Rare single nucleotide variants in COL5A1 promoter do not play a major role in keratoconus susceptibility associated with rs1536482.
Bmc Ophthalmology
Skorodumova, Liubov O LO; Belodedova, Alexandra V AV; Sharova, Elena I EI; Zakharova, Elena S ES; Iulmetova, Liliia N LN; Bikbov, Mukharram M MM; Usubov, Emin L EL; Antonova, Olga P OP; Selezneva, Oksana V OV; Levchenko, Anastasia A; Fedorenko, Olga Yu OY; Ivanova, Svetlana A SA; Gainetdinov, Raul R RR; Malyugin, Boris E BE
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.
Nature Communications
Iglesias, Adriana I AI; Mishra, Aniket A; Vitart, Veronique V; Bykhovskaya, Yelena Y; Höhn, René R; Springelkamp, Henriët H; Cuellar-Partida, Gabriel G; Gharahkhani, Puya P; Bailey, Jessica N Cooke JNC; Willoughby, Colin E CE; Li, Xiaohui X; Yazar, Seyhan S; Nag, Abhishek A; Khawaja, Anthony P AP; Polašek, Ozren O; Siscovick, David D; Mitchell, Paul P; Tham, Yih Chung YC; Haines, Jonathan L JL; Kearns, Lisa S LS; Hayward, Caroline C; Shi, Yuan Y; van Leeuwen, Elisabeth M EM; Taylor, Kent D KD; , ; Bonnemaijer, Pieter P; Rotter, Jerome I JI; Martin, Nicholas G NG; Zeller, Tanja T; Mills, Richard A RA; Souzeau, Emmanuelle E; Staffieri, Sandra E SE; Jonas, Jost B JB; Schmidtmann, Irene I; Boutin, Thibaud T; Kang, Jae H JH; Lucas, Sionne E M SEM; Wong, Tien Yin TY; Beutel, Manfred E ME; Wilson, James F JF; , ; , ; Uitterlinden, André G AG; Vithana, Eranga N EN; Foster, Paul J PJ; Hysi, Pirro G PG; Hewitt, Alex W AW; Khor, Chiea Chuen CC; Pasquale, Louis R LR; Montgomery, Grant W GW; Klaver, Caroline C W CCW; Aung, Tin T; Pfeiffer, Norbert N; Mackey, David A DA; Hammond, Christopher J CJ; Cheng, Ching-Yu CY; Craig, Jamie E JE; Rabinowitz, Yaron S YS; Wiggs, Janey L JL; Burdon, Kathryn P KP; van Duijn, Cornelia M CM; MacGregor, Stuart S
Genetic associations for keratoconus: a systematic review and meta-analysis.
Scientific Reports
Rong, Shi Song SS; Ma, Sarah Tsz Ue STU; Yu, Xin Ting XT; Ma, Li L; Chu, Wai Kit WK; Chan, Tommy Chung Yan TCY; Wang, Yu Meng YM; Young, Alvin L AL; Pang, Chi Pui CP; Jhanji, Vishal V; Chen, Li Jia LJ
Genome-wide association study identifies WNT7B as a novel locus for central corneal thickness in Latinos.
Human Molecular Genetics
Gao, Xiaoyi X; Nannini, Drew R DR; Corrao, Kristen K; Torres, Mina M; Chen, Yii-Der I YI; Fan, Bao J BJ; Wiggs, Janey L JL; , ; Taylor, Kent D KD; Gauderman, W James WJ; Rotter, Jerome I JI; Varma, Rohit R
Genetic association of COL5A1 variants in keratoconus patients suggests a complex connection between corneal thinning and keratoconus.
Investigative Ophthalmology & Visual Science
Li, Xiaohui X; Bykhovskaya, Yelena Y; Canedo, Ana Laura Caiado AL; Haritunians, Talin T; Siscovick, David D; Aldave, Anthony J AJ; Szczotka-Flynn, Loretta L; Iyengar, Sudha K SK; Rotter, Jerome I JI; Taylor, Kent D KD; Rabinowitz, Yaron S YS
A genome-wide association study of central corneal thickness in Latinos.
Investigative Ophthalmology & Visual Science
Gao, Xiaoyi X; Gauderman, W James WJ; Liu, Yutao Y; Marjoram, Paul P; Torres, Mina M; Haritunians, Talin T; Kuo, Jane Z JZ; Chen, Yii-Der I YD; Allingham, R Rand RR; Hauser, Michael A MA; Taylor, Kent D KD; Rotter, Jerome I JI; Varma, Rohit R
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
Nature Genetics
Lu, Yi Y; Vitart, Veronique V; Burdon, Kathryn P KP; Khor, Chiea Chuen CC; Bykhovskaya, Yelena Y; Mirshahi, Alireza A; Hewitt, Alex W AW; Koehn, Demelza D; Hysi, Pirro G PG; Ramdas, Wishal D WD; Zeller, Tanja T; Vithana, Eranga N EN; Cornes, Belinda K BK; Tay, Wan-Ting WT; Tai, E Shyong ES; Cheng, Ching-Yu CY; Liu, Jianjun J; Foo, Jia-Nee JN; Saw, Seang Mei SM; Thorleifsson, Gudmar G; Stefansson, Kari K; Dimasi, David P DP; Mills, Richard A RA; Mountain, Jenny J; Ang, Wei W; Hoehn, René R; Verhoeven, Virginie J M VJ; Grus, Franz F; Wolfs, Roger R; Castagne, Raphaële R; Lackner, Karl J KJ; Springelkamp, Henriët H; Yang, Jian J; Jonasson, Fridbert F; Leung, Dexter Y L DY; Chen, Li J LJ; Tham, Clement C Y CC; Rudan, Igor I; Vatavuk, Zoran Z; Hayward, Caroline C; Gibson, Jane J; Cree, Angela J AJ; MacLeod, Alex A; Ennis, Sarah S; Polasek, Ozren O; Campbell, Harry H; Wilson, James F JF; Viswanathan, Ananth C AC; Fleck, Brian B; Li, Xiaohui X; Siscovick, David D; Taylor, Kent D KD; Rotter, Jerome I JI; Yazar, Seyhan S; Ulmer, Megan M; Li, Jun J; Yaspan, Brian L BL; Ozel, Ayse B AB; Richards, Julia E JE; Moroi, Sayoko E SE; Haines, Jonathan L JL; Kang, Jae H JH; Pasquale, Louis R LR; Allingham, R Rand RR; Ashley-Koch, Allison A; , ; Mitchell, Paul P; Wang, Jie Jin JJ; Wright, Alan F AF; Pennell, Craig C; Spector, Timothy D TD; Young, Terri L TL; Klaver, Caroline C W CC; Martin, Nicholas G NG; Montgomery, Grant W GW; Anderson, Michael G MG; Aung, Tin T; Willoughby, Colin E CE; Wiggs, Janey L JL; Pang, Chi P CP; Thorsteinsdottir, Unnur U; Lotery, Andrew J AJ; Hammond, Christopher J CJ; van Duijn, Cornelia M CM; Hauser, Michael A MA; Rabinowitz, Yaron S YS; Pfeiffer, Norbert N; Mackey, David A DA; Craig, Jamie E JE; Macgregor, Stuart S; Wong, Tien Y TY
Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.
Investigative Ophthalmology & Visual Science
Ulmer, Megan M; Li, Jun J; Yaspan, Brian L BL; Ozel, Ayse Bilge AB; Richards, Julia E JE; Moroi, Sayoko E SE; Hawthorne, Felicia F; Budenz, Donald L DL; Friedman, David S DS; Gaasterland, Douglas D; Haines, Jonathan J; Kang, Jae H JH; Lee, Richard R; Lichter, Paul P; Liu, Yutao Y; Pasquale, Louis R LR; Pericak-Vance, Margaret M; Realini, Anthony A; Schuman, Joel S JS; Singh, Kuldev K; Vollrath, Douglas D; Weinreb, Robert R; Wollstein, Gadi G; Zack, Donald J DJ; Zhang, Kang K; Young, Terri T; Allingham, R Rand RR; Wiggs, Janey L JL; Ashley-Koch, Allison A; Hauser, Michael A MA