Genome-wide Association Study of Lattice Degeneration of the Retina Using 23,465 Microsatellite Markers

1. Akira Meguro¹
2. Hidenao Ideta²
3. Masao Ota³
4. Ryuichi Ideta²
5. Hidetoshi Inoko⁴
6. Nobuhisa Mizuki¹

¹Department of Ophthalmology and Visual Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan
²Ideta Eye Hospital, Kumamoto, Japan
³Department of Legal Medicine, Shinshu University School of Medicine, Matsumoto, Japan
⁴Department of Molecular Life Science, Division of Molecular Medical Science and Molecular Medicine, Tokai University School of Medicine, Isehara, Japan

Purpose: Lattice degeneration of the retina is a vitreoretinal disorder characterized by a visible fundus lesion predisposing to retinal tears and detachment. The etiology of lattice degeneration of the retina is currently believed that certain environmental factors are able to trigger the symptomatology in individuals with a particular genetic background. The molecular nature of this "genetic background" remains unknown. To identify susceptibility genes for lattice degeneration of the retina, we conducted a genome-wide association study (GWAS).

Methods: We conducted a GWAS in 588 Japanese individuals (294 patients and 294 controls) using a dense panel of 23,465 microsatellite markers covering the entire genome. After the GWAS, to validate the results, we performed SNP genotyping of the gene located in the top-signal locus for replication in a distinct cohort of 613 Japanese individuals (256 patients and 357 controls).

Results: This GWAS led to identify the best associated locus with lattice degeneration of the retina. In the next stage, the evidence of replication in the locus was found in the distinct Japanese cohort.

Conclusions: In this study, we were able to identify the new susceptibility gene for lattice degeneration of the retina, suggesting that the gene may play an important role in the largely unknown pathophysiology of lattice degeneration of the retina.