Premium
Association of IGFN1 variant with polypoidal choroidal vasculopathy
Author(s) -
Wen Xiaofeng,
Liu Yu,
Yan Qi,
Liang Minling,
Tang Miao,
Liu Ran,
Pan Jianying,
Liu Qiuhui,
Chen Tingting,
Guo Shixin,
Liang Juanran,
Lu Lin,
Ding Xiaoyan,
Chen Wei,
Wei Lai
Publication year - 2018
Publication title -
the journal of gene medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.689
H-Index - 91
eISSN - 1521-2254
pISSN - 1099-498X
DOI - 10.1002/jgm.3007
Subject(s) - macular degeneration , odds ratio , medicine , exome sequencing , genotype , exome , allele , genetic association , minor allele frequency , genetics , phenotype , allele frequency , oncology , gene , single nucleotide polymorphism , ophthalmology , biology
Background Polypoidal choroidal vasculopathy (PCV) and neovascular age‐related macular degeneration (nAMD) share a similar phenotype but are different in their clinical manifestations, responses to treatment and prognosis. Whether PCV is a subtype of AMD or a distinct entity from nAMD remains unknown. Therefore, we performed a whole‐exome sequencing based association analysis to compare the genetic architecture of PCV and nAMD in Han Chinese. Methods Whole‐exome sequencing analysis was performed on 21 nAMD cases, 20 PCV cases and 20 healthy controls. As a follow‐up validation, 145 nAMD cases, 160 PCV cases and 193 controls were genotyped using the Sequenom MassARRAY platform (Sequenom, San Diego, CA, USA). Results A novel variant, c.6196A>G in the IGFN1 gene, was significantly associated with only PCV (combined p = 7.1 × 10 –11 , odds ratio = 9.44), but not with nAMD (combined p = 0.683, odds ratio = 1.30). The minor allele G conferred an increased risk of PCV. Conclusions The findings of the present study indicate that, although some of the susceptibility loci are shared between PCV and nAMD, a unique genetic signature may decide the pathogenesis of PCV.