Artículos de revistas
Genome-wide Association Study Identifies Five New Susceptibility Loci For Primary Angle Closure Glaucoma
Registro en:
1546-1718
Nature Genetics. NATURE PUBLISHING GROUP, n. 48, n. 5, p. 556 - 562.
1061-4036
WOS:000374834100016
10.1038/ng.3540
Autor
Khor
CC; Do
T; Jia
H; Nakano
M; George
R; Abu-Amero
K; Duvesh
R; Chen
LJ; Li
Z; Nongpiur
ME; Perera
SA; Qiao
CY; Wong
HT; Sakai
H; de Melo
MB; Lee
MC; Chan
AS; Azhany
Y; Dao
TLH; Ikeda
Y; Perez-Grossmann
RA; Zarnowski
T; Day
AC; Jonas
JB; Tam
POS; Tran
TA; Ayub
H; Akhtar
F; Micheal
S; Chew
PTK; Aljasim
LA; Dada
T; Luu
TT; Awadalla
MS; Kitnarong
N; Wanichwecharungruang
B; Aung
YY; Mohamed-Noor
J; Vijayan
S; Sarangapani
S; Husain
R; Jap
A; Baskaran
M; Goh
D; Su
DH; Wang
HZ; Yong
VK; Yip
LW; Trinh
TB; Makornwattana
M; Nguyen
TT; Leuenberger
EU; Park
KH; Wiyogo
WA; Kumar
RS; Tello
C; Kurimoto
Y; Thapa
SS; Pathanapitoon
K; Salmon
JF; Sohn
YH; Fea
A; Ozaki
M; Lai
JSM; Tantisevi
V; Khaing
CC; Mizoguchi
T; Nakano
S; Kim
CY; Tang
GX; Fan
SJ; Wu
RY; Meng
HL; Nguyen
TTG; Tran
TD; Ueno
M; Martinez
JM; Ramli
N; Aung
YM; Reyes
RD; Vernon
SA; Fang
SK; Xie
ZC; Chen
XY; Foo
JN; Sim
KS; Wong
TT; Quek
DT; Venkatesh
R; Kavitha
S; Krishnadas
SR; Soumittra
N; Shantha
B; Lim
BA; Ogle
J; de Vasconcellos
JPC; Costa
VP; Abe
RY; de Souza
BB; Sng
CC; Aquino
MC; Kosior-Jarecka
E; Fong
GB; Tamanaja
VC; Fujita
R; Jiang
Y; Waseem
N; Low
S; Pham
HN; Al-Shahwan
S; Craven
ER; Khan
MI; Dada
R; Mohanty
K; Faiq
MA; Hewitt
AW; Burdon
KP; Gan
EH; Prutthipongsit
A; Patthanathamrongkasem
T; Catacutan
MAT; Felarca
IR; Liao
CS; Rusmayani
E; Istiantoro
VW; Consolandi
G; Pignata
G; Lavia
C; Rojanapongpun
P; Mangkornkanokpong
L; Chansangpetch
S; Chan
JCH; Choy
BNK; Shum
JWH; Than
HM; Oo
KT; Han
AT; Yong
VH; Ng
XY; Goh
SR; Chong
YF; Hibberd
ML; Seielstad
M; Png
E; Dunstan
SJ; Chau
NVV; Bei
J; Zeng
YX; Karkey
A; Basnyat
B; Pasutto
F; Paoli
D; Frezzotti
P; Wang
JJ; Mitchell
P; Fingert
JH; Allingham
RR; Hauser
MA; Lim
ST; Chew
SH; Ebstein
RP; Sakuntabhai
A; Park
KH; Ahn
J; Boland
G; Snippe
H; Stead
R; Quino
R; Zaw
SN; Lukasik
U; Shetty
R; Zahari
M; Bae
HW; Oo
NL; Kubota
T; Manassakorn
A; Ho
WL; Dallorto
L; Hwang
YH; Kiire
CA; Kuroda
M; Djamal
ZE; Peregrino
JIM; Ghosh
A; Jeoung
JW; Hoan
TS; Srisamran
N; Sandragasu
T; Set
SH; Doan
VH; Bhattacharya
SS; Ho
CL; Tan
DT; Sihota
R; Loon
SC; Mori
K; Kinoshita
S; den Hollander
AI; Qamar
R; Wang
YX; Teo
YY; Tai
ES; Hartleben-Matkin
C; Lozano-Giral
D; Saw
SM; Cheng
CY; Zenteno
JC; Pang
CP; Bui
HTT; Hee
O; Craig
JE; Edward
DP; Yonahara
M; Neto
JM; Guevara-Fujita
ML; Xu
L; Ritch
R; Liza-Sharmini
AT; Wong
TY; Al-Obeidan
S; Do
NH; Sundaresan
P; Tham
CC; Foster
PJ; Vijaya
L; Tashiro
K; Vithana
EN; Wang
NL; Aung
T
Institución
Resumen
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 x 10(-15)), CHAT rs1258267 (OR = 1.22, P = 2.85 x 10(-16)), GLIS3 rs736893 (OR = 1.18, P = 1.43 x 10(-14)), FERMT2 rs7494379 (OR = 1.14, P = 3.43 x 10(-11)), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 x 10(-12)). We also confirmed significant association at three previously described loci (P < 5 x 10(-8) for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18)(1), providing new insights into the biology of PACG. 48
556 562 Singapore Ministry of Health's National Medical Research Council under its Translational and Clinical Research (TCR) Flagship Programme Grant Stratified Medicine for Primary Angle Closure Glaucoma [NMRC/TCR/008-SERI/2013] Singapore Translational Research (STaR) Investigator Award Singapore Angle Closure Glaucoma Program Characterization, Prevention, and Management [NMRC/STAR/0023/2014] Biomedical Research Council Agency for Science, Technology and Research (A-STAR), Singapore Universiti Sains Malaysia [RUI 1001/PPSP/812101, RUI 1001/PPSP/812152] Program of Beijing Scholars Leading Talents-High-Level Talents of the Health System of Beijing [2009-1-05] National Major Scientific and Technological Special Project for 'Significant New Drugs Development' [2011ZX09302-007-05] National Natural Science Foundation of China [81570837]