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GWAS Study

A prospective multicenter study on genome wide associations to ranibizumab treatment outcome for age-related macular degeneration.

Yamashiro K, Mori K, Honda S et al.

28835685 PubMed ID
GWAS Study Type
461 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

YK
Yamashiro K
MK
Mori K
HS
Honda S
KM
Kano M
YY
Yanagi Y
OA
Obana A
SY
Sakurada Y
ST
Sato T
NY
Nagai Y
HT
Hikichi T
KY
Kataoka Y
HC
Hara C
KY
Koyama Y
KH
Koizumi H
YM
Yoshikawa M
MM
Miyake M
NI
Nakata I
TT
Tsuchihashi T
HK
Horie-Inoue K
MW
Matsumiya W
OM
Ogasawara M
OR
Obata R
YS
Yoneyama S
MH
Matsumoto H
OM
Ohnaka M
KH
Kitamei H
SK
Sayanagi K
OS
Ooto S
TH
Tamura H
OA
Oishi A
KS
Kabasawa S
UK
Ueyama K
MA
Miki A
KN
Kondo N
BH
Bessho H
SM
Saito M
TH
Takahashi H
TX
Tan X
AK
Azuma K
KW
Kikushima W
MR
Mukai R
OA
Ohira A
GF
Gomi F
MK
Miyata K
TK
Takahashi K
KS
Kishi S
IH
Iijima H
ST
Sekiryu T
IT
Iida T
AT
Awata T
IS
Inoue S
YR
Yamada R
MF
Matsuda F
TA
Tsujikawa A
NA
Negi A
YS
Yoneya S
IT
Iwata T
YN
Yoshimura N
Chapter II

Abstract

Summary of the research findings

We conducted a genome-wide association study (GWAS) on the outcome of anti-VEGF treatment for exudative age-related macular degeneration (AMD) in a prospective cohort. Four hundred and sixty-one treatment-naïve AMD patients were recruited at 13 clinical centers and all patients were treated with 3 monthly injections of ranibizumab followed by pro re nata regimen treatment for one year. Genomic DNA was collected from all patients for a 2-stage GWAS on achieving dry macula after the initial treatment, the requirement for an additional treatment, and visual acuity changes during the 12-month observation period. In addition, we evaluated 9 single-nucleotide polymorphisms (SNPs) in 8 previously reported AMD-related genes for their associations with treatment outcome. The discovery stage with 256 patients evaluated 8,480,849 SNPs, but no SNPs showed genome-wide level significance in association with treatment outcomes. Although SNPs with P-values of <5 × 10-6 were evaluated in replication samples of 205 patients, no SNP was significantly associated with treatment outcomes. Among AMD-susceptibility genes, rs10490924 in ARMS2/HTRA1 was significantly associated with additional treatment requirement in the discovery stage (P = 0.0023), and pooled analysis with the replication stage further confirmed this association (P = 0.0013). ARMS2/HTRA1 polymorphism might be able to predict the frequency of injection after initial ranibizumab treatment.

256 Japanese ancestry treated individuals

Chapter III

Study Statistics

Key metrics and study information

461
Total Participants
GWAS
Study Type
Yes
Replicated
205 Japanese ancestry treated individuals
Replication Participants
East Asian
Ancestry
Japan
Recruitment Country
Chapter IV

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