Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy
| Autor: | Shigeru Honda, Takehiro Sato, Sotaro Ooto, Eiko K. de Jong, Hideo Nakanishi, Tien Yin Wong, Chieko Shiragami, Tomohiro Iida, Yuki Muraoka, Yoichi Sakurada, Ryo Yamada, Kenji Yamashiro, Carel B. Hoyng, Nobuhisa Mizuki, Camiel J. F. Boon, Naoko Ueda-Arakawa, Akio Oishi, Fumihiko Matsuda, Masahiro Miyake, Hiroshi Tamura, Manabu Miyata, Akira Meguro, Akitaka Tsujikawa, Chiea Chuen Khor, Yoshikatsu Hosoda, Atsushi Tajima, Ayako Takahashi, Akihito Uji, Akiko Miki, Yukari Takasago, Rosa L. Schellevis, Seigo Yoneyama, Masayuki Hata, Anneke I. den Hollander |
|---|---|
| Přispěvatelé: | Ophthalmology, ANS - Complex Trait Genetics |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
Male
0301 basic medicine Oncology medicine.medical_specialty Quantitative Trait Loci Gene Expression Medicine (miscellaneous) Genome-wide association study Disease Genome-wide association studies Article Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12] General Biochemistry Genetics and Molecular Biology Pathogenesis 03 medical and health sciences All institutes and research themes of the Radboud University Medical Center 0302 clinical medicine Internal medicine Databases Genetic Odds Ratio medicine Humans Genetic Predisposition to Disease Allele lcsh:QH301-705.5 Gene Alleles business.industry Computational Biology Macular degeneration medicine.disease Retinal diseases Europe Serous fluid 030104 developmental biology Central Serous Chorioretinopathy lcsh:Biology (General) Genetic Loci Case-Control Studies 030221 ophthalmology & optometry Susceptibility locus Female sense organs General Agricultural and Biological Sciences business Genome-Wide Association Study |
| Zdroj: | Communications Biology, 2(1):468. Springer Nature Communications Biology, 2 Communications Biology, Vol 2, Iss 1, Pp 1-9 (2019) Communications Biology, 2. Nature Research (part of Springer Nature): Fully open access journals / Nature Publishing Group Communications Biology |
| ISSN: | 2399-3642 |
| DOI: | 10.1038/s42003-019-0712-z |
| Popis: | The recently emerged pachychoroid concept has changed the understanding of age-related macular degeneration (AMD), which is a major cause of blindness; recent studies attributed AMD in part to pachychoroid disease central serous chorioretinopathy (CSC), suggesting the importance of elucidating the CSC pathogenesis. Our large genome-wide association study followed by validation studies in three independent Japanese and European cohorts, consisting of 1546 CSC samples and 13, 029 controls, identified two novel CSC susceptibility loci: TNFRSF10A-LOC389641 and near GATA5 (rs13278062, odds ratio = 1.35, P = 1.26 × 10−13; rs6061548, odds ratio = 1.63, P = 5.36 × 10−15). A T allele at TNFRSF10A-LOC389641 rs13278062, a risk allele for CSC, is known to be a risk allele for AMD. This study not only identified new susceptibility genes for CSC, but also improves the understanding of the pathogenesis of AMD. 特殊な網膜剥離の発症に関わる遺伝子変異を発見 --中心性漿液性脈絡網膜症のゲノムワイド関連解析--. 京都大学プレスリリース. 2019-12-13. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
| Nepřihlášeným uživatelům se plný text nezobrazuje | K zobrazení výsledku je třeba se přihlásit. |