机构：[1]Singapore Eye Research Institute, Singapore 169856, Singapore[2]Duke-NUS Graduate Medical School, National University of Singapore, Singapore 169857, Singapore[3]Department of Ophthalmology, NationalUniversity of Singapore and National University Health System, Singapore 119228, Singapore[4]Singapore National Eye Center, Singapore 168751, Singapore[5]Department of Ophthalmology and Visual Sciences,Kyoto University Graduate School of Medicine, Kyoto 6068507, Japan[6]Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China[7]Department ofOphthalmology, Seoul Metropolitan Government Seoul National University Boramae Medical Center, Seoul 156-707, Korea[8]Sichuan Provincial Key Laboratory for Human Disease Gene Study, Hospital of theUniversity of Electronic Science and Technology of China and Sichuan Provincial People’s Hospital, Chengdu 610072, China四川省人民医院[9]School of Medicine, University of Electronic Science and Technology of China,Chengdu 610072, China四川省人民医院[10]Key Laboratory of Vision Loss and Restoration, Ministry of Education of China, Beijing 100044, China[11]Beijing Key Laboratory of Diagnosis and Therapy of Retinal and ChoroidDiseases, Beijing 100871, China[12]Department of Ophthalmology, People’s Hospital, Peking University, Beijing 100871, China[13]Center for Genomic Medicine/Inserm U.852, Kyoto University Graduate School ofMedicine, Kyoto 6068507, Japan[14]Princess Alexandra Eye Pavilion, Edinburgh EH3 9HA, UK[15]National Healthcare Group Eye Institute, Tan Tock Seng Hospital, Singapore 308433, Singapore[16]Division ofHuman Genetics, Genome Institute of Singapore, Singapore 138672, Singapore[17]Eye and Retinal Surgeons, Camden Medical Centre, Singapore 248649, Singapore[18]Saw Swee Hock School of Public Health,National University of Singapore and National University Health System, Singapore 117549, Singapore[19]Department of Ophthalmology, Saitama Medical University, Iruma 3500495, Japan[20]Department ofOphthalmology, Faculty of Medicine, University of Yamanashi, Yamanashi 4093898, Japan[21]Department of Ophthalmology, Tokyo Women’s Medical University Hospital, Tokyo 1628666, Japan[22]Departmentof Surgery, Division of Ophthalmology, Kobe University Graduate School of Medicine, Kobe 6500017, Japan[23]Shantou University/Chinese University of Hong Kong Joint Shantou International Eye Center,Shantou 515041, China[24]Zhongshan Ophthalmic Center, Sun Yat-Sen University, Guangzhou 510060, China[25]Aier School of Ophthalmology, Central South University, Changsha 410000, China[26]Department of Ophthalmology, Xin Hua Hospital affiliated to Shanghai Jiao Tong University, School of Medicine, Shanghai 200025, China[27]Beijing Tongren Eye Center, Beijing Tongren Hospital, CapitalMedical University, Beijing Institute of Ophthalmology, Beijing 100730, China首都医科大学附属同仁医院[28]Cancer Control and Population Sciences, University of Pittsburgh Cancer Institute, Pittsburgh, Pennsylvania 15260, USA[29]Department of Epidemiology, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, Pennsylvania 15260, USA[30]Hebrew University, School of Public Health, Jerusalem 91120, Israel[31]Department of Ophthalmology, Seoul National University Bundang Hospital, Gyeonggi 463-707, Korea[32]Department of Ophthalmology, University of Sydney and Westmead Millennium Institute, Sydney2145, Australia[33]Eye and ENT Hospital of Fudan University, Shanghai 200433, China[34]BGI-Shenzhen, Shenzhen 518083, China[35]Ozaki Eye Hospital, Miyazaki 8830066, Japan[36]Mizoguchi Eye Hospital,Nagasaki 8570016, Japan[37]Department of Ophthalmology, Kobe City General Hospital, Kobe 6500046, Japan[38]Department of Ophthalmology, Seoul National University Hospital, Seoul National UniversityCollege of Medicine, Seoul 110-744, Korea[39]Department of Ophthalmology, School of Medicine, Kyungpook National University, Daegu 700-721, Korea[40]Department of Ophthalmology, Yeungnam UniversityCollege of Medicine, Daegu 705-802, Korea[41]Department of Ophthalmology, College of Medicine, Kosin University, Pusan 606-701, Korea[42]Department of Ophthalmology, Pusan Paik Hospital, InjeUniversity College of Medicine, Pusan 614-735, Korea[43]Department of Ophthalmology, Pusan National University Hospital, Pusan 602-739, Korea[44]Medical Research Institute, Pusan National University,Pusan 602-739, Korea[45]Department of Pediatrics, National University Health System and National University of Singapore, Singapore 119228, Singapore[46]Department of Gastroenterology, Asan MedicalCenter and University of Ulsan College of Medicine, Seoul 138-736, Korea[47]Department of Biochemistry and Molecular Biology, University of Ulsan College of Medicine, Seoul 138-736, Korea[48]State KeyLaboratory of Oncology in Southern China, Guangzhou 510060, China[49]Department of Experimental Research, Sun Yat-Sen University Cancer Center, Guangzhou 510080, China[50]Peking Union MedicalCollege, Chinese Academy of Medical Science, Beijing 100730, China[51]Department of Medicine, National University Health System and National University of Singapore, Singapore 119228, Singapore
Age- related macular degeneration ( AMD) is a major cause of blindness, but presents differently in Europeans and Asians. Here, we perform a genome- wide and exome- wide association study on 2,119 patients with exudative AMD and 5,691 controls, with independent replication in 4,226 patients and 10,289 controls, all of East Asian descent, as part of The Genetics of AMD in Asians ( GAMA) Consortium. We find a strong association between CETP Asp442Gly ( rs2303790), an East Asian- specific mutation, and increased risk of AMD ( odds ratio ( OR) 1.70, P 5.60 10 22). The AMD risk allele ( 442Gly), known to protect from coronary heart disease, increases HDL cholesterol levels by 0.17 mmol l 1 ( P 5.82 10 21) in East Asians ( n 7,102). We also identify three novel AMD loci: C6orf223 Ala231Ala ( OR 0.78, P 6.19 10 18), SLC44A4 Asp47Val ( OR 1.27, P 1.08 10 11) and FGD6 Gln257Arg ( OR 0.87, P 2.85 10 8). Our findings suggest that some of the genetic loci conferring AMD susceptibility in East Asians are shared with Europeans, yet AMD in East Asians may also have a distinct genetic signature.
基金：
NCI NIH HHSUnited States Department of Health & Human ServicesNational Institutes of Health (NIH) - USANIH National Cancer Institute (NCI) [R01 CA080205, R01 CA144034, R01 CA055069, R35 CA053890, R01 CA80205]
第一作者机构：[1]Singapore Eye Research Institute, Singapore 169856, Singapore[2]Duke-NUS Graduate Medical School, National University of Singapore, Singapore 169857, Singapore[3]Department of Ophthalmology, NationalUniversity of Singapore and National University Health System, Singapore 119228, Singapore[4]Singapore National Eye Center, Singapore 168751, Singapore
共同第一作者：
通讯作者：
通讯机构：[1]Singapore Eye Research Institute, Singapore 169856, Singapore[2]Duke-NUS Graduate Medical School, National University of Singapore, Singapore 169857, Singapore[3]Department of Ophthalmology, NationalUniversity of Singapore and National University Health System, Singapore 119228, Singapore[4]Singapore National Eye Center, Singapore 168751, Singapore[16]Division ofHuman Genetics, Genome Institute of Singapore, Singapore 138672, Singapore[18]Saw Swee Hock School of Public Health,National University of Singapore and National University Health System, Singapore 117549, Singapore
推荐引用方式(GB/T 7714)：
Ching-Yu Cheng,Kenji Yamashiro,Li Jia Chen,et al.New loci and coding variants confer risk for age-related macular degeneration in East Asians[J].NATURE COMMUNICATIONS.2015,6:doi:10.1038/ncomms7063.
APA：
Ching-Yu Cheng,Kenji Yamashiro,Li Jia Chen,Jeeyun Ahn,Lulin Huang...&Chiea Chuen Khor.(2015).New loci and coding variants confer risk for age-related macular degeneration in East Asians.NATURE COMMUNICATIONS,6,
MLA：
Ching-Yu Cheng,et al."New loci and coding variants confer risk for age-related macular degeneration in East Asians".NATURE COMMUNICATIONS 6.(2015)
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