PMID- 29323771
OWN - NLM
STAT- MEDLINE
DCOM- 20190418
LR  - 20221207
IS  - 1521-2254 (Electronic)
IS  - 1099-498X (Linking)
VI  - 20
IP  - 2-3
DP  - 2018 Feb
TI  - Association of IGFN1 variant with polypoidal choroidal vasculopathy.
PG  - e3007
LID - 10.1002/jgm.3007 [doi]
AB  - 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 x 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.
CI  - Copyright (c) 2018 John Wiley & Sons, Ltd.
FAU - Wen, Xiaofeng
AU  - Wen X
AD  - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen 
      University, Guangzhou, China.
FAU - Liu, Yu
AU  - Liu Y
AD  - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen 
      University, Guangzhou, China.
AD  - Department of Biostatistics, University of Pittsburgh, Pittsburgh, PA, USA.
AD  - Division of Pulmonary Medicine, Allergy and Immunology, Children's Hospital of 
      Pittsburgh of UPMC, Pittsburgh, PA, USA.
FAU - Yan, Qi
AU  - Yan Q
AD  - Department of Biostatistics, University of Pittsburgh, Pittsburgh, PA, USA.
AD  - Division of Pulmonary Medicine, Allergy and Immunology, Children's Hospital of 
      Pittsburgh of UPMC, Pittsburgh, PA, USA.
FAU - Liang, Minling
AU  - Liang M
AD  - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen 
      University, Guangzhou, China.
FAU - Tang, Miao
AU  - Tang M
AD  - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen 
      University, Guangzhou, China.
FAU - Liu, Ran
AU  - Liu R
AD  - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen 
      University, Guangzhou, China.
FAU - Pan, Jianying
AU  - Pan J
AD  - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen 
      University, Guangzhou, China.
FAU - Liu, Qiuhui
AU  - Liu Q
AD  - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen 
      University, Guangzhou, China.
FAU - Chen, Tingting
AU  - Chen T
AD  - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen 
      University, Guangzhou, China.
FAU - Guo, Shixin
AU  - Guo S
AD  - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen 
      University, Guangzhou, China.
FAU - Liang, Juanran
AU  - Liang J
AD  - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen 
      University, Guangzhou, China.
FAU - Lu, Lin
AU  - Lu L
AD  - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen 
      University, Guangzhou, China.
FAU - Ding, Xiaoyan
AU  - Ding X
AD  - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen 
      University, Guangzhou, China.
FAU - Chen, Wei
AU  - Chen W
AD  - Department of Biostatistics, University of Pittsburgh, Pittsburgh, PA, USA.
AD  - Division of Pulmonary Medicine, Allergy and Immunology, Children's Hospital of 
      Pittsburgh of UPMC, Pittsburgh, PA, USA.
FAU - Wei, Lai
AU  - Wei L
AD  - State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen 
      University, Guangzhou, China.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20180212
PL  - England
TA  - J Gene Med
JT  - The journal of gene medicine
JID - 9815764
RN  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (Carrier Proteins)
RN  - 0 (IGFN1 protein, human)
SB  - IM
MH  - Adaptor Proteins, Signal Transducing
MH  - Aged
MH  - Carrier Proteins/*genetics
MH  - Choroidal Neovascularization/*genetics/pathology
MH  - Female
MH  - Genetic Association Studies
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - Humans
MH  - Macular Degeneration/*genetics/pathology
MH  - Male
MH  - Middle Aged
MH  - Polymorphism, Single Nucleotide
MH  - Exome Sequencing
OTO - NOTNLM
OT  - IGFN1
OT  - age-related macular degeneration
OT  - polypoidal choroidal vasculopathy
EDAT- 2018/01/13 06:00
MHDA- 2019/04/19 06:00
CRDT- 2018/01/12 06:00
PHST- 2017/04/30 00:00 [received]
PHST- 2017/12/28 00:00 [revised]
PHST- 2017/12/29 00:00 [accepted]
PHST- 2018/01/13 06:00 [pubmed]
PHST- 2019/04/19 06:00 [medline]
PHST- 2018/01/12 06:00 [entrez]
AID - 10.1002/jgm.3007 [doi]
PST - ppublish
SO  - J Gene Med. 2018 Feb;20(2-3):e3007. doi: 10.1002/jgm.3007. Epub 2018 Feb 12.