Association of a PDCD1 Polymorphism With Sympathetic Ophthalmia in Han Chinese

Jing Deng; Jiayue Hu; Handan Tan; Guannan Su; Qingfeng Cao; Xinyue Huang; Aize Kijlstra; Peizeng Yang

doi:10.1167/iovs.17-22195

Association of a PDCD1 Polymorphism With Sympathetic Ophthalmia in Han Chinese

Jing Deng, Jiayue Hu, Handan Tan, Guannan Su, Qingfeng Cao, Xinyue Huang, Aize Kijlstra, Peizeng Yang^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

PURPOSE. Several studies have shown that sympathetic ophthalmia (SO) and Vogt-Koyanagi-Harada (VKH) disease possess many similarities concerning their clinical manifestations. The aim of this study was to investigate whether single nucleotide polymorphisms that have been shown to be associated with VKH disease in earlier studies may also be associated with SO.

METHODS. There were 114 SO patients and 1230 healthy controls included in a case-control study, whereby 24 VKH-related single nucleotide polymorphisms (SNPs) were tested. Genotyping was performed using the MassARRAY platform and iPLEX Gold Assay.

RESULTS. The results showed a significantly lower frequency of the PDCD1/rs2227981 GG genotype in SO (Pc = 7.85 x 10(-3), OR = 0.471). However, no apparent increase in the GA and AA genotype frequency was detected. Moreover, a significant decrease in the G allele frequency of PDCD1/rs2227981 was detected in SO (Pc = 5.08 x 10(-3), OR = 0.56).

CONCLUSIONS. This study shows that only PDCD1/rs2227981 contributes to the genetic susceptibility of SO, and that the other 23 susceptibility loci of VKH disease are probably not involved in the pathogenesis of this disease.

Original language	English
Pages (from-to)	4218-4222
Number of pages	5
Journal	Investigative Ophthalmology & Visual Science
Volume	58
Issue number	10
DOIs	https://doi.org/10.1167/iovs.17-22195
Publication status	Published - Aug 2017

Keywords

PDCD1
sympathetic ophthalmia
Vogt-Koyanagi-Harada disease
polymorphism
KOYANAGI-HARADA-SYNDROME
SYSTEMIC-LUPUS-ERYTHEMATOSUS
BEHCETS-DISEASE
GENE POLYMORPHISMS
VKH SYNDROME
RHEUMATOID-ARTHRITIS
PD-1 GENE
POPULATION
RISK
SUSCEPTIBILITY

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Cite this

@article{bc3a3d47672c4bd19286f8ce6ec66493,

title = "Association of a PDCD1 Polymorphism With Sympathetic Ophthalmia in Han Chinese",

abstract = "PURPOSE. Several studies have shown that sympathetic ophthalmia (SO) and Vogt-Koyanagi-Harada (VKH) disease possess many similarities concerning their clinical manifestations. The aim of this study was to investigate whether single nucleotide polymorphisms that have been shown to be associated with VKH disease in earlier studies may also be associated with SO.METHODS. There were 114 SO patients and 1230 healthy controls included in a case-control study, whereby 24 VKH-related single nucleotide polymorphisms (SNPs) were tested. Genotyping was performed using the MassARRAY platform and iPLEX Gold Assay.RESULTS. The results showed a significantly lower frequency of the PDCD1/rs2227981 GG genotype in SO (Pc = 7.85 x 10(-3), OR = 0.471). However, no apparent increase in the GA and AA genotype frequency was detected. Moreover, a significant decrease in the G allele frequency of PDCD1/rs2227981 was detected in SO (Pc = 5.08 x 10(-3), OR = 0.56).CONCLUSIONS. This study shows that only PDCD1/rs2227981 contributes to the genetic susceptibility of SO, and that the other 23 susceptibility loci of VKH disease are probably not involved in the pathogenesis of this disease.",

keywords = "PDCD1, sympathetic ophthalmia, Vogt-Koyanagi-Harada disease, polymorphism, KOYANAGI-HARADA-SYNDROME, SYSTEMIC-LUPUS-ERYTHEMATOSUS, BEHCETS-DISEASE, GENE POLYMORPHISMS, VKH SYNDROME, RHEUMATOID-ARTHRITIS, PD-1 GENE, POPULATION, RISK, SUSCEPTIBILITY",

author = "Jing Deng and Jiayue Hu and Handan Tan and Guannan Su and Qingfeng Cao and Xinyue Huang and Aize Kijlstra and Peizeng Yang",

year = "2017",

month = aug,

doi = "10.1167/iovs.17-22195",

language = "English",

volume = "58",

pages = "4218--4222",

journal = "Investigative Ophthalmology & Visual Science",

issn = "0146-0404",

publisher = "Association for Research in Vision and Ophthalmology",

number = "10",

}

TY - JOUR

T1 - Association of a PDCD1 Polymorphism With Sympathetic Ophthalmia in Han Chinese

AU - Deng, Jing

AU - Hu, Jiayue

AU - Tan, Handan

AU - Su, Guannan

AU - Cao, Qingfeng

AU - Huang, Xinyue

AU - Kijlstra, Aize

AU - Yang, Peizeng

PY - 2017/8

Y1 - 2017/8

N2 - PURPOSE. Several studies have shown that sympathetic ophthalmia (SO) and Vogt-Koyanagi-Harada (VKH) disease possess many similarities concerning their clinical manifestations. The aim of this study was to investigate whether single nucleotide polymorphisms that have been shown to be associated with VKH disease in earlier studies may also be associated with SO.METHODS. There were 114 SO patients and 1230 healthy controls included in a case-control study, whereby 24 VKH-related single nucleotide polymorphisms (SNPs) were tested. Genotyping was performed using the MassARRAY platform and iPLEX Gold Assay.RESULTS. The results showed a significantly lower frequency of the PDCD1/rs2227981 GG genotype in SO (Pc = 7.85 x 10(-3), OR = 0.471). However, no apparent increase in the GA and AA genotype frequency was detected. Moreover, a significant decrease in the G allele frequency of PDCD1/rs2227981 was detected in SO (Pc = 5.08 x 10(-3), OR = 0.56).CONCLUSIONS. This study shows that only PDCD1/rs2227981 contributes to the genetic susceptibility of SO, and that the other 23 susceptibility loci of VKH disease are probably not involved in the pathogenesis of this disease.

AB - PURPOSE. Several studies have shown that sympathetic ophthalmia (SO) and Vogt-Koyanagi-Harada (VKH) disease possess many similarities concerning their clinical manifestations. The aim of this study was to investigate whether single nucleotide polymorphisms that have been shown to be associated with VKH disease in earlier studies may also be associated with SO.METHODS. There were 114 SO patients and 1230 healthy controls included in a case-control study, whereby 24 VKH-related single nucleotide polymorphisms (SNPs) were tested. Genotyping was performed using the MassARRAY platform and iPLEX Gold Assay.RESULTS. The results showed a significantly lower frequency of the PDCD1/rs2227981 GG genotype in SO (Pc = 7.85 x 10(-3), OR = 0.471). However, no apparent increase in the GA and AA genotype frequency was detected. Moreover, a significant decrease in the G allele frequency of PDCD1/rs2227981 was detected in SO (Pc = 5.08 x 10(-3), OR = 0.56).CONCLUSIONS. This study shows that only PDCD1/rs2227981 contributes to the genetic susceptibility of SO, and that the other 23 susceptibility loci of VKH disease are probably not involved in the pathogenesis of this disease.

KW - PDCD1

KW - sympathetic ophthalmia

KW - Vogt-Koyanagi-Harada disease

KW - polymorphism

KW - KOYANAGI-HARADA-SYNDROME

KW - SYSTEMIC-LUPUS-ERYTHEMATOSUS

KW - BEHCETS-DISEASE

KW - GENE POLYMORPHISMS

KW - VKH SYNDROME

KW - RHEUMATOID-ARTHRITIS

KW - PD-1 GENE

KW - POPULATION

KW - RISK

KW - SUSCEPTIBILITY

U2 - 10.1167/iovs.17-22195

DO - 10.1167/iovs.17-22195

M3 - Article

C2 - 28846771

SN - 0146-0404

VL - 58

SP - 4218

EP - 4222

JO - Investigative Ophthalmology & Visual Science

JF - Investigative Ophthalmology & Visual Science

IS - 10

ER -