A genome-wide association study of corneal astigmatism : The CREAM Consortium
Shah, R. L., Li, Q., Zhao, W., Tedja, M. S., Tideman, J. W. L., Khawaja, A. P., Fan, Q., Yazar, S., Williams, K. M., Verhoeven, V. J., Xie, J., Wang, Y. X., Hess, M., Nickels, S., Lackner, K. J., Pärssinen, O., Wedenoja, J., Biino, G., Concas, M. P., . . . Bailey-Wilson, J. E. (2018). A genome-wide association study of corneal astigmatism : The CREAM Consortium. Molecular Vision, 24, 127-142. http://www.molvis.org/molvis/v24/127
Julkaistu sarjassa
Molecular VisionTekijät
Li, Qing |
Päivämäärä
2018Oppiaine
Gerontologia ja kansanterveysGerontologian tutkimuskeskusHyvinvoinnin tutkimuksen yhteisöGerontology and Public HealthGerontology Research CenterSchool of WellbeingTekijänoikeudet
© the Authors, 2018. Published by Molecular Vision. This is an open access article distributed under the terms of the Creative Commons License.
Purpose: To identify genes and genetic markers associated with corneal astigmatism.
Methods: A meta-analysis of genome-wide association studies (GWASs) of corneal astigmatism undertaken for 14 European ancestry (n=22,250) and 8 Asian ancestry (n=9,120) cohorts was performed by the Consortium for Refractive Error and Myopia. Cases were defined as having >0.75 diopters of corneal astigmatism. Subsequent gene-based and gene-set analyses of the meta-analyzed results of European ancestry cohorts were performed using VEGAS2 and MAGMA software. Additionally, estimates of single nucleotide polymorphism (SNP)-based heritability for corneal and refractive astigmatism and the spherical equivalent were calculated for Europeans using LD score regression.
Results: The meta-analysis of all cohorts identified a genome-wide significant locus near the platelet-derived growth factor receptor alpha (PDGFRA) gene: top SNP: rs7673984, odds ratio=1.12 (95% CI:1.08–1.16), p=5.55×10−9. No other genome-wide significant loci were identified in the combined analysis or European/Asian ancestry-specific analyses. Gene-based analysis identified three novel candidate genes for corneal astigmatism in Europeans—claudin-7 (CLDN7), acid phosphatase 2, lysosomal (ACP2), and TNF alpha-induced protein 8 like 3 (TNFAIP8L3).
Conclusions: In addition to replicating a previously identified genome-wide significant locus for corneal astigmatism near the PDGFRA gene, gene-based analysis identified three novel candidate genes, CLDN7, ACP2, and TNFAIP8L3, that warrant further investigation to understand their role in the pathogenesis of corneal astigmatism. The much lower number of genetic variants and genes demonstrating an association with corneal astigmatism compared to published spherical equivalent GWAS analyses suggest a greater influence of rare genetic variants, non-additive genetic effects, or environmental factors in the development of astigmatism.
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Julkaisija
Molecular VisionISSN Hae Julkaisufoorumista
1090-0535
Alkuperäislähde
http://www.molvis.org/molvis/v24/127Julkaisu tutkimustietojärjestelmässä
https://converis.jyu.fi/converis/portal/detail/Publication/27898299
Metadata
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Lisenssi
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Genome-Wide Association Study for Incident Myocardial Infarction and Coronary Heart Disease in Prospective Cohort Studies : The CHARGE Consortium
Dehghan, Abbas; Bis, Joshua C.; White, Charles C.; Smith, Albert Vernon; Morrison, Alanna C.; Cupples, L. Adrienne; Trompet, Stella; Chasman, Daniel I.; Lumley, Thomas; Völker, Uwe; Buckley, Brendan M.; Ding, Jingzhong; Jensen, Majken K.; Folsom, Aaron R.; Kritchevsky, Stephen B.; Girman, Cynthia J.; Ford, Ian; Dörr, Marcus; Salomaa, Veikko; Uitterlinden, André G.; Eiriksdottir, Gudny; Vasan, Ramachandran S.; Franceschini, Nora; Carty, Cara L.; Virtamo, Jarmo; Demissie, Serkalem; Amouyel, Philippe; Arveiler, Dominique; Heckbert, Susan R.; Ferrières, Jean; Ducimetière, Pierre; Smith, Nicholas L.; Wang, Ying A.; Siscovick, David S.; Rice, Kenneth M.; Wiklund, Per-Gunnar; Taylor, Kent D.; Evans, Alun; Kee, Frank; Rotter, Jerome I.; Karvanen, Juha; Kuulasmaa, Kari; Heiss, Gerardo; Kraft, Peter; Launer, Lenore J.; Hofman, Albert; Markus, Marcello R. P.; Rose, Lynda M.; Silander, Kaisa; Wagner, Peter; Benjamin, Emelia J.; Lohman, Kurt; Stott, David J.; Rivadeneira, Fernando; Harris, Tamara B.; Levy, Daniel; Liu, Yongmei; Rimm, Eric B.; Jukema, J. Wouter; Völzke, Henry; Ridker, Paul M.; Blankenberg, Stefan; Franco, Oscar H.; Gudnason, Vilmundur; Psaty, Bruce M.; Boerwinkle, Eric; O'Donnell, Christopher J. (Public Library of Science, 2016)Background Data are limited on genome-wide association studies (GWAS) for incident coronary heart disease (CHD). Moreover, it is not known whether genetic variants identified to date also associate with risk of CHD in ... -
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium
CREAM consortium (Springer, 2015)To identify genetic variants associated with refractive astigmatism in the general population, metaanalyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N ... -
Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia
Gialluisi, Alessandro; Andlauer, Till FM; Mirza-Schreiber, Nazanin; Moll, Kristina; Becker, Jessica; Hoffmann, Per; Ludwig, Kerstin U; Czamara, Darina; Pourcain, Beate St; Brandler, William; Honbolygo, Ferenc; Toth, Denes; Csepe, Valeria; Huguet, Guillaume; Morris, Andrew P; Hulslander, Jacqueline; Willcutt, Erik G; DeFries, John C; Olson, Richard K; Smith, Shelley D; Pennington, Bruce F; Vaessen, Anniek; Maurer, Urs; Lyytinen, Heikki; Peyrard-Janvid, Myriam; Leppänen, Paavo H.T.; Brandeis, Daniel; Bonte, Milene; Stein, John F; Talcott, Joel; Fauchereau, Fabien; Wilcke, Arndt; Francks, Clyde; Bourgeron, Thomas; Monaco, Anthony P; Ramus, Franck; Landerl, Karin; Kere, Juha; Scerri, Thomas S; Paracchini, Silvia; Fisher, Simon E; Schumacher, Johannes; Nothen, Markus M; Muller-Myhsok, Bertram; Schulte-Korne, Gerd (Nature Publishing Group, 2019)Developmental dyslexia (DD) is one of the most prevalent learning disorders, with high impact on school and psychosocial development and high comorbidity with conditions like attention-deficit hyperactivity disorder (ADHD), ... -
Genome-wide association study identifies five loci associated with lung function
E, Repapi; I, Sayers; LV, Wain; RB, Burton; T, Johnson; M, Obeidat; JH, Zhao; A, Ramasamy; G, Zhai; V, Vitart; JE, Huffman; W, Igl; E, Albrecht; P, Deloukas; J, Henderson; J, Granell; WL, McArdle; AR, Rudnicka; Consortium, Wellcome Trust Case Control; I, Barroso; RJF, Loos; NJ, Wareham; L, Mustelin; Rantanen, Taina; I, Surakka; M, Imboden; HE, Wichmann; I, Grkovic; S, Jankovic; L, Zgaga; A, Hartikainen; L, Peltonen; U, Gyllensten; Å, Johansson; G, Zaboli; H, Campbell; SH, Wild; JF, Wilson; S, Gläser; G, Homuth; H, Völzke; M, Mangino; N, Soranzo; TD, Spector; O, Polašek; I, Rudan; AF, Wright; M, Heliövaara; S, Ripatti; A, Pouta; Å, Torinsson Naluai; A, Olin; K, Torén; MN, Cooper; AL, James; LJ, Palmer; AD, Hingorani; SG, Wannamethee; PH, Whincup; GD, Smith; S, Ebrahim; TM, McKeever; ID, Pavord; AK, MacLeod; AD, Morris; DJ, Porteous; C, Cooper; E, Dennison; S, Shaheen; S, Karrasch; E, Schnabel; H, Schulz; H, Grallert; N, Bouatia-Naji; J, Delplanque; P, Froguel; JD, Blakey; Team, The NSHD Respiratory Study; JR, Britton; RW, Morris; JW, Holloway; DA, Lawlor; J, Hui; F, Nyberg; M, Jarvelin; C, Jackson; M, Kähönen; J, Kaprio; NM, Probst-Hensch; B, Koch; C, Hayward; DE, Evans; P, Elliott; DP, Strachan; IP, Hall; MD, Tobin (Nature Publishing Group, 2010)Pulmonary function measures are heritable traits that predict morbidity and mortality and define chronic obstructive pulmonary disease (COPD). We tested genome-wide association with forced expiratory volume in 1 s (FEV1) ... -
Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging
McCartney, Daniel L.; Min, Josine L.; Richmond, Rebecca C.; Lu, Ake T.; Sobczyk, Maria K.; Davies, Gail; Broer, Linda; Guo, Xiuqing; Jeong, Ayoung; Jung, Jeesun; Kasela, Silva; Katrinli, Seyma; Kuo, Pei-Lun; Matias-Garcia, Pamela R.; Mishra, Pashupati P.; Nygaard, Marianne; Palviainen, Teemu; Patki, Amit; Raffield, Laura M.; Ratliff, Scott M.; Richardson, Tom G.; Robinson, Oliver; Soerensen, Mette; Sun, Dianjianyi; Tsai, Pei-Chien; van der Zee, Matthijs D.; Walker, Rosie M.; Wang, Xiaochuan; Wang, Yunzhang; Xia, Rui; Xu, Zongli; Yao, Jie; Zhao, Wei; Correa, Adolfo; Boerwinkle, Eric; Dugué, Pierre-Antoine; Durda, Peter; Elliott, Hannah R.; Gieger, Christian; The Genetics of DNA Methylation Consortium; de Geus, Eco J. C.; Harris, Sarah E.; Hemani, Gibran; Imboden, Medea; Kähönen, Mika; Kardia, Sharon L. R.; Kresovich, Jacob K.; Li, Shengxu; Lunetta, Kathryn L.; Mangino, Massimo; Mason, Dan; McIntosh, Andrew M.; Mengel-From, Jonas; Moore, Ann Zenobia; Murabito, Joanne M.; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium; Ollikainen, Miina; Pankow, James S.; Pedersen, Nancy L.; Peters, Annette; Polidoro, Silvia; Porteous, David J.; Raitakari, Olli; Rich, Stephen S.; Sandler, Dale P.; Sillanpää, Elina; Smith, Alicia K.; Southey, Melissa C.; Strauch, Konstantin; Tiwari, Hemant; Tanaka, Toshiko; Tillin, Therese; Uitterlinden, Andre G.; Van Den Berg, David J.; van Dongen, Jenny; Wilson, James G.; Wright, John; Yet, Idil; Arnett, Donna; Bandinelli, Stefania; Bell, Jordana T.; Binder, Alexandra M.; Boomsma, Dorret I.; Chen, Wei; Christensen, Kaare; Conneely, Karen N.; Elliott, Paul; Ferrucci, Luigi; Fornage, Myriam; Hägg, Sara; Hayward, Caroline; Irvin, Marguerite; Kaprio, Jaakko; Lawlor, Deborah A.; Lehtimäki, Terho; Lohoff, Falk W.; Milani, Lili; Milne, Roger L.; Probst-Hensch, Nicole; Reiner, Alex P.; Ritz, Beate; Rotter, Jerome I.; Smith, Jennifer A.; Taylor, Jack A.; van Meurs, Joyce B. J.; Vineis, Paolo; Waldenberger, Melanie; Deary, Ian J.; Relton, Caroline L.; Horvath, Steve; Marioni, Riccardo E. (Biomed Central, 2021)Background Biological aging estimators derived from DNA methylation data are heritable and correlate with morbidity and mortality. Consequently, identification of genetic and environmental contributors to the variation ...
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