Genome-Wide Association Study in Asians Identifies Novel Loci for High Myopia and Highlights a Nervous System Role in Its Pathogenesis
| Autor: | Masahiro Miyake, Masao Ota, Tzu-Hsun Tsai, Naoko Nomura, Norihiro Yamada, Eiichi Okada, Akira Meguro, Yuki Mizuki, Nobuhisa Mizuki, Qiao Fan, Masao Yoshida, Wanting Zhao, Yasuhito Iijima, Fumihiko Matsuda, I-Jong Wang, Yoshikatsu Hosoda, Akitaka Tsujikawa, Takeshi Teshigawara, Seang-Mei Saw, Takahiro Yamane, Ching-Yu Cheng, Hidetoshi Inoko, Masaki Takeuchi |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Male
Genotyping Techniques genetic structures Taiwan Genome-wide association study Single-nucleotide polymorphism Southeast asian Polymorphism Single Nucleotide Pathogenesis 03 medical and health sciences 0302 clinical medicine Asian People Japan Polymorphism (computer science) Humans Medicine Genetic Predisposition to Disease Gene 030304 developmental biology Genetics Singapore 0303 health sciences business.industry High myopia Middle Aged eye diseases Ophthalmology Genetic Loci Myopia Degenerative 030221 ophthalmology & optometry Female Nervous System Diseases business Genome-Wide Association Study |
| Zdroj: | Ophthalmology. 127:1612-1624 |
| ISSN: | 0161-6420 |
| DOI: | 10.1016/j.ophtha.2020.05.014 |
| Popis: | Purpose To identify novel susceptibility loci for high myopia. Design Genome-wide association study (GWAS) followed by replication and meta-analysis. Participants A total of 14 096 samples from East and Southeast Asian populations (2549 patients with high myopia and 11 547 healthy controls). Methods We performed a GWAS in 3269 Japanese individuals (1668 with high myopia and 1601 control participants), followed by replication analysis in a total of 10 827 additional samples (881 with high myopia and 9946 control participants) from Japan, Singapore, and Taiwan. To confirm the biological role of the identified loci in the pathogenesis of high myopia, we performed functional annotation and Gene Ontology (GO) analyses. Main Outcome Measures We evaluated the association of single nucleotide polymorphisms with high myopia and GO terms enriched among genes identified in the current study. Results We identified 9 loci with genome-wide significance (P Conclusions The current study identified 6 novel loci associated with high myopia and demonstrated an important role of the nervous system in the disease pathogenesis. Our findings give new insight into the genetic factors underlying myopia, including high myopia, by connecting previous findings and allowing for a clarified interpretation of the cause and pathophysiologic features of myopia at the molecular level. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|