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Pregled bibliografske jedinice broj: 1249500

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

(CREAM Consortium ; 23andMe Research Team ; UK Biobank Eye Vision Consortium) Tedja, Milly S.; Wojciechowski, Robert; Hysi, Pirro G.; Eriksson, Nicholas; Furlotte, Nicholas A.; Verhoeven, Virginie J. M.; Iglesias, Adriana I.; Meester-Smoor, Magda A.; Tompson, Stuart W.; Fan, Qiao et al.
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error // Nature genetics, 50 (2018), 6; 834-848 doi:10.1038/s41588-018-0127-7 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1249500 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

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

Autori
Tedja, Milly S. ; Wojciechowski, Robert ; Hysi, Pirro G. ; Eriksson, Nicholas ; Furlotte, Nicholas A. ; Verhoeven, Virginie J. M. ; Iglesias, Adriana I. ; Meester-Smoor, Magda A. ; Tompson, Stuart W. ; Fan, Qiao ; Khawaja, Anthony P. ; Cheng, Ching- Yu ; Hoehn, Rene ; Yamashiro, Kenji ; Wenocur, Adam ; Grazal, Clare ; Haller, Toomas ; Metspalu, Andres ; Wedenoja, Juho ; Jonas, Jost B. ; Wang, Ya Xing ; Xie, Jing ; Mitchell, Paul ; Foster, Paul J. ; Klein, Barbara E. K. ; Klein, Ronald ; Paterson, Andrew D. ; Hosseini, S. Mohsen ; Shah, Rupal L. ; Williams, Cathy ; Teo, Yik Ying ; Tham, Yih Chung ; Gupta, Preeti ; Zhao, Wanting ; Shi, Yuan ; Saw, Woei-Yuh ; Tai, E-Shyong ; Sim, Xue Ling ; Huffman, Jennifer E. ; Polašek, Ozren ; Hayward, Caroline ; Bencic, Goran ; Rudan, Igor ; Wilson, James F. ; Joshi, Peter K. ; Tsujikawa, Akitaka ; Matsuda, Fumihiko ; Whisenhunt, Kristina N. ; Zeller, Tanja ; van der Spek, Peter J. ; Haak, Roxanna ; Meijers-Heijboer, Hanne ; van Leeuwen, Elisabeth M. ; Iyengar, Sudha K. ; Lass, Jonathan H. ; Hofman, Albert ; Rivadeneira, Fernando ; Uitterlinden, Andre G. ; Vingerling, Johannes R. ; Lehtimaki, Terho ; Raitakari, Olli T. ; Biino, Ginevra ; Concas, Maria Pina ; Schwantes-An, Tae-Hwi ; Igo, Robert P., Jr. ; Cuellar-Partida, Gabriel ; Martin, Nicholas G. ; Craig, Jamie E. ; Gharahkhani, Puya ; Williams, Katie M. ; Nag, Abhishek ; Rahi, Jugnoo S. ; Cumberland, Phillippa M. ; Delcourt, Cecile ; Bellenguez, Celine ; Ried, Janina S. ; Bergen, Arthur A. ; Meitinger, Thomas ; Gieger, Christian ; Wong, Tien Yin ; Hewitt, Alex W. ; Mackey, David A. ; Simpson, Claire L. ; Pfeiffer, Norbert ; Parssinen, Olavi ; Baird, Paul N. ; Vitart, Veronique ; Amin, Najaf ; van Duijn, Cornelia M. ; Bailey-Wilson, Joan E. ; Young, Terri L. ; Saw, Seang-Mei ; Stambolian, Dwight ; MacGregor, Stuart ; Guggenheim, Jeremy A. ; Tung, Joyce Y. ; Hammond, Christopher J. ; Klaver, Caroline C. W.

Kolaboracija
CREAM Consortium ; 23andMe Research Team ; UK Biobank Eye Vision Consortium

Izvornik
Nature genetics (1061-4036) 50 (2018), 6; 834-848

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
HIGH-GRADE MYOPIA ; RETINAL-PIGMENT EPITHELIUM ; SEROTONIN PATHWAY GENES ; FORM-DEPRIVATION MYOPIA ; COMMON VARIANTS ; OCULAR GROWTH ; RETINITIS-PIGMENTOSA ; GENOTYPE IMPUTATION ; MISSENSE MUTATIONS ; DOPAMINE-RECEPTORS

Sažetak
Refractive errors, including myopia, are the most frequent eye disorders worldwide and an increasingly common cause of blindness. This genome-wide association meta-analysis in 160, 420 participants and replication in 95, 505 participants increased the number of established independent signals from 37 to 161 and showed high genetic correlation between Europeans and Asians (>0.78). Expression experiments and comprehensive in silico analyses identified retinal cell physiology and light processing as prominent mechanisms, and also identified functional contributions to refractive-error development in all cell types of the neurosensory retina, retinal pigment epithelium, vascular endothelium and extracellular matrix. Newly identified genes implicate novel mechanisms such as rod-and-cone bipolar synaptic neurotransmission, anterior- segment morphology and angiogenesis. Thirty-one loci resided in or near regions transcribing small RNAs, thus suggesting a role for post- transcriptional regulation. Our results support the notion that refractive errors are caused by a light-dependent retina-to-sclera signaling cascade and delineate potential pathobiological molecular drivers.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Split

Profili:

Avatar Url Ozren Polašek (autor)

Avatar Url Goran Benčić (autor)

Poveznice na cjeloviti tekst rada:

doi www.nature.com

Citiraj ovu publikaciju:

(CREAM Consortium ; 23andMe Research Team ; UK Biobank Eye Vision Consortium) Tedja, Milly S.; Wojciechowski, Robert; Hysi, Pirro G.; Eriksson, Nicholas; Furlotte, Nicholas A.; Verhoeven, Virginie J. M.; Iglesias, Adriana I.; Meester-Smoor, Magda A.; Tompson, Stuart W.; Fan, Qiao et al.
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error // Nature genetics, 50 (2018), 6; 834-848 doi:10.1038/s41588-018-0127-7 (međunarodna recenzija, članak, znanstveni)
(CREAM Consortium ; 23andMe Research Team ; UK Biobank Eye Vision Consortium) (CREAM Consortium, 23andMe Research Team, UK Biobank Eye Vision Consortium) Tedja, M., Wojciechowski, R., Hysi, P., Eriksson, N., Furlotte, N., Verhoeven, V., Iglesias, A., Meester-Smoor, M., Tompson, S. & Fan, Q. (2018) Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. Nature genetics, 50 (6), 834-848 doi:10.1038/s41588-018-0127-7.
@article{article, author = {Tedja, Milly S. and Wojciechowski, Robert and Hysi, Pirro G. and Eriksson, Nicholas and Furlotte, Nicholas A. and Verhoeven, Virginie J. M. and Iglesias, Adriana I. and Meester-Smoor, Magda A. and Tompson, Stuart W. and Fan, Qiao and Khawaja, Anthony P. and Cheng, Ching- Yu and Hoehn, Rene and Yamashiro, Kenji and Wenocur, Adam and Grazal, Clare and Haller, Toomas and Metspalu, Andres and Wedenoja, Juho and Jonas, Jost B. and Wang, Ya Xing and Xie, Jing and Mitchell, Paul and Foster, Paul J. and Klein, Barbara E. K. and Klein, Ronald and Paterson, Andrew D. and Hosseini, S. Mohsen and Shah, Rupal L. and Williams, Cathy and Teo, Yik Ying and Tham, Yih Chung and Gupta, Preeti and Zhao, Wanting and Shi, Yuan and Saw, Woei-Yuh and Tai, E-Shyong and Sim, Xue Ling and Huffman, Jennifer E. and Pola\v{s}ek, Ozren and Hayward, Caroline and Bencic, Goran and Rudan, Igor and Wilson, James F. and Joshi, Peter K. and Tsujikawa, Akitaka and Matsuda, Fumihiko and Whisenhunt, Kristina N. and Zeller, Tanja and van der Spek, Peter J. and Haak, Roxanna and Meijers-Heijboer, Hanne and van Leeuwen, Elisabeth M. and Iyengar, Sudha K. and Lass, Jonathan H. and Hofman, Albert and Rivadeneira, Fernando and Uitterlinden, Andre G. and Vingerling, Johannes R. and Lehtimaki, Terho and Raitakari, Olli T. and Biino, Ginevra and Concas, Maria Pina and Schwantes-An, Tae-Hwi and Cuellar-Partida, Gabriel and Martin, Nicholas G. and Craig, Jamie E. and Gharahkhani, Puya and Williams, Katie M. and Nag, Abhishek and Rahi, Jugnoo S. and Cumberland, Phillippa M. and Delcourt, Cecile and Bellenguez, Celine and Ried, Janina S. and Bergen, Arthur A. and Meitinger, Thomas and Gieger, Christian and Wong, Tien Yin and Hewitt, Alex W. and Mackey, David A. and Simpson, Claire L. and Pfeiffer, Norbert and Parssinen, Olavi and Baird, Paul N. and Vitart, Veronique and Amin, Najaf and van Duijn, Cornelia M. and Bailey-Wilson, Joan E. and Young, Terri L. and Saw, Seang-Mei and Stambolian, Dwight and MacGregor, Stuart and Guggenheim, Jeremy A. and Tung, Joyce Y. and Hammond, Christopher J. and Klaver, Caroline C. W.}, year = {2018}, pages = {834-848}, DOI = {10.1038/s41588-018-0127-7}, keywords = {HIGH-GRADE MYOPIA, RETINAL-PIGMENT EPITHELIUM, SEROTONIN PATHWAY GENES, FORM-DEPRIVATION MYOPIA, COMMON VARIANTS, OCULAR GROWTH, RETINITIS-PIGMENTOSA, GENOTYPE IMPUTATION, MISSENSE MUTATIONS, DOPAMINE-RECEPTORS}, journal = {Nature genetics}, doi = {10.1038/s41588-018-0127-7}, volume = {50}, number = {6}, issn = {1061-4036}, title = {Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error}, keyword = {HIGH-GRADE MYOPIA, RETINAL-PIGMENT EPITHELIUM, SEROTONIN PATHWAY GENES, FORM-DEPRIVATION MYOPIA, COMMON VARIANTS, OCULAR GROWTH, RETINITIS-PIGMENTOSA, GENOTYPE IMPUTATION, MISSENSE MUTATIONS, DOPAMINE-RECEPTORS} }
@article{article, author = {Tedja, Milly S. and Wojciechowski, Robert and Hysi, Pirro G. and Eriksson, Nicholas and Furlotte, Nicholas A. and Verhoeven, Virginie J. M. and Iglesias, Adriana I. and Meester-Smoor, Magda A. and Tompson, Stuart W. and Fan, Qiao and Khawaja, Anthony P. and Cheng, Ching- Yu and Hoehn, Rene and Yamashiro, Kenji and Wenocur, Adam and Grazal, Clare and Haller, Toomas and Metspalu, Andres and Wedenoja, Juho and Jonas, Jost B. and Wang, Ya Xing and Xie, Jing and Mitchell, Paul and Foster, Paul J. and Klein, Barbara E. K. and Klein, Ronald and Paterson, Andrew D. and Hosseini, S. Mohsen and Shah, Rupal L. and Williams, Cathy and Teo, Yik Ying and Tham, Yih Chung and Gupta, Preeti and Zhao, Wanting and Shi, Yuan and Saw, Woei-Yuh and Tai, E-Shyong and Sim, Xue Ling and Huffman, Jennifer E. and Pola\v{s}ek, Ozren and Hayward, Caroline and Bencic, Goran and Rudan, Igor and Wilson, James F. and Joshi, Peter K. and Tsujikawa, Akitaka and Matsuda, Fumihiko and Whisenhunt, Kristina N. and Zeller, Tanja and van der Spek, Peter J. and Haak, Roxanna and Meijers-Heijboer, Hanne and van Leeuwen, Elisabeth M. and Iyengar, Sudha K. and Lass, Jonathan H. and Hofman, Albert and Rivadeneira, Fernando and Uitterlinden, Andre G. and Vingerling, Johannes R. and Lehtimaki, Terho and Raitakari, Olli T. and Biino, Ginevra and Concas, Maria Pina and Schwantes-An, Tae-Hwi and Cuellar-Partida, Gabriel and Martin, Nicholas G. and Craig, Jamie E. and Gharahkhani, Puya and Williams, Katie M. and Nag, Abhishek and Rahi, Jugnoo S. and Cumberland, Phillippa M. and Delcourt, Cecile and Bellenguez, Celine and Ried, Janina S. and Bergen, Arthur A. and Meitinger, Thomas and Gieger, Christian and Wong, Tien Yin and Hewitt, Alex W. and Mackey, David A. and Simpson, Claire L. and Pfeiffer, Norbert and Parssinen, Olavi and Baird, Paul N. and Vitart, Veronique and Amin, Najaf and van Duijn, Cornelia M. and Bailey-Wilson, Joan E. and Young, Terri L. and Saw, Seang-Mei and Stambolian, Dwight and MacGregor, Stuart and Guggenheim, Jeremy A. and Tung, Joyce Y. and Hammond, Christopher J. and Klaver, Caroline C. W.}, year = {2018}, pages = {834-848}, DOI = {10.1038/s41588-018-0127-7}, keywords = {HIGH-GRADE MYOPIA, RETINAL-PIGMENT EPITHELIUM, SEROTONIN PATHWAY GENES, FORM-DEPRIVATION MYOPIA, COMMON VARIANTS, OCULAR GROWTH, RETINITIS-PIGMENTOSA, GENOTYPE IMPUTATION, MISSENSE MUTATIONS, DOPAMINE-RECEPTORS}, journal = {Nature genetics}, doi = {10.1038/s41588-018-0127-7}, volume = {50}, number = {6}, issn = {1061-4036}, title = {Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error}, keyword = {HIGH-GRADE MYOPIA, RETINAL-PIGMENT EPITHELIUM, SEROTONIN PATHWAY GENES, FORM-DEPRIVATION MYOPIA, COMMON VARIANTS, OCULAR GROWTH, RETINITIS-PIGMENTOSA, GENOTYPE IMPUTATION, MISSENSE MUTATIONS, DOPAMINE-RECEPTORS} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE
  • Nature Index

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