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Page 1
Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.
Simpson CL, Wojciechowski R, Oexle K, Murgia F, Portas L, Li X, Verhoeven VJ, Vitart V, Schache M, Hosseini SM, Hysi PG, Raffel LJ, Cotch MF, Chew E, Klein BE, Klein R, Wong TY, van Duijn CM, Mitchell P, Saw SM, Fossarello M, Wang JJ; DCCT/EDIC Research Group; Polašek O, Campbell H, Rudan I, Oostra BA, Uitterlinden AG, Hofman A, Rivadeneira F, Amin N, Karssen LC, Vingerling JR, Döring A, Bettecken T, Bencic G, Gieger C, Wichmann HE, Wilson JF, Venturini C, Fleck B, Cumberland PM, Rahi JS, Hammond CJ, Hayward C, Wright AF, Paterson AD, Baird PN, Klaver CC, Rotter JI, Pirastu M, Meitinger T, Bailey-Wilson JE, Stambolian D. Simpson CL, et al. Among authors: fleck b. PLoS One. 2014 Sep 18;9(9):e107110. doi: 10.1371/journal.pone.0107110. eCollection 2014. PLoS One. 2014. PMID: 25233373 Free PMC article.
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.
Verhoeven VJ, Hysi PG, Wojciechowski R, Fan Q, Guggenheim JA, Höhn R, MacGregor S, Hewitt AW, Nag A, Cheng CY, Yonova-Doing E, Zhou X, Ikram MK, Buitendijk GH, McMahon G, Kemp JP, Pourcain BS, Simpson CL, Mäkelä KM, Lehtimäki T, Kähönen M, Paterson AD, Hosseini SM, Wong HS, Xu L, Jonas JB, Pärssinen O, Wedenoja J, Yip SP, Ho DW, Pang CP, Chen LJ, Burdon KP, Craig JE, Klein BE, Klein R, Haller T, Metspalu A, Khor CC, Tai ES, Aung T, Vithana E, Tay WT, Barathi VA; Consortium for Refractive Error and Myopia (CREAM); Chen P, Li R, Liao J, Zheng Y, Ong RT, Döring A; Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions and Complications (DCCT/EDIC) Research Group; Evans DM, Timpson NJ, Verkerk AJ, Meitinger T, Raitakari O, Hawthorne F, Spector TD, Karssen LC, Pirastu M, Murgia F, Ang W; Wellcome Trust Case Control Consortium 2 (WTCCC2); Mishra A, Montgomery GW, Pennell CE, Cumberland PM, Cotlarciuc I, Mitchell P, Wang JJ, Schache M, Janmahasatian S, Igo RP Jr, Lass JH, Chew E, Iyengar SK; Fuchs' Genetics Multi-Center Study Group; Gorgels TG, Rudan I, Hayward C, Wright AF, Polasek O, Vatavuk Z, Wilson JF, Fleck B, Zeller T, Mirshahi A, Müller C, Uitterli… See abstract for full author list ➔ Verhoeven VJ, et al. Among authors: fleck b. Nat Genet. 2013 Mar;45(3):314-8. doi: 10.1038/ng.2554. Epub 2013 Feb 10. Nat Genet. 2013. PMID: 23396134 Free PMC article.
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.
Stambolian D, Wojciechowski R, Oexle K, Pirastu M, Li X, Raffel LJ, Cotch MF, Chew EY, Klein B, Klein R, Wong TY, Simpson CL, Klaver CC, van Duijn CM, Verhoeven VJ, Baird PN, Vitart V, Paterson AD, Mitchell P, Saw SM, Fossarello M, Kazmierkiewicz K, Murgia F, Portas L, Schache M, Richardson A, Xie J, Wang JJ, Rochtchina E; DCCT/EDIC Research Group; Viswanathan AC, Hayward C, Wright AF, Polasek O, Campbell H, Rudan I, Oostra BA, Uitterlinden AG, Hofman A, Rivadeneira F, Amin N, Karssen LC, Vingerling JR, Hosseini SM, Döring A, Bettecken T, Vatavuk Z, Gieger C, Wichmann HE, Wilson JF, Fleck B, Foster PJ, Topouzis F, McGuffin P, Sim X, Inouye M, Holliday EG, Attia J, Scott RJ, Rotter JI, Meitinger T, Bailey-Wilson JE. Stambolian D, et al. Among authors: fleck b. Hum Mol Genet. 2013 Jul 1;22(13):2754-64. doi: 10.1093/hmg/ddt116. Epub 2013 Mar 7. Hum Mol Genet. 2013. PMID: 23474815 Free PMC article.
Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
Cheng CY, Schache M, Ikram MK, Young TL, Guggenheim JA, Vitart V, MacGregor S, Verhoeven VJ, Barathi VA, Liao J, Hysi PG, Bailey-Wilson JE, St Pourcain B, Kemp JP, McMahon G, Timpson NJ, Evans DM, Montgomery GW, Mishra A, Wang YX, Wang JJ, Rochtchina E, Polasek O, Wright AF, Amin N, van Leeuwen EM, Wilson JF, Pennell CE, van Duijn CM, de Jong PT, Vingerling JR, Zhou X, Chen P, Li R, Tay WT, Zheng Y, Chew M; Consortium for Refractive Error and Myopia; Burdon KP, Craig JE, Iyengar SK, Igo RP Jr, Lass JH Jr; Fuchs' Genetics Multi-Center Study Group; Chew EY, Haller T, Mihailov E, Metspalu A, Wedenoja J, Simpson CL, Wojciechowski R, Höhn R, Mirshahi A, Zeller T, Pfeiffer N, Lackner KJ; Wellcome Trust Case Control Consortium 2; Bettecken T, Meitinger T, Oexle K, Pirastu M, Portas L, Nag A, Williams KM, Yonova-Doing E, Klein R, Klein BE, Hosseini SM, Paterson AD; Diabetes Control and Complications Trial/Epidemiology of Diabetes Interventions, and Complications Research Group; Makela KM, Lehtimaki T, Kahonen M, Raitakari O, Yoshimura N, Matsuda F, Chen LJ, Pang CP, Yip SP, Yap MK, Meguro A, Mizuki N, Inoko H, Foster PJ, Zhao JH, Vithana E, Tai ES, Fan Q, Xu L, Campbell H, Fleck B,… See abstract for full author list ➔ Cheng CY, et al. Among authors: fleck b. Am J Hum Genet. 2013 Aug 8;93(2):264-77. doi: 10.1016/j.ajhg.2013.06.016. Am J Hum Genet. 2013. PMID: 24144296 Free PMC article.
Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.
Fan Q, Verhoeven VJ, Wojciechowski R, Barathi VA, Hysi PG, Guggenheim JA, Höhn R, Vitart V, Khawaja AP, Yamashiro K, Hosseini SM, Lehtimäki T, Lu Y, Haller T, Xie J, Delcourt C, Pirastu M, Wedenoja J, Gharahkhani P, Venturini C, Miyake M, Hewitt AW, Guo X, Mazur J, Huffman JE, Williams KM, Polasek O, Campbell H, Rudan I, Vatavuk Z, Wilson JF, Joshi PK, McMahon G, St Pourcain B, Evans DM, Simpson CL, Schwantes-An TH, Igo RP, Mirshahi A, Cougnard-Gregoire A, Bellenguez C, Blettner M, Raitakari O, Kähönen M, Seppala I, Zeller T, Meitinger T; Consortium for Refractive Error and Myopia; Ried JS, Gieger C, Portas L, van Leeuwen EM, Amin N, Uitterlinden AG, Rivadeneira F, Hofman A, Vingerling JR, Wang YX, Wang X, Tai-Hui Boh E, Ikram MK, Sabanayagam C, Gupta P, Tan V, Zhou L, Ho CE, Lim W, Beuerman RW, Siantar R, Tai ES, Vithana E, Mihailov E, Khor CC, Hayward C, Luben RN, Foster PJ, Klein BE, Klein R, Wong HS, Mitchell P, Metspalu A, Aung T, Young TL, He M, Pärssinen O, van Duijn CM, Jin Wang J, Williams C, Jonas JB, Teo YY, Mackey DA, Oexle K, Yoshimura N, Paterson AD, Pfeiffer N, Wong TY, Baird PN, Stambolian D, Wilson JE, Cheng CY, Hammond CJ, Klaver CC, Saw SM, Rahi JS, Korobelnik J… See abstract for full author list ➔ Fan Q, et al. Among authors: fleck b. Nat Commun. 2016 Mar 29;7:11008. doi: 10.1038/ncomms11008. Nat Commun. 2016. PMID: 27020472 Free PMC article.
Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.
Tedja MS, Wojciechowski R, Hysi PG, Eriksson N, Furlotte NA, Verhoeven VJM, Iglesias AI, Meester-Smoor MA, Tompson SW, Fan Q, Khawaja AP, Cheng CY, 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 WY, Tai ES, Sim XL, Huffman JE, Polašek O, Hayward C, Bencic G, Rudan I, Wilson JF; CREAM Consortium; 23andMe Research Team; UK Biobank Eye and Vision Consortium; 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 TH, Igo RP Jr, 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 SM, Stambolian D, MacGregor S, Guggenheim JA, Tung JY, Hammond CJ, K… See abstract for full author list ➔ Tedja MS, et al. Nat Genet. 2018 Jun;50(6):834-848. doi: 10.1038/s41588-018-0127-7. Epub 2018 May 28. Nat Genet. 2018. PMID: 29808027 Free PMC article.
New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.
Vitart V, Bencić G, Hayward C, Skunca Herman J, Huffman J, Campbell S, Bućan K, Navarro P, Gunjaca G, Marin J, Zgaga L, Kolcić I, Polasek O, Kirin M, Hastie ND, Wilson JF, Rudan I, Campbell H, Vatavuk Z, Fleck B, Wright A. Vitart V, et al. Among authors: fleck b. Hum Mol Genet. 2010 Nov 1;19(21):4304-11. doi: 10.1093/hmg/ddq349. Epub 2010 Aug 18. Hum Mol Genet. 2010. PMID: 20719862
Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium.
Fan Q, Guo X, Tideman JW, Williams KM, Yazar S, Hosseini SM, Howe LD, Pourcain BS, Evans DM, Timpson NJ, McMahon G, Hysi PG, Krapohl E, Wang YX, Jonas JB, Baird PN, Wang JJ, Cheng CY, Teo YY, Wong TY, Ding X, Wojciechowski R, Young TL, Pärssinen O, Oexle K, Pfeiffer N, Bailey-Wilson JE, Paterson AD, Klaver CC, Plomin R, Hammond CJ, Mackey DA, He M, Saw SM, Williams C, Guggenheim JA; CREAM Consortium. Fan Q, et al. Sci Rep. 2016 May 13;6:25853. doi: 10.1038/srep25853. Sci Rep. 2016. PMID: 27174397 Free PMC article.
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
Li Q, Wojciechowski R, Simpson CL, Hysi PG, Verhoeven VJ, Ikram MK, Höhn R, Vitart V, Hewitt AW, Oexle K, Mäkelä KM, MacGregor S, Pirastu M, Fan Q, Cheng CY, St Pourcain B, McMahon G, Kemp JP, Northstone K, Rahi JS, Cumberland PM, Martin NG, Sanfilippo PG, Lu Y, Wang YX, Hayward C, Polašek O, Campbell H, Bencic G, Wright AF, Wedenoja J, Zeller T, Schillert A, Mirshahi A, Lackner K, Yip SP, Yap MK, Ried JS, Gieger C, Murgia F, Wilson JF, Fleck B, Yazar S, Vingerling JR, Hofman A, Uitterlinden A, Rivadeneira F, Amin N, Karssen L, Oostra BA, Zhou X, Teo YY, Tai ES, Vithana E, Barathi V, Zheng Y, Siantar RG, Neelam K, Shin Y, Lam J, Yonova-Doing E, Venturini C, Hosseini SM, Wong HS, Lehtimäki T, Kähönen M, Raitakari O, Timpson NJ, Evans DM, Khor CC, Aung T, Young TL, Mitchell P, Klein B, van Duijn CM, Meitinger T, Jonas JB, Baird PN, Mackey DA, Wong TY, Saw SM, Pärssinen O, Stambolian D, Hammond CJ, Klaver CC, Williams C, Paterson AD, Bailey-Wilson JE, Guggenheim JA; CREAM Consortium. Li Q, et al. Among authors: fleck b. Hum Genet. 2015 Feb;134(2):131-46. doi: 10.1007/s00439-014-1500-y. Epub 2014 Nov 4. Hum Genet. 2015. PMID: 25367360 Free PMC article.
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
Lu Y, Vitart V, Burdon KP, Khor CC, Bykhovskaya Y, Mirshahi A, Hewitt AW, Koehn D, Hysi PG, Ramdas WD, Zeller T, Vithana EN, Cornes BK, Tay WT, Tai ES, Cheng CY, Liu J, Foo JN, Saw SM, Thorleifsson G, Stefansson K, Dimasi DP, Mills RA, Mountain J, Ang W, Hoehn R, Verhoeven VJ, Grus F, Wolfs R, Castagne R, Lackner KJ, Springelkamp H, Yang J, Jonasson F, Leung DY, Chen LJ, Tham CC, Rudan I, Vatavuk Z, Hayward C, Gibson J, Cree AJ, MacLeod A, Ennis S, Polasek O, Campbell H, Wilson JF, Viswanathan AC, Fleck B, Li X, Siscovick D, Taylor KD, Rotter JI, Yazar S, Ulmer M, Li J, Yaspan BL, Ozel AB, Richards JE, Moroi SE, Haines JL, Kang JH, Pasquale LR, Allingham RR, Ashley-Koch A; NEIGHBOR Consortium; Mitchell P, Wang JJ, Wright AF, Pennell C, Spector TD, Young TL, Klaver CC, Martin NG, Montgomery GW, Anderson MG, Aung T, Willoughby CE, Wiggs JL, Pang CP, Thorsteinsdottir U, Lotery AJ, Hammond CJ, van Duijn CM, Hauser MA, Rabinowitz YS, Pfeiffer N, Mackey DA, Craig JE, Macgregor S, Wong TY. Lu Y, et al. Among authors: fleck b. Nat Genet. 2013 Feb;45(2):155-63. doi: 10.1038/ng.2506. Epub 2013 Jan 6. Nat Genet. 2013. PMID: 23291589 Free PMC article.
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