Measurements of the Cosmic Microwave Background with SPT-3G

International audienceWe forecast constraints on cosmological parameters enabled by three surveys conducted with SPT-3G, the third-generation camera on the South Pole Telescope. The surveys cover separate regions of 1500, 2650, and 6000 ${\rm deg}^{2}$ to different depths, in total observing 25% of the sky. These regions will be measured to white noise levels of roughly 2.5, 9, and 12 $\mu{\rm K-arcmin}$, respectively, in CMB temperature units at 150 GHz by the end of 2024. The survey also includes measurements at 95 and 220 GHz, which have noise levels a factor of ~1.2 and 3.5 times higher than 150 GHz, respectively, with each band having a polarization noise level ~$\sqrt{\text{2}}$ times higher than the temperature noise. We use a novel approach to obtain the covariance matrices for jointly and optimally estimated gravitational lensing potential bandpowers and unlensed CMB temperature and polarization bandpowers. We demonstrate the ability to test the $\Lambda{\rm CDM}$ model via the consistency of cosmological parameters constrained independently from SPT-3G and Planck data, and consider the improvement in constraints on $\Lambda{\rm CDM}$ extension parameters from a joint analysis of SPT-3G and Planck data. The $\Lambda{\rm CDM}$ cosmological parameters are typically constrained with uncertainties up to ~2 times smaller with SPT-3G data, compared to Planck, with the two data sets measuring significantly different angular scales and polarization levels, providing additional tests of the standard cosmological model

First Constraints on the Epoch of Reionization Using the non-Gaussianity of the Kinematic Sunyaev-Zel'dovich Effect from the South Pole Telescope and {\it Herschel}-SPIRE Observations

International audienceWe report results from an analysis aimed at detecting the trispectrum of the kinematic Sunyaev-Zel'dovich (kSZ) effect by combining data from the South Pole Telescope (SPT) and {\it Herschel}-SPIRE experiments over a 100 ${\rm deg}^{2}$ field. The SPT observations combine data from the previous and current surveys, namely SPTpol and SPT-3G, to achieve depths of 4.5, 3, and 16 $\mu {\rm K-arcmin}$ in bands centered at 95, 150, and 220 GHz. For SPIRE, we include data from the 600 and 857 GHz bands. We reconstruct the velocity-induced large-scale correlation of the small-scale kSZ signal with a quadratic estimator that uses two cosmic microwave background (CMB) temperature maps, constructed by optimally combining data from all the frequency bands. We reject the null hypothesis of a zero trispectrum at $10.3\sigma$ level. However, the measured trispectrum contains contributions from both the kSZ and other undesired components, such as CMB lensing and astrophysical foregrounds, with kSZ being sub-dominant. We use the \textsc{Agora} simulations to estimate the expected signal from CMB lensing and astrophysical foregrounds. After accounting for the contributions from CMB lensing and foreground signals, we do not detect an excess kSZ-only trispectrum and use this non-detection to set constraints on reionization. By applying a prior based on observations of the Gunn-Peterson trough, we obtain an upper limit on the duration of reionization of $\Delta z_{\rm re, 50} < 4.5$ (95% C.L). We find these constraints are fairly robust to foregrounds assumptions. This trispectrum measurement is independent of, but consistent with, {\it Planck}'s optical depth measurement. This result is the first constraint on the epoch of reionization using the non-Gaussian nature of the kSZ signal

Searching for axion-like time-dependent cosmic birefringence with SPT-3G

Ultralight axion-like particles (ALPs) are compelling dark matter candidates because of their potential to resolve small-scale discrepancies between $\Lambda$CDM predictions and cosmological observations. Axion-photon coupling induces a polarization rotation in linearly polarized photons traveling through an ALP field; thus, as the local ALP dark matter field oscillates in time, distant static polarized sources will appear to oscillate with a frequency proportional to the ALP mass. We use observations of the cosmic microwave background from SPT-3G, the current receiver on the South Pole Telescope, to set upper limits on the value of the axion-photon coupling constant $g_{\phi\gamma}$ over the approximate mass range $10^{-22} - 10^{-19}$ eV, corresponding to oscillation periods from 12 hours to 100 days. For periods between 1 and 100 days ($4.7 \times 10^{-22} \text{ eV} \leq m_\phi \leq 4.7 \times 10^{-20} \text{ eV}$), where the limit is approximately constant, we set a median 95% C.L. upper limit on the amplitude of on-sky polarization rotation of 0.071 deg. Assuming that dark matter comprises a single ALP species with a local dark matter density of $0.3 \text{ GeV/cm}^3$, this corresponds to $g_{\phi\gamma} < 1.18 \times 10^{-12}\text{ GeV}^{-1} \times \left( \frac{m_{\phi}}{1.0 \times 10^{-21} \text{ eV}} \right)$. These new limits represent an improvement over the previous strongest limits set using the same effect by a factor of ~3.8

Particle physics with the cosmic microwave background with SPT-3G

The cosmic microwave background (CMB) encodes information about the content and evolution of the universe. The presence of light, weakly interacting particles impacts the expansion history of the early universe, which alters the temperature and polarization anisotropies of the CMB. In this way, current measurements of the CMB place interesting constraints on the neutrino energy density and mass, as well as on the abundance of other possible light relativistic particle species. We present the status of an on-going 1500 sq. deg. survey with the SPT-3G receiver, a new mm-wavelength camera on the 10-m diameter South Pole Telescope (SPT). The SPT-3G camera consists of 16,000 superconducting transition edge sensors, a 10x increase over the previous generation camera, which allows it to map the CMB with an unprecedented combination of sensitivity and angular resolution. We highlight projected constraints on the abundance of sterile neutrinos and the sum of the neutrino masses for the SPT-3G survey, which could help determine the neutrino mass hierarchy...

A Measurement of Gravitational Lensing of the Cosmic Microwave Background Using SPT-3G 2018 Data

International audienceWe present a measurement of gravitational lensing over 1500 deg$^2$ of the Southern sky using SPT-3G temperature data at 95 and 150 GHz taken in 2018. The lensing amplitude relative to a fiducial Planck 2018 $\Lambda$CDM cosmology is found to be $1.020\pm0.060$, excluding instrumental and astrophysical systematic uncertainties. We conduct extensive systematic and null tests to check the robustness of the lensing measurements, and report a minimum-variance combined lensing power spectrum over angular multipoles of $50<L<2000$, which we use to constrain cosmological models. When analyzed alone and jointly with primary cosmic microwave background (CMB) spectra within the $\Lambda$CDM model, our lensing amplitude measurements are consistent with measurements from SPT-SZ, SPTpol, ACT, and Planck. Incorporating loose priors on the baryon density and other parameters including uncertainties on a foreground bias template, we obtain a $1\sigma$ constraint on $\sigma_8 \Omega_{\rm m}^{0.25}=0.595 \pm 0.026$ using the SPT-3G 2018 lensing data alone, where $\sigma_8$ is a common measure of the amplitude of structure today and $\Omega_{\rm m}$ is the matter density parameter. Combining SPT-3G 2018 lensing measurements with baryon acoustic oscillation (BAO) data, we derive parameter constraints of $\sigma_8 = 0.810 \pm 0.033$, $S_8 \equiv \sigma_8(\Omega_{\rm m}/0.3)^{0.5}= 0.836 \pm 0.039$, and Hubble constant $H_0 =68.8^{+1.3}_{-1.6}$ km s$^{-1}$ Mpc$^{-1}$. Using CMB anisotropy and lensing measurements from SPT-3G only, we provide independent constraints on the spatial curvature of $\Omega_{K} = 0.014^{+0.023}_{-0.026}$ (95% C.L.) and the dark energy density of $\Omega_\Lambda = 0.722^{+0.031}_{-0.026}$ (68% C.L.). When combining SPT-3G lensing data with SPT-3G CMB anisotropy and BAO data, we find an upper limit on the sum of the neutrino masses of $\sum m_{\nu}< 0.30$ eV (95% C.L.)

Mass calibration of DES Year-3 clusters via SPT-3G CMB cluster lensing

International audienceWe measure the stacked lensing signal in the direction of galaxy clusters in the Dark Energy Survey Year 3 (DES Y3) redMaPPer sample, using cosmic microwave background (CMB) temperature data from SPT-3G, the third-generation CMB camera on the South Pole Telescope (SPT). We estimate the lensing signal using temperature maps constructed from the initial 2 years of data from the SPT-3G 'Main' survey, covering 1500 deg$^2$ of the Southern sky. We then use this signal as a proxy for the mean cluster mass of the DES sample. In this work, we employ three versions of the redMaPPer catalogue: a Flux-Limited sample containing 8865 clusters, a Volume-Limited sample with 5391 clusters, and a Volume&Redshift-Limited sample with 4450 clusters. For the three samples, we find the mean cluster masses to be ${M}_{200{\rm{m}}}=1.66\pm0.13$ [stat.]$\pm0.03$ [sys.], $1.97\pm0.18$ [stat.]$\pm0.05$ [sys.], and $2.11\pm0.20$ [stat.]$\pm0.05$ [sys.]$\times{10}^{14}\ {\rm{M}}_{\odot }$, respectively. This is a factor of $\sim2$ improvement relative to the precision of measurements with previous generations of SPT surveys and the most constraining cluster mass measurements using CMB cluster lensing to date. Overall, we find no significant tensions between our results and masses given by redMaPPer mass-richness scaling relations of previous works, which were calibrated using CMB cluster lensing, optical weak lensing, and velocity dispersion measurements from various combinations of DES, SDSS and Planck data. We then divide our sample into 3 redshift and 3 richness bins, finding no significant tensions with optical weak-lensing calibrated masses in these bins. We forecast a $5.8\%$ constraint on the mean cluster mass of the DES Y3 sample with the complete SPT-3G surveys when using both temperature and polarization data and including an additional $\sim1400$ deg$^2$ of observations from the 'Extended' SPT-3G survey