Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
TinAung;
MineoOzaki;
Mei Chin Lee 
;
UrsulaSchlötzer-Schrehardt;
GudmarThorleifsson;
TakanoriMizoguchi;
Robert PIgo;
AravindHaripriya;
Susan EWilliams;
Yury SAstakhov;
+279 more...
Andrew COrr;
Kathryn P Burdon ;
SatokoNakano;
KazuhikoMori;
KhaledAbu-Amero;
Michael Hauser ;
Zheng Li ;
GopalakrishnanPrakadeeswari;
Jessica N Cooke Bailey ;
Alina PopaCherecheanu;
Jae H Kang ;
Sarah Nelson ;
KenHayashi;
Shin-IchiManabe;
ShigeyasuKazama;
TomaszZarnowski;
KenjiInoue;
MuratIrkec;
MiguelCoca-Prados;
KazuhisaSugiyama;
IrmaJärvelä;
PatricioSchlottmann;
S FabianLerner;
HasnaaLamari;
YildirimNilgün;
Mukharram Bikbov ;
Ki HoPark;
Soon CheolCha;
Kenji Yamashiro ;
Juan CZenteno;
Jost B Jonas ;
Rajesh SKumar;
Shamira APerera;
Anita SYChan;
NinoKobakhidze;
Ronnie George ;
LingamVijaya;
TanDo;
Deepak PEdward;
Lourdesde Juan Marcos;
MohammadPakravan;
SasanMoghimi;
RyuichiIdeta;
DaniellaBach-Holm;
PerKappelgaard;
BarbaraWirostko;
SamuelThomas;
DanielGaston;
KarenBedard;
Wenda LGreer;
ZhenglinYang;
XueyiChen;
LulinHuang;
JinghongSang;
HongyanJia;
LiyunJia;
ChunyanQiao;
HuiZhang;
XuyangLiu;
BowenZhao;
Ya-XingWang;
LiangXu;
StéphanieLeruez;
PascalReynier;
GeorgeChichua;
SergoTabagari;
SteffenUebe;
MatthiasZenkel;
DanielBerner;
GeorgMossböck;
NicoleWeisschuh;
UrsulaHoja;
Ulrich-ChristophWelge-Luessen;
ChristianMardin;
PanayiotaFounti;
AnthiChatzikyriakidou;
TheofanisPappas;
EleftheriosAnastasopoulos;
AlexandrosLambropoulos;
Arkasubhra Ghosh ;
RohitShetty;
NataliaPorporato;
VijayanSaravanan;
RengarajVenkatesh;
ChandrashekaranShivkumar;
NarendranKalpana;
SripriyaSarangapani;
Mozhgan RKanavi;
Afsaneh NaderiBeni;
ShahinYazdani;
AlirezaLashay;
HomaNaderifar;
NassimKhatibi;
AntonioFea;
CarloLavia;
LauraDallorto;
TeresaRolle;
PaoloFrezzotti;
DanielaPaoli;
ErikaSalvi;
PaoloManunta;
YosaiMori;
KazunoriMiyata;
TomomiHigashide;
EtsuoChihara;
SatoshiIshiko;
AkitoshiYoshida;
MasahideYanagi;
YoshiakiKiuchi;
TsutomuOhashi;
ToshiyaSakurai;
TakakoSugimoto;
HidekiChuman;
MakotoAihara;
MasaruInatani;
MasahiroMiyake;
NorimotoGotoh;
FumihikoMatsuda;
NagahisaYoshimura;
YokoIkeda;
MorioUeno;
ChieSotozono;
Jin WookJeoung;
MinSagong;
Kyu HyungPark;
JeeyunAhn;
MarisaCruz-Aguilar;
Sidi MEzzouhairi;
AbderrahmanRafei;
Yaan FunChong;
Xiao YuNg;
Shuang RuGoh;
YuemingChen;
Victor HKYong;
Muhammad ImranKhan;
Olusola OOlawoye;
Adeyinka OAshaye;
IdakwoUgbede;
AdeolaOnakoya;
NkiruKizor-Akaraiwe;
ChaiwatTeekhasaenee;
YaninSuwan;
WasuSupakontanasan;
SuhanyaOkeke;
Nkechi JUche;
IfeomaAsimadu;
HumairaAyub;
FarahAkhtar;
EwaKosior-Jarecka;
UrszulaLukasik;
IgnacioLischinsky;
VaniaCastro;
Rodolfo PerezGrossmann;
GordanaSunaric Megevand;
SylvainRoy;
EdwardDervan;
EoinSilke;
AparnaRao;
PritiSahay;
PabloFornero;
OsvaldoCuello;
DeliaSivori;
TamaraZompa;
Richard AMills;
EmmanuelleSouzeau;
PaulMitchell;
Jie JinWang;
Alex WHewitt;
MichaelCoote;
Jonathan GCrowston;
Sergei YAstakhov;
Eugeny LAkopov;
AntonEmelyanov;
VeraVysochinskaya;
Gyulli Kazakbaeva ;
RinatFayzrakhmanov;
Saleh AAl-Obeidan;
OhoudOwaidhah;
Leyla AliAljasim;
BalramChowbay;
Jia Nee Foo ;
Raphael QSoh;
Kar Seng Sim ;
ZhichengXie;
Augustine WOCheong;
Shi QiMok;
Hui MengSoo;
Xiao YinChen;
Su QinPeh;
Khai KoonHeng;
RahatHusain;
Su-LingHo;
Axel M Hillmer ;
Ching-YuCheng;
Francisco AEscudero-Domínguez;
RogelioGonzález-Sarmiento;
Frederico Martinon-Torres ;
AntonioSalas;
KessaraPathanapitoon;
LindaHansapinyo;
BoonsongWanichwecharugruang;
NarisKitnarong;
Anavaj Sakuntabhai ;
Hip XNguyn;
Giang TT Nguyn ;
Trình VNguyn;
WernerZenz;
AlexanderBinder;
Daniela SKlobassa;
Martin LHibberd;
SoniaDavila;
StefanHerms;
Markus MNöthen;
SusanneMoebus;
Robyn MRautenbach;
AriZiskind;
Trevor RCarmichael;
MicheleRamsay;
LydiaÁlvarez;
MontserratGarcía;
HéctorGonzález-Iglesias;
Pedro PRodríguez-Calvo;
LuisFernández-Vega Cueto;
ÇilingirOguz;
NevbaharTamcelik;
Eray Atalay ;
BilgeBatu;
DilekAktas;
BurcuKasım;
M RoyWilson;
Anne L Coleman ;
YutaoLiu;
PratapChalla;
LeonHerndon;
Rachel WKuchtey;
JohnKuchtey;
KarenCurtin;
Craig JChaya;
AlanCrandall;
Linda MZangwill;
Tien YinWong;
MasakazuNakano;
ShigeruKinoshita;
Anneke Iden Hollander;
EijaVesti;
John HFingert;
Richard KLee;
Arthur JSit;
Bradford JShingleton;
NingliWang;
DanieleCusi;
Raheel Qamar ;
PeterKraft;
Margaret APericak-Vance;
SoumyaRaychaudhuri;
SteffenHeegaard;
TeroKivelä;
André Reis ;
Friedrich EKruse;
Robert NWeinreb;
Louis RPasquale;
Jonathan L Haines ;
UnnurThorsteinsdottir;
FridbertJonasson;
R RandAllingham;
DanMilea;
Robert Ritch ;
Toshiaki Kubota ;
KeiTashiro;
Eranga NVithana;
ShaziaMicheal;
FotisTopouzis;
Jamie ECraig;
Michael Dubina ;
PeriasamySundaresan;
KariStefansson;
Janey LWiggs;
FrancescaPasutto;
Chiea Chuen Khor ;
(2017)
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
Nature genetics, 49 (7).
pp. 993-1004.
ISSN 1061-4036
DOI: 10.1038/ng.3875
;
UrsulaSchlötzer-Schrehardt;
GudmarThorleifsson;
TakanoriMizoguchi;
Robert PIgo;
AravindHaripriya;
Susan EWilliams;
Yury SAstakhov;
+279 more...
Andrew COrr;
Kathryn P Burdon ;
SatokoNakano;
KazuhikoMori;
KhaledAbu-Amero;
Michael Hauser ;
Zheng Li ;
GopalakrishnanPrakadeeswari;
Jessica N Cooke Bailey ;
Alina PopaCherecheanu;
Jae H Kang ;
Sarah Nelson ;
KenHayashi;
Shin-IchiManabe;
ShigeyasuKazama;
TomaszZarnowski;
KenjiInoue;
MuratIrkec;
MiguelCoca-Prados;
KazuhisaSugiyama;
IrmaJärvelä;
PatricioSchlottmann;
S FabianLerner;
HasnaaLamari;
YildirimNilgün;
Mukharram Bikbov ;
Ki HoPark;
Soon CheolCha;
Kenji Yamashiro ;
Juan CZenteno;
Jost B Jonas ;
Rajesh SKumar;
Shamira APerera;
Anita SYChan;
NinoKobakhidze;
Ronnie George ;
LingamVijaya;
TanDo;
Deepak PEdward;
Lourdesde Juan Marcos;
MohammadPakravan;
SasanMoghimi;
RyuichiIdeta;
DaniellaBach-Holm;
PerKappelgaard;
BarbaraWirostko;
SamuelThomas;
DanielGaston;
KarenBedard;
Wenda LGreer;
ZhenglinYang;
XueyiChen;
LulinHuang;
JinghongSang;
HongyanJia;
LiyunJia;
ChunyanQiao;
HuiZhang;
XuyangLiu;
BowenZhao;
Ya-XingWang;
LiangXu;
StéphanieLeruez;
PascalReynier;
GeorgeChichua;
SergoTabagari;
SteffenUebe;
MatthiasZenkel;
DanielBerner;
GeorgMossböck;
NicoleWeisschuh;
UrsulaHoja;
Ulrich-ChristophWelge-Luessen;
ChristianMardin;
PanayiotaFounti;
AnthiChatzikyriakidou;
TheofanisPappas;
EleftheriosAnastasopoulos;
AlexandrosLambropoulos;
Arkasubhra Ghosh ;
RohitShetty;
NataliaPorporato;
VijayanSaravanan;
RengarajVenkatesh;
ChandrashekaranShivkumar;
NarendranKalpana;
SripriyaSarangapani;
Mozhgan RKanavi;
Afsaneh NaderiBeni;
ShahinYazdani;
AlirezaLashay;
HomaNaderifar;
NassimKhatibi;
AntonioFea;
CarloLavia;
LauraDallorto;
TeresaRolle;
PaoloFrezzotti;
DanielaPaoli;
ErikaSalvi;
PaoloManunta;
YosaiMori;
KazunoriMiyata;
TomomiHigashide;
EtsuoChihara;
SatoshiIshiko;
AkitoshiYoshida;
MasahideYanagi;
YoshiakiKiuchi;
TsutomuOhashi;
ToshiyaSakurai;
TakakoSugimoto;
HidekiChuman;
MakotoAihara;
MasaruInatani;
MasahiroMiyake;
NorimotoGotoh;
FumihikoMatsuda;
NagahisaYoshimura;
YokoIkeda;
MorioUeno;
ChieSotozono;
Jin WookJeoung;
MinSagong;
Kyu HyungPark;
JeeyunAhn;
MarisaCruz-Aguilar;
Sidi MEzzouhairi;
AbderrahmanRafei;
Yaan FunChong;
Xiao YuNg;
Shuang RuGoh;
YuemingChen;
Victor HKYong;
Muhammad ImranKhan;
Olusola OOlawoye;
Adeyinka OAshaye;
IdakwoUgbede;
AdeolaOnakoya;
NkiruKizor-Akaraiwe;
ChaiwatTeekhasaenee;
YaninSuwan;
WasuSupakontanasan;
SuhanyaOkeke;
Nkechi JUche;
IfeomaAsimadu;
HumairaAyub;
FarahAkhtar;
EwaKosior-Jarecka;
UrszulaLukasik;
IgnacioLischinsky;
VaniaCastro;
Rodolfo PerezGrossmann;
GordanaSunaric Megevand;
SylvainRoy;
EdwardDervan;
EoinSilke;
AparnaRao;
PritiSahay;
PabloFornero;
OsvaldoCuello;
DeliaSivori;
TamaraZompa;
Richard AMills;
EmmanuelleSouzeau;
PaulMitchell;
Jie JinWang;
Alex WHewitt;
MichaelCoote;
Jonathan GCrowston;
Sergei YAstakhov;
Eugeny LAkopov;
AntonEmelyanov;
VeraVysochinskaya;
Gyulli Kazakbaeva ;
RinatFayzrakhmanov;
Saleh AAl-Obeidan;
OhoudOwaidhah;
Leyla AliAljasim;
BalramChowbay;
Jia Nee Foo ;
Raphael QSoh;
Kar Seng Sim ;
ZhichengXie;
Augustine WOCheong;
Shi QiMok;
Hui MengSoo;
Xiao YinChen;
Su QinPeh;
Khai KoonHeng;
RahatHusain;
Su-LingHo;
Axel M Hillmer ;
Ching-YuCheng;
Francisco AEscudero-Domínguez;
RogelioGonzález-Sarmiento;
Frederico Martinon-Torres ;
AntonioSalas;
KessaraPathanapitoon;
LindaHansapinyo;
BoonsongWanichwecharugruang;
NarisKitnarong;
Anavaj Sakuntabhai ;
Hip XNguyn;
Giang TT Nguyn ;
Trình VNguyn;
WernerZenz;
AlexanderBinder;
Daniela SKlobassa;
Martin LHibberd;
SoniaDavila;
StefanHerms;
Markus MNöthen;
SusanneMoebus;
Robyn MRautenbach;
AriZiskind;
Trevor RCarmichael;
MicheleRamsay;
LydiaÁlvarez;
MontserratGarcía;
HéctorGonzález-Iglesias;
Pedro PRodríguez-Calvo;
LuisFernández-Vega Cueto;
ÇilingirOguz;
NevbaharTamcelik;
Eray Atalay ;
BilgeBatu;
DilekAktas;
BurcuKasım;
M RoyWilson;
Anne L Coleman ;
YutaoLiu;
PratapChalla;
LeonHerndon;
Rachel WKuchtey;
JohnKuchtey;
KarenCurtin;
Craig JChaya;
AlanCrandall;
Linda MZangwill;
Tien YinWong;
MasakazuNakano;
ShigeruKinoshita;
Anneke Iden Hollander;
EijaVesti;
John HFingert;
Richard KLee;
Arthur JSit;
Bradford JShingleton;
NingliWang;
DanieleCusi;
Raheel Qamar ;
PeterKraft;
Margaret APericak-Vance;
SoumyaRaychaudhuri;
SteffenHeegaard;
TeroKivelä;
André Reis ;
Friedrich EKruse;
Robert NWeinreb;
Louis RPasquale;
Jonathan L Haines ;
UnnurThorsteinsdottir;
FridbertJonasson;
R RandAllingham;
DanMilea;
Robert Ritch ;
Toshiaki Kubota ;
KeiTashiro;
Eranga NVithana;
ShaziaMicheal;
FotisTopouzis;
Jamie ECraig;
Michael Dubina ;
PeriasamySundaresan;
KariStefansson;
Janey LWiggs;
FrancescaPasutto;
Chiea Chuen Khor ;
(2017)
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.
Nature genetics, 49 (7).
pp. 993-1004.
ISSN 1061-4036
DOI: 10.1038/ng.3875
Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results across populations, and to identify new variants associated with XFS. We identified a rare protective allele at LOXL1 (p.Phe407, odds ratio (OR) = 25, P = 2.9 × 10-14) through deep resequencing of XFS cases and controls from nine countries. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P < 5 × 10-8). We identified association signals at 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.
Full text not available from this repository.
Explore Further
Find work associated with the faculties and division(s):
Find work from this publication: