| Title |
A genome-wide association study identified a novel genetic loci STON1-GTF2A1L/LHCGR/FSHR for bilaterality of neovascular age-related macular degeneration
|
|---|---|
| Published in |
Scientific Reports, August 2017
|
| DOI | 10.1038/s41598-017-07526-9 |
| Pubmed ID | |
| Authors |
Kyoko Kawashima-Kumagai, Kenji Yamashiro, Munemitsu Yoshikawa, Masahiro Miyake, Gemmy Cheung Chui Ming, Qiao Fan, Jia Yu Koh, Masaaki Saito, Masako Sugahara-Kuroda, Maho Oishi, Yumiko Akagi-Kurashige, Isao Nakata, Hideo Nakanishi, Norimoto Gotoh, Akio Oishi, Hiroshi Tamura, Sotaro Ooto, Akitaka Tsujikawa, Yasuo Kurimoto, Tetsuju Sekiryu, Fumihiko Matsuda, Chiea-Chuen Khor, Ching-Yu Cheng, Tien Yin Wong, Nagahisa Yoshimura |
| Abstract |
Bilateral neovascular age-related macular degeneration (AMD) causes much more handicaps for patients than unilateral neovascular AMD. Although several AMD-susceptibility genes have been evaluated for their associations to bilaterality, genome-wide association study (GWAS) on bilaterality has been rarely reported. In the present study, we performed GWAS using neovascular AMD cases in East Asian. The discovery stage compared 581,252 single nucleotide polymorphisms (SNPs) between 803 unilateral and 321 bilateral Japanese cases but no SNP showed genome-wide significance, while SNPs at six regions showed P-value < 1.0 × 10(-5), STON1-GTF2A1L/LHCGR/FSHR, PLXNA1, CTNNA3, ARMS2/HTRA1, LHFP, and FLJ38725. The first replication study for these six regions comparing 36 bilateral and 132 unilateral Japanese cases confirmed significant associations of rs4482537 (STON1-GTF2A1L/LHCGR/FSHR), rs2284665 (ARMS2/HTRA1), and rs8002574 (LHFP) to bilaterality. In the second replication study comparing 24 bilateral and 78 unilateral cases from Singapore, rs4482537 (STON1-GTF2A1L/LHCGR/FSHR) only showed significant association. Meta-analysis of discovery and replication studies confirmed genome-wide level significant association (P = 2.61 × 10(-9)) of rs4482537 (STON1-GTF2A1L/LHCGR/FSHR) and strong associations (P = 5.76 × 10(-7) and 9.73 × 10(-7), respectively) of rs2284665 (ARMS2/HTRA1) and rs8002574 (LHFP). Our GWAS for neovascular AMD bilaterality found new genetic loci STON1-GTF2A1L/LHCGR/FSHR and confirmed the previously reported association of ARMS2/HTRA1. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Switzerland | 2 | 67% |
| Unknown | 1 | 33% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 3 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 30 | 100% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Researcher | 4 | 13% |
| Professor | 4 | 13% |
| Student > Bachelor | 3 | 10% |
| Other | 3 | 10% |
| Student > Ph. D. Student | 3 | 10% |
| Other | 5 | 17% |
| Unknown | 8 | 27% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 9 | 30% |
| Environmental Science | 1 | 3% |
| Pharmacology, Toxicology and Pharmaceutical Science | 1 | 3% |
| Unspecified | 1 | 3% |
| Nursing and Health Professions | 1 | 3% |
| Other | 3 | 10% |
| Unknown | 14 | 47% |
Attention Score in Context
This research output has an Altmetric Attention Score of 2. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 22 August 2017.
All research outputs
#13,747,876
of 23,306,612 outputs
Outputs from Scientific Reports
#62,603
of 125,968 outputs
Outputs of similar age
#161,790
of 318,355 outputs
Outputs of similar age from Scientific Reports
#2,824
of 6,017 outputs
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