Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

Autor: Tedja, MS, Wojciechowski, R, Hysi, PG, Eriksson, N, Furlotte, NA, Verhoeven, VJM, Iglesias, AI, Meester-Smoor, MA, Tompson, SW, Fan, Q, Khawaja, AP, Cheng, C-Y, Höhn, R, Yamashiro, K, Wenocur, A, Grazal, C, Haller, T, Metspalu, A, Wedenoja, J, Jonas, JB, Wang, YX, Xie, J, Mitchell, P, Foster, PJ, Klein, BEK, Klein, R, Paterson, AD, Hosseini, SM, Shah, RL, Williams, C, Teo, YY, Tham, YC, Gupta, P, Zhao, W, Shi, Y, Saw, W-Y, Tai, E-S, Sim, XL, Huffman, JE, Polašek, O, Hayward, C, Bencic, G, Rudan, I, Wilson, JF, Consortium, Cream, Team, 23Andme Research, Consortium, Uk Biobank Eye And Vision, Joshi, PK, Tsujikawa, A, Matsuda, F, Whisenhunt, KN, Zeller, T, Van Der Spek, PJ, Haak, R, Meijers-Heijboer, H, Van Leeuwen, EM, Iyengar, SK, Lass, JH, Hofman, A, Rivadeneira, F, Uitterlinden, AG, Vingerling, JR, Lehtimäki, T, Raitakari, OT, Biino, G, Concas, MP, Schwantes-An, T-H, Igo, RP, Cuellar-Partida, G, Martin, NG, Craig, JE, Gharahkhani, P, Williams, KM, Nag, A, Rahi, JS, Cumberland, PM, Delcourt, C, Bellenguez, C, Ried, JS, Bergen, AA, Meitinger, T, Gieger, C, Wong, TY, Hewitt, AW, Mackey, DA, Simpson, CL, Pfeiffer, N, Pärssinen, O, Baird, PN, Vitart, V, Amin, N, Van Duijn, CM, Bailey-Wilson, JE, Young, TL, Saw, S-M, Stambolian, D, Macgregor, S, Guggenheim, JA, Tung, JY, Hammond, CJ, Klaver, CCW
Přispěvatelé: Netherlands Institute for Neuroscience (NIN), Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Pediatric surgery, Tedja, Milly S [0000-0003-0356-9684], Hysi, Pirro G [0000-0001-5752-2510], Verhoeven, Virginie JM [0000-0001-7359-7862], Iglesias, Adriana I [0000-0001-5532-764X], Tompson, Stuart W [0000-0001-9788-6730], Khawaja, Anthony P [0000-0001-6802-8585], Yamashiro, Kenji [0000-0001-9354-8558], Wedenoja, Juho [0000-0002-6155-0378], Jonas, Jost B [0000-0003-2972-5227], Wang, Ya Xing [0000-0003-2749-7793], Foster, Paul J [0000-0002-4755-177X], Klein, Ronald [0000-0002-4428-6237], Shah, Rupal L [0000-0001-8789-8869], Hayward, Caroline [0000-0002-9405-9550], Rudan, Igor [0000-0001-6993-6884], Wilson, James F [0000-0001-5751-9178], Joshi, Peter K [0000-0002-6361-5059], Whisenhunt, Kristina N [0000-0003-2412-7666], Rivadeneira, Fernando [0000-0001-9435-9441], Biino, Ginevra [0000-0002-9936-946X], Gharahkhani, Puya [0000-0002-4203-5952], Williams, Katie M [0000-0003-4596-3938], Delcourt, Cécile [0000-0002-2099-0481], Bellenguez, Céline [0000-0002-1240-7874], Hewitt, Alex W [0000-0002-5123-5999], Baird, Paul N [0000-0002-1305-3502], Bailey-Wilson, Joan E [0000-0002-9153-2920], Young, Terri L [0000-0001-6994-9941], Guggenheim, Jeremy A [0000-0001-5164-340X], Hammond, Christopher J [0000-0002-3227-2620], Klaver, Caroline CW [0000-0002-2355-5258], Apollo - University of Cambridge Repository, Epidemiology, Ophthalmology, Clinical Genetics, Pathology, Internal Medicine, Graduate School, Human Genetics, Experimental Immunology, ANS - Complex Trait Genetics, ARD - Amsterdam Reproduction and Development
Jazyk: angličtina
Rok vydání: 2018
Předmět:
0301 basic medicine
Adult
Male
Cell type
ResearchInstitutes_Networks_Beacons/MICRA
In silico
taittovirheet
Genome-wide association study
Retinal Pigment Epithelium
Biology
Blindness
Polymorphism
Single Nucleotide
Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
Article
Retina
White People
03 medical and health sciences
HIGH-GRADE MYOPIA
RETINAL-PIGMENT EPITHELIUM
SEROTONIN PATHWAY GENES
FORM-DEPRIVATION MYOPIA
COMMON VARIANTS
OCULAR GROWTH
RETINITIS-PIGMENTOSA
GENOTYPE IMPUTATION
MISSENSE MUTATIONS
DOPAMINE-RECEPTORS
Asian People
refractive errors
Retinitis pigmentosa
Genetics
medicine
Myopia
Journal Article
Humans
Genetic Predisposition to Disease
610 Medicine & health
Regulation of gene expression
Retinal pigment epithelium
medicine.disease
Refractive Errors
030104 developmental biology
medicine.anatomical_structure
Manchester Institute for Collaborative Research on Ageing
Gene Expression Regulation
genetic factors
Eye disorder
Female
sense organs
geneettiset tekijät
Neuroscience
Genome-Wide Association Study
Signal Transduction
Zdroj: Nature Genetics, 50(6), 834-848. Nature Publishing Group
CREAM Consortium 2018, ' Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error ', Nature Genetics, vol. 50, no. 6, pp. 834-848 . https://doi.org/10.1038/s41588-018-0127-7
the 23 and Me Research Team & Tedja, M S 2018, ' Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error ', Nature Genetics, vol. 50, no. 6, pp. 834-848 . https://doi.org/10.1038/s41588-018-0127-7
Nature Genetics, 50, 834-848
Nature genetics
Tedja, M S, Wojciechowski, R, Hysi, P, Eriksson, N, Furlotte, N A, Verhoeven, V J M, Iglesias, A I, Meester-Smoor, M A, Khawaja, A P, Cheng, C Y, Horn, R, Yamashiro, K, Wenocur, A, Grazal., C, Haller, T, Metspalu, A, Wedenoja, J, Jonas, J B, Wang, Y X, Mitchell, P, Hammond, C, Klaver, C C W, Consortium, T CREAM, Research Team & Eye and Vision Consortium, UK B 2018, ' Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error ', Nature Genetics, vol. 50, no. 6, pp. 834-848 . https://doi.org/10.1038/s41588-018-0127-7
Tedja, M S, Wojciechowski, R, Hysi, P G, Eriksson, N, Furlotte, N A, Verhoeven, V J M, Iglesias, A I, Meester-Smoor, M A, Tompson, S W, Fan, Q, Khawaja, A P, Cheng, C-Y, Höhn, R, Yamashiro, K, Wenocur, A, Grazal, C, Haller, T, Metspalu, A, Wedenoja, J, Jonas, J B, Wang, Y X, Xie, J, Mitchell, P, Foster, P J, Klein, B E K, Klein, R, Paterson, A D, Hosseini, S M, Shah, R L, Williams, C, Teo, Y Y, Tham, Y C, Gupta, P, Zhao, W, Shi, Y, Saw, W-Y, Tai, E-S, Sim, X L, Huffman, J E, Polašek, O, Hayward, C, Bencic, G, Rudan, I, Wilson, J F, Joshi, P K, Tsujikawa, A, Matsuda, F, Whisenhunt, K N & Zeller, T & Vitart, V 2018, ' Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error ', Nature Genetics, vol. 50, pp. 834-848 . https://doi.org/10.1038/s41588-018-0127-7
Nature Genetics, 50, 6, pp. 834-848
Nat. Genet. 50, 834-848 (2018)
Nature Genetics
CREAM, 23andMe Research Team, UK Biobank Eye and Vision Consortium, Aslam, T M & Bishop, P N 2018, ' Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error ', Nature Genetics, vol. 50, no. 6, pp. 834-848 . https://doi.org/10.1038/s41588-018-0127-7
Nature genetics, 50(6), 834-848. Nature Publishing Group
ISSN: 1061-4036
Popis: Skin affections after sulfur mustard (SM) exposure include erythema, blister formation and severe inflammation. An antidote or specific therapy does not exist. Anti-inflammatory compounds as well as substances counteracting SM-induced cell death are under investigation. In this study, we investigated the benzylisoquinoline alkaloide berberine (BER), a metabolite in plants like berberis vulgaris, which is used as herbal pharmaceutical in Asian countries, against SM toxicity using a well-established in vitro approach. Keratinocyte (HaCaT) mono-cultures (MoC) or HaCaT/THP-1 co-cultures (CoC) were challenged with 100, 200 or 300 mM SM for 1 h. Post-exposure, both MoC and CoC were treated with 10, 30 or 50 mu M BER for 24 h. At that time, supernatants were collected and analyzed both for interleukine (IL) 6 and 8 levels and for content of adenylate-kinase (AK) as surrogate marker for cell necrosis. Cells were lysed and nucleosome formation as marker for late apoptosis was assessed. In parallel, AK in cells was determined for normalization purposes. BER treatment did not influence necrosis, but significantly decreased apoptosis. Anti-inflammatory effects were moderate, but also significant, primarily in CoC. Overall, BER has protective effects against SM toxicity in vitro. Whether this holds true should be evaluated in future in vivo studies.
Databáze: OpenAIRE
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