Rare variant analyses across multiethnic cohorts identify novel genes for refractive error
Musolf, A. M., Haarman, A. E. G., Luben, R. N., Ong, J.-S., Patasova, K., Trapero, R. H., Marsh, J., Jain, I., Jain, R., Wang, P. Z., Lewis, D. D., Tedja, M. S., Iglesias, A. I., Li, H., Cowan, C. S., Baird, P. N., Veluchamy, A. B., Burdon, K. P., Campbell, H., . . . Bailey-Wilson, J. E. (2023). Rare variant analyses across multiethnic cohorts identify novel genes for refractive error. Communications Biology, 6, Article 6. https://doi.org/10.1038/s42003-022-04323-7
Julkaistu sarjassa
Communications BiologyTekijät
Li, Qing |
Päivämäärä
2023Tekijänoikeudet
© Authors, 2023
Refractive error, measured here as mean spherical equivalent (SER), is a complex eye condition caused by both genetic and environmental factors. Individuals with strong positive or negative values of SER require spectacles or other approaches for vision correction. Common genetic risk factors have been identified by genome-wide association studies (GWAS), but a great part of the refractive error heritability is still missing. Some of this heritability may be explained by rare variants (minor allele frequency [MAF] ≤ 0.01.). We performed multiple gene-based association tests of mean Spherical Equivalent with rare variants in exome array data from the Consortium for Refractive Error and Myopia (CREAM). The dataset consisted of over 27,000 total subjects from five cohorts of Indo-European and Eastern Asian ethnicity. We identified 129 unique genes associated with refractive error, many of which were replicated in multiple cohorts. Our best novel candidates included the retina expressed PDCD6IP, the circadian rhythm gene PER3, and P4HTM, which affects eye morphology. Future work will include functional studies and validation. Identification of genes contributing to refractive error and future understanding of their function may lead to better treatment and prevention of refractive errors, which themselves are important risk factors for various blinding conditions.
...
Julkaisija
Nature Publishing GroupISSN Hae Julkaisufoorumista
2399-3642Asiasanat
Julkaisu tutkimustietojärjestelmässä
https://converis.jyu.fi/converis/portal/detail/Publication/164896043
Metadata
Näytä kaikki kuvailutiedotKokoelmat
- Liikuntatieteiden tiedekunta [3123]
Lisätietoja rahoituksesta
Open Access funding provided by the National Institutes of Health (NIH).Lisenssi
Samankaltainen aineisto
Näytetään aineistoja, joilla on samankaltainen nimeke tai asiasanat.
-
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
Shrine, Nick; Izquierdo, Abril G.; Chen, Jing; Packer, Richard; Hall, Robert J.; Guyatt, Anna L.; Batini, Chiara; Thompson, Rebecca J.; Pavuluri, Chandan; Malik, Vidhi; Hobbs, Brian D.; Moll, Matthew; Kim, Wonji; Tal-Singer, Ruth; Bakke, Per; Fawcett, Katherine A.; John, Catherine; Coley, Kayesha; Piga, Noemi Nicole; Pozarickij, Alfred; Lin, Kuang; Millwood, Iona Y.; Chen, Zhengming; Li, Liming; Wijnant, Sara R. A.; Lahousse, Lies; Brusselle, Guy; Uitterlinden, Andre G.; Manichaikul, Ani; Oelsner, Elizabeth C.; Rich, Stephen S.; Barr, R. Graham; Kerr, Shona M.; Vitart, Veronique; Brown, Michael R.; Wielscher, Matthias; Imboden, Medea; Jeong, Ayoung; Bartz, Traci M.; Gharib, Sina A.; Flexeder, Claudia; Karrasch, Stefan; Gieger, Christian; Peters, Annette; Stubbe, Beate; Hu, Xiaowei; Ortega, Victor E.; Meyers, Deborah A.; Bleecker, Eugene R.; Gabriel, Stacey B.; Gupta, Namrata; Smith, Albert Vernon; Luan, Jian’an; Zhao, Jing-Hua; Hansen, Ailin F.; Langhammer, Arnulf; Willer, Cristen; Bhatta, Laxmi; Porteous, David; Smith, Blair H.; Campbell, Archie; Sofer, Tamar; Lee, Jiwon; Daviglus, Martha L.; Yu, Bing; Lim, Elise; Xu, Hanfei; O’Connor, George T.; Thareja, Gaurav; Albagha, Omar M. E.; Ismail, Said I.; Al-Muftah, Wadha; Badji, Radja; Mbarek, Hamdi; Darwish, Dima; Fadl, Tasnim; Yasin, Heba; Ennaifar, Maryem; Abdellatif, Rania; Alkuwari, Fatima; Alvi, Muhammad; Al-Sarraj, Yasser; Saad, Chadi; Althani, Asmaa; Fethnou, Eleni; Qafoud, Fatima; Alkhayat, Eiman; Afifi, Nahla; Tomei, Sara; Liu, Wei; Lorenz, Stephan; Syed, Najeeb; Almabrazi, Hakeem; Vempalli, Fazulur Rehaman; Temanni, Ramzi; Saqri Tariq, Abu; Khatib, Mohammedhusen; Hamza, Mehshad; Zaid Tariq, Abu; El Khouly, Ahmed; Pathare, Tushar; Poolat, Shafeeq; Al-Ali, Rashid; Al-Khodor, Souhaila; Alshafai, Mashael; Badii, Ramin; Chouchane, Lotfi; Estivill, Xavier; Fakhro, Khalid; Mokrab, Younes; Puthen, Jithesh V.; Tatari, Zohreh; Suhre, Karsten; Granell, Raquel; Faquih, Tariq O.; Hiemstra, Pieter S.; Slats, Annelies M.; Mullin, Benjamin H.; Hui, Jennie; James, Alan; Beilby, John; Patasova, Karina; Hysi, Pirro; Koskela, Jukka T.; Wyss, Annah B.; Jin, Jianping; Sikdar, Sinjini; Lee, Mikyeong; May-Wilson, Sebastian; Pirastu, Nicola; Kentistou, Katherine A.; Joshi, Peter K.; Timmers, Paul R. H. J.; Williams, Alexander T.; Free, Robert C.; Wang, Xueyang; Morrison, John L.; Gilliland, Frank D.; Chen, Zhanghua; Wang, Carol A.; Foong, Rachel E.; Harris, Sarah E.; Taylor, Adele; Redmond, Paul; Cook, James P.; Mahajan, Anubha; Lind, Lars; Palviainen, Teemu; Lehtimäki, Terho; Raitakari, Olli T.; Kaprio, Jaakko; Rantanen, Taina; Pietiläinen, Kirsi H.; Cox, Simon R.; Pennell, Craig E.; Hall, Graham L.; Gauderman, W. James; Brightling, Chris; Wilson, James F.; Vasankari, Tuula; Laitinen, Tarja; Salomaa, Veikko; Mook-Kanamori, Dennis O.; Timpson, Nicholas J.; Zeggini, Eleftheria; Dupuis, Josée; Hayward, Caroline; Brumpton, Ben; Langenberg, Claudia; Weiss, Stefan; Homuth, Georg; Schmidt, Carsten Oliver; Probst-Hensch, Nicole; Jarvelin, Marjo-Riitta; Morrison, Alanna C.; Polasek, Ozren; Rudan, Igor; Lee, Joo-Hyeon; Sayers, Ian; Rawlins, Emma L.; Dudbridge, Frank; Silverman, Edwin K.; Strachan, David P.; Walters, Robin G.; Morris, Andrew P.; London, Stephanie J.; Cho, Michael H.; Wain, Louise V.; Hall, Ian P.; Tobin, Martin D. (Nature Publishing Group, 2023)Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 ... -
Genome-wide association studies highlight novel risk loci for septal defects and left-sided congenital heart defects
Broberg, Martin; Ampuja, Minna; Jones, Samuel; Ojala, Tiina; Rahkonen, Otto; Kivelä, Riikka; Priest, James; FinnGen; Palotie, Aarno; Ollila, Hanna M.; Helle, Emmi (BioMed Central, 2024)Background Congenital heart defects (CHD) are structural defects of the heart affecting approximately 1% of newborns. They exhibit low penetrance and non-Mendelian patterns of inheritance as varied and complex traits. ... -
Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people
Eising, Else; Mirza-Schreiber, Nazanin; de Zeeuw, Eveline L.; Wang, Carol A.; Truong, Dongnhu T.; Allegrini, Andrea G.; Shapland, Chin Yang; Zhu, Gu; Wigg, Karen G.; Gerritse, Margot L.; Molz, Barbara; Alagöz, Gökberk; Gialluisi, Alessandro; Abbondanza, Filippo; Rimfeld, Kaili; van Donkelaar, Marjolein; Liao, Zhijie; Jansen, Philip R.; Andlauer, Till F. M.; Bates, Timothy C.; Bernard, Manon; Blokland, Kirsten; Bonte, Milene; Børglum, Anders D.; Bourgeron, Thomas; Brandeis, Daniel; Ceroni, Fabiola; Csépe, Valéria; Dale, Philip S.; de Jong, Peter F.; DeFries, John C.; Démonet, Jean-François; Demontis, Ditte; Feng, Yu; Gordon, Scott D.; Guger, Sharon L.; Hayiou-Thomas, Marianna E.; Hernández-Cabrera, Juan A.; Hottenga, Jouke-Jan; Hulme, Charles; Kere, Juha; Kerr, Elizabeth N.; Koomar, Tanner; Landerl, Karin; Leonard, Gabriel T.; Lovett, Maureen W.; Lyytinen, Heikki; Martin, Nicholas G.; Martinelli, Angela; Maurer, Urs; Michaelson, Jacob J.; Moll, Kristina; Monaco, Anthony P.; Morgan, Angela T.; Nöthen, Markus M.; Pausova, Zdenka; Pennell, Craig E.; Pennington, Bruce F.; Price, Kaitlyn M.; Rajagopal, Veera M.; Ramus, Franck; Richer, Louis; Simpson, Nuala H.; Smith, Shelley D.; Snowling, Margaret J.; Stein, John; Strug, Lisa J.; Talcott, Joel B.; Tiemeier, Henning; van der Schroeff, Marc P.; Verhoef, Ellen; Watkins, Kate E.; Wilkinson, Margaret; Wright, Margaret J.; Barr, Cathy L.; Boomsma, Dorret I.; Carreiras, Manuel; Franken, Marie-Christine J.; Gruen, Jeffrey R.; Luciano, Michelle; Müller-Myhsok, Bertram; Newbury, Dianne F.; Olson, Richard K.; Paracchini, Silvia; Paus, Tomáš; Plomin, Robert; Reilly, Sheena; Schulte-Körne, Gerd; Tomblin, J. Bruce; van Bergen, Elsje; Whitehouse, Andrew J. O.; Willcutt, Erik G.; St Pourcain, Beate; Francks, Clyde; Fisher, Simon E. (National Academy of Sciences, 2022)The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to ... -
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia
Verhoeven, Virginie; Hysi, Pirro; Wojciechowski, Robert; QiaoFan; Guggenheim, Jeremy; Höhn, Rene; Macgregor, Stuart; Hewitt, Alex; Nag, Abhishek; Cheng, Ching-Yu; Yonova-Doing, Ekaterina; Zhou, Xin; Ikram, Kamran; Buitendijk, Gabrielle; McMahon, George; Kemp, John; Pourcain, Beate; Simpson, Claire; Mäkelä, Kari-Matti; Pärssinen, Olavi (Nature Publishing Group, 2013)Refractive error is the most common eye disorder worldwide and is a prominent cause of blindness. Myopia affects over 30% of Western populations and up to 80% of Asians. The CREAM consortium conducted genome-wide meta-analyses, ... -
Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error
Fan, Qiao; Pozarickij, Alfred; Tan, Nicholas Y. Q.; Guo, Xiaobo; Verhoeven, Virginie J. M.; Vitart, Veronique; Guggenheim, Jeremy A.; Miyake, Masahiro; Tideman, J. Willem L.; Khawaja, Anthony P.; Zhang, Liang; MacGregor, Stuart; Höhn, René; Chen, Peng; Biino, Ginevra; Wedenoja, Juho; Saffari, Seyed Ehsan; Tedja, Milly S.; Xie, Jing; Lanca, Carla; Wang, Ya Xing; Sahebjada, Srujana; Mazur, Johanna; Mirshahi, Alireza; Martin, Nicholas G.; Yazar, Seyhan; Pennell, Craig E.; Yap, Maurice; Haarman, Annechien E. G.; Enthoven, Clair A.; Polling, JanRoelof; Bailey-Wilson, Joan E.; Veluchamy, Amutha Barathi; Burdon, Kathryn P.; Campbell, Harry; Chen, Li Jia; Chew, Emily Y.; Craig, Jamie E.; Cumberland, Phillippa M.; Deangelis, Margaret M.; Delcourt, Cécile; Ding, Xiaohu; Evans, David M.; Gharahkhani, Puya; Iglesias, Adriana I.; Haller, Toomas; Han, Xikun; Hoang, Quan; Igo, Robert P.; Iyengar, Sudha K.; Kähönen, Mika; Kaprio, Jaakko; Klein, Barbara E.; Klein, Ronald; Lass, Jonathan H.; Lee, Kris; Lehtimäki, Terho; Lewis, Deyana D.; Li, Qing; Li, Shi-Ming; Lyytikäinen, Leo-Pekka; Meguro, Akira; Metspalu, Andres; Middlebrooks, Candace D.; Mizuki, Nobuhisa; Musolf, Anthony M.; Nickels, Stefan; Oexle, Konrad; Pang, Chi Pui; Paterson, Andrew D.; Rahi, Jugnoo S.; Raitakari, Olli; Rudan, Igor; Stambolian, Dwight; Simpson, Claire L.; Wang, Ningli; Bin Wei, Wen; Williams, Katie M.; Wilson, James F.; Wojciechowski, Robert; Yamashiro, Kenji; Yam, Jason C. S.; Zhou, Xiangtian; Aslam, Tariq; Barman, Sarah A.; Barrett, Jenny H.; Bishop, Paul; Blows, Peter; Bunce, Catey; Carare, Roxana O.; Chakravarthy, Usha; Chan, Michelle; Chua, Sharon Y. L.; Crabb, David P.; Cumberland, Philippa M.; Day, Alexander; Desai, Parul; Dhillon, Bal; Dick, Andrew D.; Egan, Cathy; Ennis, Sarah; Fruttiger, Marcus; Gallacher, John E. J.; Garway-Heath, David F.; Gibson, Jane; Gore, Dan; Hardcastle, Alison; Harding, Simon P.; Hogg, Ruth E.; Keane, Pearse A.; Khaw, Sir Peng T.; Lascaratos, Gerassimos; Lotery, Andrew J.; Macgillivray, Tom; Mackie, Sarah; Martin, Keith; McGaughey, Michelle; McGuinness, Bernadette; McKay, Gareth J.; McKibbin, Martin; Mitry, Danny; Moore, Tony; Morgan, James E.; Muthy, Zaynah A.; O’Sullivan, Eoin; Owen, Chris G.; Patel, Praveen; Paterson, Euan; Peto, Tunde; Petzold, Axel; Rahi, Jugnoo S.; Rudnikca, Alicja R.; Self, Jay; Sivaprasad, Sobha; Steel, David; Stratton, Irene; Strouthidis, Nicholas; Sudlow, Cathie; Thomas, Dhanes; Trucco, Emanuele; Tufail, Adnan; Vernon, Stephen A.; Viswanathan, Ananth C.; Williams, Katie; Woodside, Jayne V.; Yates, Max M.; Yip, Jennifer; Zheng, Yalin; Hewitt, Alex W.; Jaddoe, Vincent W. V.; van Duijn, Cornelia M.; Hayward, Caroline; Polasek, Ozren; Tai, E-Shyong; Yoshikatsu, Hosoda; Hysi, Pirro G.; Young, Terri L.; Tsujikawa, Akitaka; Wang, Jie Jing; Mitchell, Paul; Pfeiffer, Norbert; Pärssinen, Olavi; Foster, Paul J.; Fossarello, Maurizio; Yip, Shea Ping; Williams, Cathy; Hammond, Christopher J.; Jonas, Jost B.; He, Mingguang; Mackey, David A.; Wong, Tien-Yin; Klaver, Caroline C. W.; Saw, Seang-Mei; Baird, Paul N.; Cheng, Ching-Yu (Nature Publishing Group, 2020)Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature ...
Ellei toisin mainittu, julkisesti saatavilla olevia JYX-metatietoja (poislukien tiivistelmät) saa vapaasti uudelleenkäyttää CC0-lisenssillä.