We performed a candidate gene approach to evaluate the association between COL2A1 SNPs and lattice degeneration in a Japanese population.įor this study, we enrolled 634 unrelated patients with lattice degeneration of the retina and 1,694 unrelated healthy controls, all of Japanese descent, and these numbers included all patients and controls used in our previous GWAS. In the present study, we aimed to investigate the role of COL2A1 gene variants in the development of lattice degeneration of the retina.
Given that the GWAS has a poorer mapping resolution and lower detection power compared to GWAS using single-nucleotide polymorphisms (SNPs), it could have failed to assess properly the association between COL2A1 variants and lattice degeneration. However, our previous GWAS using microsatellite markers has not identified any significant association between COL2A1 variants and lattice degeneration of the retina. These findings suggest that COL2A1 variants may contribute to the development of inherited disorders associated with retinal detachment. Moreover, it is well known that COL2A1 mutations are associated with Stickler syndrome type I, which carries a high risk of RRD. Mutations in the collagen type II alpha 1 ( COL2A1) gene are reportedly associated with rhegmatogenous retinal detachment (RRD), the most common type of retinal detachment. To date, our GWAS is the only genetic study to identify susceptibility genes for lattice degeneration. Type IV collagen is the major structural component of the basement membranes that predominantly comprise the retinal structure thus, we speculated that COL4A4 protein aberrations caused by genetic variants may promote retinal thinning in cases of retinal lattice degeneration. In 2012, we reported a genome-wide association study (GWAS) of lattice degeneration of the retina using 23,465 microsatellite markers in a Japanese population, in which we identified the collagen type IV alpha 4 ( COL4A4) gene as a candidate susceptibility determinant. The exact pathophysiological mechanisms underlying lattice degeneration remain uncertain, but it is suggested that polygenic or multifactorial factors contribute to its etiology. Lattice degeneration associated with retinal detachment is described in multiple hereditary disorders, including Stickler syndrome, Marfan syndrome, Ehlers-Danlos syndrome, and Wagner syndrome. In several ethnic populations, lattice degeneration is causally associated with 30%–60% of retinal detachment cases.
Lattice degeneration is common in the general population, with reported prevalence rates of 6%–10.7% among Caucasians and Asians and 1.8% among Africans. After posterior vitreous detachment, vitreous traction at sites of substantial vitreoretinal adhesion often leads to retinal detachment. Lattice degeneration of the retina is a vitreoretinal disorder characterized by focal retinal thinning associated with liquefaction of the overlying vitreous gel and by firm vitreoretinal adherence to lesion margins.
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