Abstract
Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10 -5), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10 -6), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10 -4), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10 -1), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10 -2). We also confirmed significant association at three previously described loci (P < 5 × 10 â'8 for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.
| Original language | English |
|---|---|
| Pages (from-to) | 556-562 |
| Number of pages | 7 |
| Journal | Nature Genetics |
| Volume | 48 |
| Issue number | 5 |
| DOIs | |
| Publication status | Published - 4 Apr 2016 |
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Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma. / Khor, Chiea; Do, Tan; Jia, Hongyan; Nakano, Masakazu; George, Ronnie; Abu-Amero, Khalid; Duvesh, Roopam; Chen, Li; Li, Zheng; Nongpiur, Monisha; Perera, Shamira; Qiao, Chunyan; Wong, Hon-Tym; Sakai, Hiroshi; de Melo, Monica; Lee, Mei; Chan, Anita; Yakub, Azhany; Dao, Thi; Ikeda, Yoko; Perez-Grossmann, Rodolfo; Zarnowski, Tomasz; Day, Alex; Jonas, Jost; Tam, Pancy; Tran, Tuan; Ayub, Humaira; Akhtar, Farah; Michael, Shazia; Chew, Paul; Aljasim, Leyla; Dada, Tanuj; Luu, Tam; Awadalla, Mona; Kitnarong, Naris; Wanichwecharungruang, Boonsong; Aung, Yee Yee; Mohamed-Noor, Jelinar; Vijayan, Saravanan; Sripriya, Sarangapani; Husain, Rahat; Jap, Aliza; Mani, Baskaran; Goh, David; Su, Daniel; Wang, Huaizhou; Yong, Vernon; Yip, Leonard; Trinh, Tuyet; Makornwattana, Manchima; Nguyen, Thanh; Leuenberger, Edgar; Park, Ki-Ho; Wiyogo, Widya; Kumar, Rajesh; Tello, Celso; Kurimoto, Yasuo; Thapa, Suman; Pathanapitoon, Kessara; Salmon, John; Sohn, Yong Ho; Fea, Antonio; Mineo, Ozaki; Lai, Jimmy; Tantisevi, Visanee; Khaing, Chaw Chaw; Mizoguchi, Takanori; Nakano, Satoko; Kim, Chan-Yun; Tang, Guangxian; Fan, Sujie; Wu, Renyi; Meng, Hailin; Nguyen, Thi; Tran, Tien; Ueno, Morio; Martinez, Jose; Ramli, Norlina; Aung, Yin; Reyes, Rigo; Vernon, Stephen; Fang, Seng; Xie, Zhicheng; Chen, Xiao; Sim, Kar-Seng; Wong, Tina; Quek, Desmond; Venkatesh, Rangaraj; Kavitha, Srinivasan; Krishnadas, Subbaiah; Soumittra, Nagaswamy; Shantha, Balekudaru; Lim, Boon-Ang; Ogle, Jeanne; de Vasconcellos, Jose; Costa, Vital; Abe, Ricardo; de Souza, Bruno; Sng, Chelvin; Aquino, Maria; Kosior-Jarecka, Ewa; Fong, Guillermo; Tamanaja, Vania; Fujita, Ricardo; Jiang, Yuzhen; Waseem, Naushin; Low, Sancy; Pham, Huan; Al Shahwan, Sami; Craven, E; Khan, Muhammad; Dada, Rrima; Mohanty, Kuldeep; Faiq, Muneeb; Hewitt, Alex; Burdon, Kathryn; Gan, Eng; Prutthipongsit, Anuwat; Patthanathamrongkasem, Thipnapa; Catacutan, Mary Ann; Felarca, Irene; Liao, Chona; Rusmayani, Emma; Istiantoro, Vira; Consolandi, Giulia; Pignata, Giulia; Lavia, Carlo; Rojanapongpun, Prin; Mangkornkanokpong, Lerprat; Chansangpetch, Sunee; Chan, Jonathon; Choy, Bonnie; Shum, Jennifer; Than, Hlaing; Oo, Khin; Han, Aye; Yong, Victor; Ng, Xiao; Goh, Shuang; Chong, Yaan; Hibberd, Martin; Seielstad, Mark; Png, Eileen; Dunstan, Sarah; van Vinh Chau, Nguyen; Bei, Jin-Xin; Zeng, Yi-Xin; Karkey, Abhilasha; Basnyat, Buddha; Pasutto, Francesca; Paoli, Daniela; Frezzotti, Paolo; Wang, Jie; Mitchell, Paul; Fingert, John; Allingham, R; Hauser, Michael; Lim, Soon; Chew, Soo; Ebstein, Richard; Sakuntabhai, Anavaj; Park, Kyu; Ahn, Jeeyun; Boland, Greet; Snippe, Harm; Stead, Richard; Quino, Raquel; Zaw, Su; Lukasik, Urszula; Shetty, Rohit; Zahari, Mimiwati; Bae, Hyoung; Oo, Nay Lin; Kubota, Toshiaki; Manassakorn, Anita; Ho, Wing; Dallorto, Laura; Hwang, Young; Kiire, Christine; Kuroda, Masako; Djamal, Zeiras; Peregrino, Jovell; Ghosh, Arkasubhra; Jeoung, Jin; Hoang, Tung; Srisamran, Nuttamon; Sandragasu, Thayanithi; Set, Saw; Doan, Vi; Bhattacharya, Shomi; Ho, Ching-Lin; Tan, Donald; Sihota, Ramanjit; Loon, Seng-Chee; Mori, Kazuhiko; Kinoshita, Shigeru; den Hollander, Anneke; Qamar, Raheel; Wang, Ya Xing; Teo, Yik Y; Tai, E-Shyong; Hartleben-Matkin, Curt; Lozano-Giral, David; Saw, Seang Mei; Cheng, Ching Yu; Zenteno, Juan; Pang, Chi Pui; Bui, Huong; Hee, Owen; Craig, Jamie; Edward, Deepak; Yonahara, Michiko; Neto, Jamil; Guevara-Fujita, Maria; Xu, Liang; Ritch, Robert; Tajudin, Liza-Sharmini; Wong, Tien; Al-Obeidan, Saleh; Hon, Do; Sundaresan, Periasamy; Tham, Clement; Foster, Paul; Vijaya, Lingam; Tashiro, Kei; Vithana, Eranga; Wang, Ningli; Aung, Tin.
In: Nature Genetics, Vol. 48, No. 5, 04.04.2016, p. 556-562.Research output: Contribution to journal › Article
TY - JOUR
T1 - Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
AU - Khor, Chiea
AU - Do, Tan
AU - Jia, Hongyan
AU - Nakano, Masakazu
AU - George, Ronnie
AU - Abu-Amero, Khalid
AU - Duvesh, Roopam
AU - Chen, Li
AU - Li, Zheng
AU - Nongpiur, Monisha
AU - Perera, Shamira
AU - Qiao, Chunyan
AU - Wong, Hon-Tym
AU - Sakai, Hiroshi
AU - de Melo, Monica
AU - Lee, Mei
AU - Chan, Anita
AU - Yakub, Azhany
AU - Dao, Thi
AU - Ikeda, Yoko
AU - Perez-Grossmann, Rodolfo
AU - Zarnowski, Tomasz
AU - Day, Alex
AU - Jonas, Jost
AU - Tam, Pancy
AU - Tran, Tuan
AU - Ayub, Humaira
AU - Akhtar, Farah
AU - Michael, Shazia
AU - Chew, Paul
AU - Aljasim, Leyla
AU - Dada, Tanuj
AU - Luu, Tam
AU - Awadalla, Mona
AU - Kitnarong, Naris
AU - Wanichwecharungruang, Boonsong
AU - Aung, Yee Yee
AU - Mohamed-Noor, Jelinar
AU - Vijayan, Saravanan
AU - Sripriya, Sarangapani
AU - Husain, Rahat
AU - Jap, Aliza
AU - Mani, Baskaran
AU - Goh, David
AU - Su, Daniel
AU - Wang, Huaizhou
AU - Yong, Vernon
AU - Yip, Leonard
AU - Trinh, Tuyet
AU - Makornwattana, Manchima
AU - Nguyen, Thanh
AU - Leuenberger, Edgar
AU - Park, Ki-Ho
AU - Wiyogo, Widya
AU - Kumar, Rajesh
AU - Tello, Celso
AU - Kurimoto, Yasuo
AU - Thapa, Suman
AU - Pathanapitoon, Kessara
AU - Salmon, John
AU - Sohn, Yong Ho
AU - Fea, Antonio
AU - Mineo, Ozaki
AU - Lai, Jimmy
AU - Tantisevi, Visanee
AU - Khaing, Chaw Chaw
AU - Mizoguchi, Takanori
AU - Nakano, Satoko
AU - Kim, Chan-Yun
AU - Tang, Guangxian
AU - Fan, Sujie
AU - Wu, Renyi
AU - Meng, Hailin
AU - Nguyen, Thi
AU - Tran, Tien
AU - Ueno, Morio
AU - Martinez, Jose
AU - Ramli, Norlina
AU - Aung, Yin
AU - Reyes, Rigo
AU - Vernon, Stephen
AU - Fang, Seng
AU - Xie, Zhicheng
AU - Chen, Xiao
AU - Sim, Kar-Seng
AU - Wong, Tina
AU - Quek, Desmond
AU - Venkatesh, Rangaraj
AU - Kavitha, Srinivasan
AU - Krishnadas, Subbaiah
AU - Soumittra, Nagaswamy
AU - Shantha, Balekudaru
AU - Lim, Boon-Ang
AU - Ogle, Jeanne
AU - de Vasconcellos, Jose
AU - Costa, Vital
AU - Abe, Ricardo
AU - de Souza, Bruno
AU - Sng, Chelvin
AU - Aquino, Maria
AU - Kosior-Jarecka, Ewa
AU - Fong, Guillermo
AU - Tamanaja, Vania
AU - Fujita, Ricardo
AU - Jiang, Yuzhen
AU - Waseem, Naushin
AU - Low, Sancy
AU - Pham, Huan
AU - Al Shahwan, Sami
AU - Craven, E
AU - Khan, Muhammad
AU - Dada, Rrima
AU - Mohanty, Kuldeep
AU - Faiq, Muneeb
AU - Hewitt, Alex
AU - Burdon, Kathryn
AU - Gan, Eng
AU - Prutthipongsit, Anuwat
AU - Patthanathamrongkasem, Thipnapa
AU - Catacutan, Mary Ann
AU - Felarca, Irene
AU - Liao, Chona
AU - Rusmayani, Emma
AU - Istiantoro, Vira
AU - Consolandi, Giulia
AU - Pignata, Giulia
AU - Lavia, Carlo
AU - Rojanapongpun, Prin
AU - Mangkornkanokpong, Lerprat
AU - Chansangpetch, Sunee
AU - Chan, Jonathon
AU - Choy, Bonnie
AU - Shum, Jennifer
AU - Than, Hlaing
AU - Oo, Khin
AU - Han, Aye
AU - Yong, Victor
AU - Ng, Xiao
AU - Goh, Shuang
AU - Chong, Yaan
AU - Hibberd, Martin
AU - Seielstad, Mark
AU - Png, Eileen
AU - Dunstan, Sarah
AU - van Vinh Chau, Nguyen
AU - Bei, Jin-Xin
AU - Zeng, Yi-Xin
AU - Karkey, Abhilasha
AU - Basnyat, Buddha
AU - Pasutto, Francesca
AU - Paoli, Daniela
AU - Frezzotti, Paolo
AU - Wang, Jie
AU - Mitchell, Paul
AU - Fingert, John
AU - Allingham, R
AU - Hauser, Michael
AU - Lim, Soon
AU - Chew, Soo
AU - Ebstein, Richard
AU - Sakuntabhai, Anavaj
AU - Park, Kyu
AU - Ahn, Jeeyun
AU - Boland, Greet
AU - Snippe, Harm
AU - Stead, Richard
AU - Quino, Raquel
AU - Zaw, Su
AU - Lukasik, Urszula
AU - Shetty, Rohit
AU - Zahari, Mimiwati
AU - Bae, Hyoung
AU - Oo, Nay Lin
AU - Kubota, Toshiaki
AU - Manassakorn, Anita
AU - Ho, Wing
AU - Dallorto, Laura
AU - Hwang, Young
AU - Kiire, Christine
AU - Kuroda, Masako
AU - Djamal, Zeiras
AU - Peregrino, Jovell
AU - Ghosh, Arkasubhra
AU - Jeoung, Jin
AU - Hoang, Tung
AU - Srisamran, Nuttamon
AU - Sandragasu, Thayanithi
AU - Set, Saw
AU - Doan, Vi
AU - Bhattacharya, Shomi
AU - Ho, Ching-Lin
AU - Tan, Donald
AU - Sihota, Ramanjit
AU - Loon, Seng-Chee
AU - Mori, Kazuhiko
AU - Kinoshita, Shigeru
AU - den Hollander, Anneke
AU - Qamar, Raheel
AU - Wang, Ya Xing
AU - Teo, Yik Y
AU - Tai, E-Shyong
AU - Hartleben-Matkin, Curt
AU - Lozano-Giral, David
AU - Saw, Seang Mei
AU - Cheng, Ching Yu
AU - Zenteno, Juan
AU - Pang, Chi Pui
AU - Bui, Huong
AU - Hee, Owen
AU - Craig, Jamie
AU - Edward, Deepak
AU - Yonahara, Michiko
AU - Neto, Jamil
AU - Guevara-Fujita, Maria
AU - Xu, Liang
AU - Ritch, Robert
AU - Tajudin, Liza-Sharmini
AU - Wong, Tien
AU - Al-Obeidan, Saleh
AU - Hon, Do
AU - Sundaresan, Periasamy
AU - Tham, Clement
AU - Foster, Paul
AU - Vijaya, Lingam
AU - Tashiro, Kei
AU - Vithana, Eranga
AU - Wang, Ningli
AU - Aung, Tin
PY - 2016/4/4
Y1 - 2016/4/4
N2 - Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10 -5), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10 -6), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10 -4), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10 -1), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10 -2). We also confirmed significant association at three previously described loci (P < 5 × 10 â'8 for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.
AB - Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Australia, Europe, North America, and South America. We observed significant evidence of disease association at five new genetic loci upon meta-analysis of all patient collections. These loci are at EPDR1 rs3816415 (odds ratio (OR) = 1.24, P = 5.94 × 10 -5), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10 -6), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10 -4), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10 -1), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10 -2). We also confirmed significant association at three previously described loci (P < 5 × 10 â'8 for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.
U2 - 10.1038/ng.3540
DO - 10.1038/ng.3540
M3 - Article
VL - 48
SP - 556
EP - 562
JO - Nature Genetics
JF - Nature Genetics
SN - 1061-4036
IS - 5
ER -