Integrability and Conformal Symmetry in the BCS model

The exactly solvable BCS Hamiltonian of superconductivity is considered from several viewpoints: Richardson's ansatz, conformal field theory, integrable inhomogenous vertex models and Chern-Simons theory.Comment: Latex with macros included, 12 pages, Proceedings of the NATO Advanced Research Workshop on Statistical Field Theories, Como 18-23 June 2001. Editors: Andrea Cappelli and Giuseppe Mussardo. to be published by Kluwer, Academic Publishers. Corrected some typos and further acknowledgment

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

This is the author accepted manuscript. The final version is available from Nature Publishing Group via http://dx.doi.org/10.1038/ng.3448Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering variants. Analyzing 16,144 patients and 17,832 controls, we identify 52 independently associated common and rare variants (P < 5 × 10(-8)) distributed across 34 loci. Although wet and dry AMD subtypes exhibit predominantly shared genetics, we identify the first genetic association signal specific to wet AMD, near MMP9 (difference P value = 4.1 × 10(-10)). Very rare coding variants (frequency <0.1%) in CFH, CFI and TIMP3 suggest causal roles for these genes, as does a splice variant in SLC16A8. Our results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes.We thank all participants of all the studies included for enabling this research by their participation in these studies. Computer resources for this project have been provided by the high-performance computing centers of the University of Michigan and the University of Regensburg. Group-specific acknowledgments can be found in the Supplementary Note. The Center for Inherited Diseases Research (CIDR) Program contract number is HHSN268201200008I. This and the main consortium work were predominantly funded by 1X01HG006934-01 to G.R.A. and R01 EY022310 to J.L.H

Iris Freckles a Potential Biomarker for Chronic Sun Damage

12siPURPOSE: To investigate the role of sunlight exposure in iris freckles formation. METHODS: We prospectively examined volunteers attending a skin cancer screening program conducted by ophthalmologists and dermatologists. Frequency and topographical variability of iris freckles were noted and associated with behavioral and dermatologic characteristics indicating high sun exposure. RESULTS: Six hundred thirty-two participants (n = 360; 57% female) were examined. Mean age of all participants was 38.4 ± 18.4 years (range, 4-84 years). Of all individuals, 76.1% (n = 481) exhibited at least one iris freckle. Most freckles were observed in the inferior temporal quadrant. The presence of iris freckles was associated with higher age (participants with iris freckles: 41.8 ± 16.8 years versus participants without iris freckles: 27.6 ± 19.2 years), a high number of sunburns during lifetime (>10: 31% vs. 19%), sunlight-damaged skin (26% vs. 11%), presence of actinic lentigines (72% vs. 45%), and a high total nevus body count (>10; 78% vs. 67%). CONCLUSIONS: The association of iris freckles, behavioral factors, and dermatologic findings, as well as the topographical distribution, indicate that sunlight exposure may trigger the formation of iris freckles. The evaluation of iris freckles offers an easily accessible potential biomarker, which might be helpful in indicating sun damage on the skin associated with cutaneous malignancies. Furthermore, the evaluation of iris freckles could also be helpful in understanding the role of sunlight in several ophthalmologic diseases.openopenopenSchwab, Christoph; Mayer, Christoph; Zalaudek, Iris; Riedl, Regina; Richtig, Markus; Wackernagel, Werner; Hofmann-Wellenhof, Rainer; Richtig, Georg; Langmann, Gerald; Tarmann, Lisa; Wedrich, Andreas; Richtig, ErikaSchwab, Christoph; Mayer, Christoph; Zalaudek, Iris; Riedl, Regina; Richtig, Markus; Wackernagel, Werner; Hofmann-Wellenhof, Rainer; Richtig, Georg; Langmann, Gerald; Tarmann, Lisa; Wedrich, Andreas; Richtig, Erik