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Article: Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

TitleGenome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma
Authors
Khor, CCDo, TJia, HNakano, MGeorge, RAbu-Amero, KDuvesh, RChen, LJLi, ZNongpiur, MEPerera, SAQiao, CWong, HTSakai, HDe Melo, MBLee, MCSChan, AAzhany, YDao, TLHIkeda, YPerez-Grossmann, RAZarnowski, TDay, ACJonas, JBTam, POSTran, TAAyub, HAkhtar, FMicheal, SChew, PTKAljasim, LADada, TLuu, TTAwadalla, MSKitnarong, NWanichwecharungruang, BAung, YYMohamed-Noor, JVijayan, SSarangapani, SHusain, RJap, ABaskaran, MGoh, DSu, DHWang, HYong, VKYip, LWTrinh, TBMakornwattana, MNguyen, TTLeuenberger, EUPark, KHWiyogo, WASKumar, RTello, CKurimoto, YThapa, SSPathanapitoon, KSalmon, JFSohn, YHFea, AOzaki, MLai, JSMTantisevi, VKhaing, CCMizoguchi, TNakano, SKim, CYTang, GFan, SWu, RMeng, HNguyen, TTGTran, TDUeno, MMartinez, JMRamli, NAung, YMReyes, RDVernon, SAFang, SKXie, ZChen, XYFoo, JNSim, KSWong, TTQuek, DTVenkatesh, RKavitha, SKrishnadas, SRSoumittra, NShantha, BLim, BAOgle, JVasconcellos, JPCCosta, VPAbe, RYDe Souza, BBSng, CCAquino, MCKosior-Jarecka, EFong, GBTamanaja, VCFujita, RJiang, YWaseem, NLow, SPham, HNAl-Shahwan, SCraven, EKhan, MIDada, RMohanty, KFaiq, MAWHewitt, ABurdon, KPGan, EHPrutthipongsit, APatthanathamrongkasem, TTCatacutan, MAFelarca, IRSLiao, CRusmayani, EIstiantoro, VWConsolandi, GPignata, GLavia, CRojanapongpun, PMangkornkanokpong, LChansangpetch, SChan, JCHChoy, BNKShum, JWHThan, HMOo, KTHan, ATYong, VHNg, XYGoh, SRChong, YFHibberd, MLSeielstad, MPng, EDunstan, SJVan Vinh Chau, NBei, JZeng, YXKarkey, ABasnyat, BPasutto, FPaoli, DFrezzotti, PWang, JJMitchell, PFingert, JHAllingham, RRHauser, MALim, STChew, SHEbstein, RPSakuntabhai, APark, KHAhn, JBoland, GSnippe, HStead, RQuino, RZaw, SNLukasik, UShetty, RZahari, MBae, HWOo, NLKubota, TManassakorn, AHo, WLDallorto, LHwang, YHKiire, CAKuroda, MDjamal, ZEPeregrino, JIMGhosh, AJeoung, JWHoan, TSSrisamran, NSandragasu, TSet, SHDoan, VHBhattacharya, SSHo, CLTan, DTSihota, RLoon, SCMori, KKinoshita, SDen Hollander, AIQamar, RWang, YXTeo, YYTai, ESHartleben-Matkin, CLozano-Giral, DSaw, SMCheng, CYCzenteno, JPang, CPBui, HTTHee, OCraig, JEEdward, DPYonahara, MNeto, JMGuevara-Fujita, MLXu, LRitch, RLiza-Sharmini, ATWong, TYAl-Obeidan, SDo, NHSundaresan, PTham, CCFoster, PJVijaya, LTashiro, KVithana, ENWang, NAung, T
Issue Date2016
PublisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com
Citation
Nature Genetics, 2016, v. 48 n. 5, p. 556-562 How to Cite?
AbstractPrimary 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 × 10-15), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10-16), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10-14), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10-11), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10-12). We also confirmed significant association at three previously described loci (P < 5 × 10-8 for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.
Persistent Identifierhttp://hdl.handle.net/10722/225807
ISSN
2023 Impact Factor: 31.7
2023 SCImago Journal Rankings: 17.300
ISI Accession Number ID

 

DC FieldValueLanguage
dc.contributor.authorKhor, CC-
dc.contributor.authorDo, T-
dc.contributor.authorJia, H-
dc.contributor.authorNakano, M-
dc.contributor.authorGeorge, R-
dc.contributor.authorAbu-Amero, K-
dc.contributor.authorDuvesh, R-
dc.contributor.authorChen, LJ-
dc.contributor.authorLi, Z-
dc.contributor.authorNongpiur, ME-
dc.contributor.authorPerera, SA-
dc.contributor.authorQiao, C-
dc.contributor.authorWong, HT-
dc.contributor.authorSakai, H-
dc.contributor.authorDe Melo, MB-
dc.contributor.authorLee, MC-
dc.contributor.authorSChan, A-
dc.contributor.authorAzhany, Y-
dc.contributor.authorDao, TLH-
dc.contributor.authorIkeda, Y-
dc.contributor.authorPerez-Grossmann, RA-
dc.contributor.authorZarnowski, T-
dc.contributor.authorDay, AC-
dc.contributor.authorJonas, JB-
dc.contributor.authorTam, POS-
dc.contributor.authorTran, TA-
dc.contributor.authorAyub, H-
dc.contributor.authorAkhtar, F-
dc.contributor.authorMicheal, S-
dc.contributor.authorChew, PTK-
dc.contributor.authorAljasim, LA-
dc.contributor.authorDada, T-
dc.contributor.authorLuu, TT-
dc.contributor.authorAwadalla, MS-
dc.contributor.authorKitnarong, N-
dc.contributor.authorWanichwecharungruang, B-
dc.contributor.authorAung, YY-
dc.contributor.authorMohamed-Noor, J-
dc.contributor.authorVijayan, S-
dc.contributor.authorSarangapani, S-
dc.contributor.authorHusain, R-
dc.contributor.authorJap, A-
dc.contributor.authorBaskaran, M-
dc.contributor.authorGoh, D-
dc.contributor.authorSu, DH-
dc.contributor.authorWang, H-
dc.contributor.authorYong, VK-
dc.contributor.authorYip, LW-
dc.contributor.authorTrinh, TB-
dc.contributor.authorMakornwattana, M-
dc.contributor.authorNguyen, TT-
dc.contributor.authorLeuenberger, EU-
dc.contributor.authorPark, KH-
dc.contributor.authorWiyogo, WA-
dc.contributor.authorSKumar, R-
dc.contributor.authorTello, C-
dc.contributor.authorKurimoto, Y-
dc.contributor.authorThapa, SS-
dc.contributor.authorPathanapitoon, K-
dc.contributor.authorSalmon, JF-
dc.contributor.authorSohn, YH-
dc.contributor.authorFea, A-
dc.contributor.authorOzaki, M-
dc.contributor.authorLai, JSM-
dc.contributor.authorTantisevi, V-
dc.contributor.authorKhaing, CC-
dc.contributor.authorMizoguchi, T-
dc.contributor.authorNakano, S-
dc.contributor.authorKim, CY-
dc.contributor.authorTang, G-
dc.contributor.authorFan, S-
dc.contributor.authorWu, R-
dc.contributor.authorMeng, H-
dc.contributor.authorNguyen, TTG-
dc.contributor.authorTran, TD-
dc.contributor.authorUeno, M-
dc.contributor.authorMartinez, JM-
dc.contributor.authorRamli, N-
dc.contributor.authorAung, YM-
dc.contributor.authorReyes, RD-
dc.contributor.authorVernon, SA-
dc.contributor.authorFang, SK-
dc.contributor.authorXie, Z-
dc.contributor.authorChen, XY-
dc.contributor.authorFoo, JN-
dc.contributor.authorSim, KS-
dc.contributor.authorWong, TT-
dc.contributor.authorQuek, DT-
dc.contributor.authorVenkatesh, R-
dc.contributor.authorKavitha, S-
dc.contributor.authorKrishnadas, SR-
dc.contributor.authorSoumittra, N-
dc.contributor.authorShantha, B-
dc.contributor.authorLim, BA-
dc.contributor.authorOgle, J-
dc.contributor.authorVasconcellos, JPC-
dc.contributor.authorCosta, VP-
dc.contributor.authorAbe, RY-
dc.contributor.authorDe Souza, BB-
dc.contributor.authorSng, CC-
dc.contributor.authorAquino, MC-
dc.contributor.authorKosior-Jarecka, E-
dc.contributor.authorFong, GB-
dc.contributor.authorTamanaja, VC-
dc.contributor.authorFujita, R-
dc.contributor.authorJiang, Y-
dc.contributor.authorWaseem, N-
dc.contributor.authorLow, S-
dc.contributor.authorPham, HN-
dc.contributor.authorAl-Shahwan, S-
dc.contributor.authorCraven, E-
dc.contributor.authorKhan, MI-
dc.contributor.authorDada, R-
dc.contributor.authorMohanty, K-
dc.contributor.authorFaiq, MA-
dc.contributor.authorWHewitt, A-
dc.contributor.authorBurdon, KP-
dc.contributor.authorGan, EH-
dc.contributor.authorPrutthipongsit, A-
dc.contributor.authorPatthanathamrongkasem, T-
dc.contributor.authorTCatacutan, MA-
dc.contributor.authorFelarca, IR-
dc.contributor.authorSLiao, C-
dc.contributor.authorRusmayani, E-
dc.contributor.authorIstiantoro, VW-
dc.contributor.authorConsolandi, G-
dc.contributor.authorPignata, G-
dc.contributor.authorLavia, C-
dc.contributor.authorRojanapongpun, P-
dc.contributor.authorMangkornkanokpong, L-
dc.contributor.authorChansangpetch, S-
dc.contributor.authorChan, JCH-
dc.contributor.authorChoy, BNK-
dc.contributor.authorShum, JWH-
dc.contributor.authorThan, HM-
dc.contributor.authorOo, KT-
dc.contributor.authorHan, AT-
dc.contributor.authorYong, VH-
dc.contributor.authorNg, XY-
dc.contributor.authorGoh, SR-
dc.contributor.authorChong, YF-
dc.contributor.authorHibberd, ML-
dc.contributor.authorSeielstad, M-
dc.contributor.authorPng, E-
dc.contributor.authorDunstan, SJ-
dc.contributor.authorVan Vinh Chau, N-
dc.contributor.authorBei, J-
dc.contributor.authorZeng, YX-
dc.contributor.authorKarkey, A-
dc.contributor.authorBasnyat, B-
dc.contributor.authorPasutto, F-
dc.contributor.authorPaoli, D-
dc.contributor.authorFrezzotti, P-
dc.contributor.authorWang, JJ-
dc.contributor.authorMitchell, P-
dc.contributor.authorFingert, JH-
dc.contributor.authorAllingham, RR-
dc.contributor.authorHauser, MA-
dc.contributor.authorLim, ST-
dc.contributor.authorChew, SH-
dc.contributor.authorEbstein, RP-
dc.contributor.authorSakuntabhai, A-
dc.contributor.authorPark, KH-
dc.contributor.authorAhn, J-
dc.contributor.authorBoland, G-
dc.contributor.authorSnippe, H-
dc.contributor.authorStead, R-
dc.contributor.authorQuino, R-
dc.contributor.authorZaw, SN-
dc.contributor.authorLukasik, U-
dc.contributor.authorShetty, R-
dc.contributor.authorZahari, M-
dc.contributor.authorBae, HW-
dc.contributor.authorOo, NL-
dc.contributor.authorKubota, T-
dc.contributor.authorManassakorn, A-
dc.contributor.authorHo, WL-
dc.contributor.authorDallorto, L-
dc.contributor.authorHwang, YH-
dc.contributor.authorKiire, CA-
dc.contributor.authorKuroda, M-
dc.contributor.authorDjamal, ZE-
dc.contributor.authorPeregrino, JIM-
dc.contributor.authorGhosh, A-
dc.contributor.authorJeoung, JW-
dc.contributor.authorHoan, TS-
dc.contributor.authorSrisamran, N-
dc.contributor.authorSandragasu, T-
dc.contributor.authorSet, SH-
dc.contributor.authorDoan, VH-
dc.contributor.authorBhattacharya, SS-
dc.contributor.authorHo, CL-
dc.contributor.authorTan, DT-
dc.contributor.authorSihota, R-
dc.contributor.authorLoon, SC-
dc.contributor.authorMori, K-
dc.contributor.authorKinoshita, S-
dc.contributor.authorDen Hollander, AI-
dc.contributor.authorQamar, R-
dc.contributor.authorWang, YX-
dc.contributor.authorTeo, YY-
dc.contributor.authorTai, ES-
dc.contributor.authorHartleben-Matkin, C-
dc.contributor.authorLozano-Giral, D-
dc.contributor.authorSaw, SM-
dc.contributor.authorCheng, CY-
dc.contributor.authorCzenteno, J-
dc.contributor.authorPang, CP-
dc.contributor.authorBui, HTT-
dc.contributor.authorHee, O-
dc.contributor.authorCraig, JE-
dc.contributor.authorEdward, DP-
dc.contributor.authorYonahara, M-
dc.contributor.authorNeto, JM-
dc.contributor.authorGuevara-Fujita, ML-
dc.contributor.authorXu, L-
dc.contributor.authorRitch, R-
dc.contributor.authorLiza-Sharmini, AT-
dc.contributor.authorWong, TY-
dc.contributor.authorAl-Obeidan, S-
dc.contributor.authorDo, NH-
dc.contributor.authorSundaresan, P-
dc.contributor.authorTham, CC-
dc.contributor.authorFoster, PJ-
dc.contributor.authorVijaya, L-
dc.contributor.authorTashiro, K-
dc.contributor.authorVithana, EN-
dc.contributor.authorWang, N-
dc.contributor.authorAung, T-
dc.date.accessioned2016-05-20T08:11:06Z-
dc.date.available2016-05-20T08:11:06Z-
dc.date.issued2016-
dc.identifier.citationNature Genetics, 2016, v. 48 n. 5, p. 556-562-
dc.identifier.issn1061-4036-
dc.identifier.urihttp://hdl.handle.net/10722/225807-
dc.description.abstractPrimary 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 × 10-15), CHAT rs1258267 (OR = 1.22, P = 2.85 × 10-16), GLIS3 rs736893 (OR = 1.18, P = 1.43 × 10-14), FERMT2 rs7494379 (OR = 1.14, P = 3.43 × 10-11), and DPM2-FAM102A rs3739821 (OR = 1.15, P = 8.32 × 10-12). We also confirmed significant association at three previously described loci (P < 5 × 10-8 for each sentinel SNP at PLEKHA7, COL11A1, and PCMTD1-ST18), providing new insights into the biology of PACG.-
dc.languageeng-
dc.publisherNature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com-
dc.relation.ispartofNature Genetics-
dc.titleGenome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma-
dc.typeArticle-
dc.identifier.emailLai, JSM: laism@hku.hk-
dc.identifier.emailChan, JCH: jonochan@hkucc.hku.hk-
dc.identifier.emailChoy, NKB: bnkchoy@hku.hk-
dc.identifier.emailShum, JWH: jenni101@hku.hk-
dc.identifier.emailHo, WL: hwl069@hku.hk-
dc.identifier.authorityLai, JSM=rp00295-
dc.identifier.authorityChan, JCH=rp02113-
dc.identifier.authorityChoy, NKB=rp01795-
dc.identifier.authorityShum, JWH=rp01849-
dc.identifier.doi10.1038/ng.3540-
dc.identifier.pmid27064256-
dc.identifier.scopuseid_2-s2.0-84963502585-
dc.identifier.hkuros257824-
dc.identifier.volume48-
dc.identifier.issue5-
dc.identifier.spage556-
dc.identifier.epage562-
dc.identifier.isiWOS:000374834100016-
dc.publisher.placeUnited States-
dc.identifier.issnl1061-4036-

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