Association of a PDCD1 Polymorphism With Sympathetic Ophthalmia in Han Chinese

Autor: Xinyue Huang, Guannan Su, Jing Deng, Jiayue Hu, Peizeng Yang, Aize Kijlstra, Qingfeng Cao, Handan Tan
Přispěvatelé: RS: MHeNs - R3 - Neuroscience, MUMC+: MA UECM Oogartsen MUMC (9)
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Male
Genotyping Techniques
Programmed Cell Death 1 Receptor
VKH SYNDROME
SUSCEPTIBILITY
polymorphism
0302 clinical medicine
Gene Frequency
Polymorphism (computer science)
Genotype
Medicine
SYSTEMIC-LUPUS-ERYTHEMATOSUS
Child
KOYANAGI-HARADA-SYNDROME
POPULATION
Genetics
RISK
education.field_of_study
BEHCETS-DISEASE
Middle Aged
030220 oncology & carcinogenesis
Ophthalmia
Sympathetic
Female
Adult
China
Adolescent
sympathetic ophthalmia
Population
Single-nucleotide polymorphism
Polymorphism
Single Nucleotide
GENE POLYMORPHISMS
03 medical and health sciences
Young Adult
Asian People
PD-1 GENE
Genetic predisposition
Humans
Genetic Predisposition to Disease
education
Allele frequency
Genotyping
Aged
business.industry
PDCD1
eye diseases
Genotype frequency
RHEUMATOID-ARTHRITIS
Case-Control Studies
Immunology
030221 ophthalmology & optometry
business
Uveomeningoencephalitic Syndrome
Vogt-Koyanagi-Harada disease
Zdroj: Investigative Ophthalmology & Visual Science, 58(10), 4218-4222. Association for Research in Vision and Ophthalmology
ISSN: 0146-0404
DOI: 10.1167/iovs.17-22195
Popis: 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.
Databáze: OpenAIRE
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