Article
A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.
Communications biology - 1 Mar 2021
Hardcastle Alison J, Liskova Petra, Bykhovskaya Yelena, McComish Bennet J, Davidson Alice E, Inglehearn Chris F, Li Xiaohui, Choquet Hélène, Habeeb Mahmoud, Lucas Sionne E M, Sahebjada Srujana, Pontikos Nikolas, Lopez Karla E Rojas, Khawaja Anthony P, Ali Manir, Dudakova Lubica, Skalicka Pavlina, Van Dooren Bart T H, Geerards Annette J M, Haudum Christoph W, Faro Valeria Lo, Tenen Abi, Simcoe Mark J, Patasova Karina, Yarrand Darioush, Yin Jie, Siddiqui Salina, Rice Aine, Farraj Layal Abi, Chen Yii-Der Ida, Rahi Jugnoo S, Krauss Ronald M, Theusch Elisabeth, Charlesworth Jac C, Szczotka-Flynn Loretta, Toomes Carmel, Meester-Smoor Magda A, Richardson Andrea J, Mitchell Paul A, Taylor Kent D, Melles Ronald B, Aldave Anthony J, Mills Richard A, Cao Ke, Chan Elsie, Daniell Mark D, Wang Jie Jin, Rotter Jerome I, Hewitt Alex W, MacGregor Stuart, Klaver Caroline C W, Ramdas Wishal D, Craig Jamie E, Iyengar Sudha K, O'Brart David, Jorgenson Eric, Baird Paul N, Rabinowitz Yaron S, Burdon Kathryn P, Hammond Chris J, Tuft Stephen J, Hysi Pirro G
Abstract excerpt
Keratoconus is characterised by reduced rigidity of the cornea with distortion and focal thinning that causes blurred vision, however, the pathogenetic mechanisms are unknown. It can lead to severe visual morbidity in children and young adults and is a common indication for corneal transplantation worldwide. Here we report the first large scale genome-wide association study of keratoconus including 4,669 cases...
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