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Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens–Johnson syndrome with severe ocular complications
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نویسنده
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Ueta Mayumi ,Sawai Hiromi ,Shingaki Ryosei ,Kawai Yusuke ,Sotozono Chie ,Kojima Kaname ,Yoon Kyung-Chul ,Kim Mee Kum ,Seo Kyoung Yul ,Joo Choun-Ki ,Nagasaki Masao ,Kinoshita Shigeru ,Tokunaga Katsushi
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منبع
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journal of human genetics - 2017 - دوره : 62 - شماره : 4 - صفحه:485 -489
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چکیده
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A genome-wide association study (gwas) for cold medicine-related stevens–johnson syndrome (cm-sjs) with severe ocular complications (soc) was performed in a japanese population. a recently developed ethnicity-specific array with genome-wide imputation that was based on the whole-genome sequences of 1070 unrelated japanese individuals was used. validation analysis with additional samples from japanese individuals and replication analysis using samples from korean individuals identified two new susceptibility loci on chromosomes 15 and 16. this study might suggest the usefulness of gwas using the ethnicity-specific array and genome-wide imputation based on large-scale whole-genome sequences. our findings contribute to the understanding of genetic predisposition to cm-sjs with soc.
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آدرس
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Kyoto Prefectural University of Medicine, Department of Frontier Medical Science and Technology for Ophthalmology, Japan. University of Tokyo, Department of Human Genetics, Japan, University of Tokyo, Department of Human Genetics, Japan, Toshiba Corporation Healthcare Company, Life Science Business Department, Healthcare Medical Business Promotion Division, Japan, Tohoku Medical Megabank Organization, Tohoku University, Department of Integrative Genomics, Japan, Kyoto Prefectural University of Medicine, Department of Ophthalmology, Japan, Tohoku Medical Megabank Organization, Tohoku University, Department of Integrative Genomics, Japan, Chonnam National University, Department of Ophthalmology, Korea, Seoul National University College of Medicine, Department of Ophthalmology, Korea, Yonsei University College of Medicine, Department of Ophthalmology, Korea, The Catholic University of Korea, Department of Ophthalmology and Visual Science, Korea, Tohoku Medical Megabank Organization, Tohoku University, Department of Integrative Genomics, Japan, Kyoto Prefectural University of Medicine, Department of Frontier Medical Science and Technology for Ophthalmology, Japan, University of Tokyo, Department of Human Genetics, Japan
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Authors
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