Art

J-GLOBAL ID：201702288318082913   Reference number：17A0879133

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci

落屑症候群:落屑症候群の遺伝学的関連研究によるLOXL1の疾患抵抗性希少バリアントならびに5つの新しい疾患感受性座位の同定

Author (120)： AUNG Tin (Singapore Eye Res. Inst., Singapore) ,  LEE Mei Chin (Singapore Eye Res. Inst., Singapore) ,  HAUSER Michael (Singapore Eye Res. Inst., Singapore) ,  PERERA Shamira A (Singapore Eye Res. Inst., Singapore) ,  CHAN Anita S Y (Singapore Eye Res. Inst., Singapore) ,  CHONG Yaan Fun (Singapore Eye Res. Inst., Singapore) ,  NG Xiao Yu (Singapore Eye Res. Inst., Singapore) ,  GOH Shuang Ru (Singapore Eye Res. Inst., Singapore) ,  CHEN Yueming (Singapore Eye Res. Inst., Singapore) ,  YONG Victor H K (Singapore Eye Res. Inst., Singapore) ,  CHENG Ching-Yu (Singapore Eye Res. Inst., Singapore) ,  ATALAY Eray (Singapore Eye Res. Inst., Singapore) ,  WONG Tien Yin (Singapore Eye Res. Inst., Singapore) ,  ALLINGHAM R Rand (Singapore Eye Res. Inst., Singapore) ,  MILEA Dan (Singapore Eye Res. Inst., Singapore) ,  VITHANA Eranga N (Singapore Eye Res. Inst., Singapore) ,  KHOR Chiea Chuen (Singapore Eye Res. Inst., Singapore) ,  AUNG Tin (Singapore National Eye Center, Singapore) ,  PERERA Shamira A (Singapore National Eye Center, Singapore) ,  CHAN Anita S Y (Singapore National Eye Center, Singapore) ,  HUSAIN Rahat (Singapore National Eye Center, Singapore) ,  CHENG Ching-Yu (Singapore National Eye Center, Singapore) ,  WONG Tien Yin (Singapore National Eye Center, Singapore) ,  MILEA Dan (Singapore National Eye Center, Singapore) ,  AUNG Tin (National Univ. Singapore, Singapore) ,  CHENG Ching-Yu (National Univ. Singapore, Singapore) ,  WONG Tien Yin (National Univ. Singapore, Singapore) ,  VITHANA Eranga N (National Univ. Singapore, Singapore) ,  OZAKI Mineo (Ozaki Eye Hospital, Miyazaki, JPN) ,  OZAKI Mineo (Univ. Miyazaki, Miyazaki, JPN) ,  SUGIMOTO Takako (Univ. Miyazaki, Miyazaki, JPN) ,  CHUMAN Hideki (Univ. Miyazaki, Miyazaki, JPN) ,  LEE Mei Chin (Duke-NUS Graduate Medical School, Singapore) ,  CHAN Anita S Y (Duke-NUS Graduate Medical School, Singapore) ,  CHENG Ching-Yu (Duke-NUS Graduate Medical School, Singapore) ,  MILEA Dan (Duke-NUS Graduate Medical School, Singapore) ,  SCHLOETZER-SCHREHARDT Ursula (Friedrich-Alexander-Univ. Erlangen-Nuernberg, Erlangen, DEU) ,  ZENKEL Matthias (Friedrich-Alexander-Univ. Erlangen-Nuernberg, Erlangen, DEU) ,  BERNER Daniel (Friedrich-Alexander-Univ. Erlangen-Nuernberg, Erlangen, DEU) ,  HOJA Ursula (Friedrich-Alexander-Univ. Erlangen-Nuernberg, Erlangen, DEU) ,  WELGE-LUESSEN Ulrich-Christoph (Friedrich-Alexander-Univ. Erlangen-Nuernberg, Erlangen, DEU) ,  MARDIN Christian (Friedrich-Alexander-Univ. Erlangen-Nuernberg, Erlangen, DEU) ,  KRUSE Friedrich E (Friedrich-Alexander-Univ. Erlangen-Nuernberg, Erlangen, DEU) ,  THORLEIFSSON Gudmar (deCODE Genetics, Reykjavik, ISL) ,  THORSTEINSDOTTIR Unnur (deCODE Genetics, Reykjavik, ISL) ,  STEFANSSON Kari (deCODE Genetics, Reykjavik, ISL) ,  MIZOGUCHI Takanori (Mizoguchi Eye Hospital, Sasebo, JPN) ,  IGO Robert P, Jr. (Case Western Reserve Univ., Ohio, USA) ,  BAILEY Jessica N Cooke (Case Western Reserve Univ., Ohio, USA) ,  HAINES Jonathan L (Case Western Reserve Univ., Ohio, USA) ,  HARIPRIYA Aravind (Aravind Eye Hospital, Madurai, IND) ,  WILLIAMS Susan E (Univ. the Witwatersrand, Johannesburg, ZAF) ,  CARMICHAEL Trevor R (Univ. the Witwatersrand, Johannesburg, ZAF) ,  ASTAKHOV Yury S (Pavlov First Saint Petersburg State Medical Univ., St. Petersburg, RUS) ,  ASTAKHOV Sergei Y (Pavlov First Saint Petersburg State Medical Univ., St. Petersburg, RUS) ,  AKOPOV Eugeny L (Pavlov First Saint Petersburg State Medical Univ., St. Petersburg, RUS) ,  EMELYANOV Anton (Pavlov First Saint Petersburg State Medical Univ., St. Petersburg, RUS) ,  DUBINA Michael (Pavlov First Saint Petersburg State Medical Univ., St. Petersburg, RUS) ,  ORR Andrew C (Dalhousie Univ., Nova Scotia, CAN) ,  GASTON Daniel (Dalhousie Univ., Nova Scotia, CAN) ,  BEDARD Karen (Dalhousie Univ., Nova Scotia, CAN) ,  GREER Wenda L (Dalhousie Univ., Nova Scotia, CAN) ,  BURDON Kathryn P (Flinders Univ., South Australia, AUS) ,  MILLS Richard A (Flinders Univ., South Australia, AUS) ,  SOUZEAU Emmanuelle (Flinders Univ., South Australia, AUS) ,  CRAIG Jamie E (Flinders Univ., South Australia, AUS) ,  BURDON Kathryn P (Univ. Tasmania, Tasmania, AUS) ,  HEWITT Alex W (Univ. Tasmania, Tasmania, AUS) ,  NAKANO Satoko (Oita Univ. Fac. of Medicine, Oita, JPN) ,  KUBOTA Toshiaki (Oita Univ. Fac. of Medicine, Oita, JPN) ,  MORI Kazuhiko (Kyoto Prefectural Univ. Medicine, Kyoto, JPN) ,  IKEDA Yoko (Kyoto Prefectural Univ. Medicine, Kyoto, JPN) ,  UENO Morio (Kyoto Prefectural Univ. Medicine, Kyoto, JPN) ,  SOTOZONO Chie (Kyoto Prefectural Univ. Medicine, Kyoto, JPN) ,  KINOSHITA Shigeru (Kyoto Prefectural Univ. Medicine, Kyoto, JPN) ,  ABU-AMERO Khaled (King Saud Univ., Riyadh, SAU) ,  AL-OBEIDAN Saleh A (King Saud Univ., Riyadh, SAU) ,  ABU-AMERO Khaled (Univ. Florida, Florida, USA) ,  HAUSER Michael (Duke Univ. Eye Center, North Carolina, USA) ,  CHALLA Pratap (Duke Univ. Eye Center, North Carolina, USA) ,  HERNDON Leon (Duke Univ. Eye Center, North Carolina, USA) ,  ALLINGHAM R Rand (Duke Univ. Eye Center, North Carolina, USA) ,  HAUSER Michael (Duke Univ. Medical Center, North Carolina, USA) ,  LI Zheng (Genome Inst. of Singapore, Singapore) ,  FOO Jia Nee (Genome Inst. of Singapore, Singapore) ,  SOH Raphael Q (Genome Inst. of Singapore, Singapore) ,  SIM Kar Seng (Genome Inst. of Singapore, Singapore) ,  XIE Zhicheng (Genome Inst. of Singapore, Singapore) ,  CHEONG Augustine W O (Genome Inst. of Singapore, Singapore) ,  MOK Shi Qi (Genome Inst. of Singapore, Singapore) ,  SOO Hui Meng (Genome Inst. of Singapore, Singapore) ,  CHEN Xiao Yin (Genome Inst. of Singapore, Singapore) ,  PEH Su Qin (Genome Inst. of Singapore, Singapore) ,  HENG Khai Koon (Genome Inst. of Singapore, Singapore) ,  HILLMER Axel M (Genome Inst. of Singapore, Singapore) ,  HIBBERD Martin L (Genome Inst. of Singapore, Singapore) ,  DAVILA Sonia (Genome Inst. of Singapore, Singapore) ,  KHOR Chiea Chuen (Genome Inst. of Singapore, Singapore) ,  PRAKADEESWARI Gopalakrishnan (Aravind Medical Res. Foundation, Madurai, IND) ,  SARAVANAN Vijayan (Aravind Medical Res. Foundation, Madurai, IND) ,  CHERECHEANU Alina Popa (’Carol Davila’ Univ. Medicine and Pharmacy, Bucharest, ROM) ,  CHERECHEANU Alina Popa (Univ. Emergency Hospital, Bucharest, ROM) ,  KANG Jae H (Harvard Medical School, Massachusetts, USA) ,  PASQUALE Louis R (Harvard Medical School, Massachusetts, USA) ,  NELSON Sarah (Univ. Washington, Washington, USA) ,  HAYASHI Ken (Hayashi Eye Hospital, Fukuoka, JPN) ,  MANABE Shin-ichi (Hayashi Eye Hospital, Fukuoka, JPN) ,  KAZAMA Shigeyasu (Shinjo Eye Clinic, Miyazaki, JPN) ,  ZARNOWSKI Tomasz (Medical Univ., Lublin, POL) ,  KOSIOR-JARECKA Ewa (Medical Univ., Lublin, POL) ,  LUKASIK Urszula (Medical Univ., Lublin, POL) ,  INOUE Kenji (Inoue Eye Hospital, Tokyo, JPN) ,  IRKEC Murat (Hacettepe Univ., Ankara, TUR) ,  KASIM Burcu (Hacettepe Univ., Ankara, TUR) ,  COCA-PRADOS Miguel (Univ. Oviedo, Oviedo, ESP) ,  ALVAREZ Lydia (Univ. Oviedo, Oviedo, ESP) ,  GARCIA Montserrat (Univ. Oviedo, Oviedo, ESP) ,  GONZALEZ-IGLESIAS Hector (Univ. Oviedo, Oviedo, ESP) ,  RODRIGUEZ-CALVO Pedro P (Univ. Oviedo, Oviedo, ESP) ,  FERNANDEZ-VEGA CUETO Luis (Univ. Oviedo, Oviedo, ESP)
Material： Nature Genetics  (Nat Genet)
Volume： 49  Issue： 7  Page： 993-1004  Publication year： Jul. 2017 
JST Material Number： W0430A  ISSN： 1061-4036  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： iris disease ,  genetic technique ,  blindness ,  Glaucoma ,  risk factor ,  gene ,  human race specificity ,  nucleotide sequence ,  mutant ,  *Genome-Wide Association Study ,  mechanism ,  Genetic Association Studies ,  *disease susceptibility gene ,  next generation sequencing ,  ocular hypertension
Semi thesaurus term： *exfoliation syndrome ,  Loss of Sight ,  risk factor ,  *LOXL1 ,  next-generation sequencing ,  variant ,  Appearance of disease mechanism

JST classification (3)： Congenital diseases,deformities in general.  (GD03010V) ,  Genetic variation  (EC01030Y) ,  Research methods in genetics  (EC01020N)

Terms in the title (8)： 落屑症候群 ,  遺伝学 ,  研究 ,  疾患 ,  抵抗性 ,  希少バリアント ,  疾患感受性座位 ,  同定