Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.
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, Höhn René, 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, CREAM Consortium, 23andMe Research Team, UK Biobank Eye and Vision Consortium, 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 André G, Vingerling Johannes R, Lehtimäki Terho, Raitakari Olli T, Biino Ginevra, Concas Maria Pina, Schwantes-An Tae-Hwi, Igo Robert P, Cuellar-Partida Gabriel, Martin Nicholas G, Craig Jamie E, Gharahkhani Puya, Williams Katie M, Nag Abhishek, Rahi Jugnoo S, Cumberland Phillippa M, Delcourt Cécile, Bellenguez Céline, Ried Janina S, Bergen Arthur A, Meitinger Thomas, Gieger Christian, Wong Tien Yin, Hewitt Alex W, Mackey David A, Simpson Claire L, Pfeiffer Norbert, Pärssinen 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
СтатьяМетаанализПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПеревод в очереди
Аннотация
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.
Для цитирования: 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, Höhn René, 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, CREAM Consortium, 23andMe Research Team, UK Biobank Eye and Vision Consortium, 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 André G, Vingerling Johannes R, Lehtimäki Terho, Raitakari Olli T, Biino Ginevra, Concas Maria Pina, Schwantes-An Tae-Hwi, Igo Robert P, Cuellar-Partida Gabriel, Martin Nicholas G, Craig Jamie E, Gharahkhani Puya, Williams Katie M, Nag Abhishek, Rahi Jugnoo S, Cumberland Phillippa M, Delcourt Cécile, Bellenguez Céline, Ried Janina S, Bergen Arthur A, Meitinger Thomas, Gieger Christian, Wong Tien Yin, Hewitt Alex W, Mackey David A, Simpson Claire L, Pfeiffer Norbert, Pärssinen 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. Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.. Nature genetics. 2018. DOI: 10.1038/s41588-018-0127-7.
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