|
|
|
|
|
|
|
Free Newsletters
Archive
My Subscriptions
News by Subject
News by Disease
News by Date
PLoS
Search News
Post Your News
JoVE
Job Seeker Login
Most Recent Jobs
Browse Biotech Jobs
Search Jobs
Post Resume
Career Fairs
Career Resources
For Employers
Regional News
US & Canada
Biotech Bay
Biotech Beach
Genetown
Pharm Country
BioCapital
BioMidwest
Bio NC
BioForest
Southern Pharm
BioCanada East
US Device
Europe
Asia
Market Summary
News
IPOs
Company Profiles
Companies
Events
Research Store
Biotech Events
Post an Event
Real Estate
Business Opportunities
|
|
|
|
PLoS By Category | Recent
PLoS Articles
|
|
Ophthalmology
|
Common Variants in the COL4A4 Gene Confer Susceptibility to Lattice Degeneration of the Retina
Published:
Tuesday, June 19, 2012
Author:
Akira Meguro et al.
by Akira Meguro, Hidenao Ideta, Masao Ota, Norihiko Ito, Ryuichi Ideta, Junichi Yonemoto, Masaki Takeuchi, Riyo Uemoto, Tadayuki Nishide, Yasuhito Iijima, Tatsukata Kawagoe, Eiichi Okada, Tomoko Shiota, Yuta Hagihara, Akira Oka, Hidetoshi Inoko, Nobuhisa Mizuki
Lattice degeneration of the retina is a vitreoretinal disorder characterized by a visible fundus lesion predisposing the patient to retinal tears and detachment. The etiology of this degeneration is still uncertain, but it is likely that both genetic and environmental factors play important roles in its development. To identify genetic susceptibility regions for lattice degeneration of the retina, we performed a genome-wide association study (GWAS) using a dense panel of 23,465 microsatellite markers covering the entire human genome. This GWAS in a Japanese cohort (294 patients with lattice degeneration and 294 controls) led to the identification of one microsatellite locus, D2S0276i, in the collagen type IV alpha 4 (COL4A4) gene on chromosome 2q36.3. To validate the significance of this observation, we evaluated the D2S0276i region in the GWAS cohort and in an independent Japanese cohort (280 patients and 314 controls) using D2S0276i and 47 single nucleotide polymorphisms covering the region. The strong associations were observed in D2S0276i and rs7558081 in the COL4A4 gene (Pc?=?5.8×10-6, OR?=?0.63 and Pc?=?1.0×10-5, OR?=?0.69 in a total of 574 patients and 608 controls, respectively). Our findings suggest that variants in the COL4A4 gene may contribute to the development of lattice degeneration of the retina.
More...
|
|
|
 |
|
|
|
|
|
|
|
|