title: Lack of Association between Genetic Polymorphisms of JAK-STAT Signaling Pathway Genes and Acute Anterior Uveitis in Han Chinese.
abstract: Purpose.This study aimed to investigate the association between single nucleotide polymorphisms (SNPs) of JAK-STAT signaling pathway genes and acute anterior uveitis (AAU) with or without ankylosing spondylitis (AS) in the Han Chinese population.Methods. Eleven SNPs of theJAK1,JAK2,STAT1,IRF1, andNOS2genes were analyzed in 443 AAU patients with AS, 486 AAU patients without AS, and 714 healthy controls. Genotyping was performed by PCR-RFLP assay or TaqMan® probe assay. The Chi-squared (χ2) test and multivariate logistic regression analysis were used to compare the distributions of alleles and genotypes between patients and controls.Pvalues were adjusted using Bonferroni correction.Results. We did not observe significant differences in the genotype and allele frequencies of any SNP between AAU patients with or without AS and healthy controls. Stratification analyses by gender and HLA-B27 status showed a boundary significant association between two SNPs (rs10975003 and rs10758669) inJAK2and AAU (P= 0.052 andP= 0.053, resp.).Conclusions. Our results indicated that genetic polymorphisms of the JAK-STAT signaling pathway genes may not be associated with AAU in the Han Chinese population.
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, China.
authors.forename: Ling
authors.identifier: 0000-0001-5340-0495
authors.initials: L
authors.lastname: Cheng
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, China.
authors.forename: Hongsong
authors.identifier: 0000-0002-1209-2104
authors.initials: H
authors.lastname: Yu
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, China.
authors.forename: Yan
authors.identifier: 0000-0002-7183-3048
authors.initials: Y
authors.lastname: Jiang
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, China.
authors.forename: Juan
authors.identifier: 0000-0002-7059-7792
authors.initials: J
authors.lastname: He
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, China.
authors.forename: Sisi
authors.identifier: 0000-0002-8422-5121
authors.initials: S
authors.lastname: Pu
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, China.
authors.forename: Xin
authors.identifier: 0000-0002-5298-1731
authors.initials: X
authors.lastname: Li
authors.affiliation: The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, China.
authors.forename: Li
authors.identifier: 0000-0003-0006-4066
authors.initials: L
authors.lastname: Zhang
mesh_terms: D000328:Adult; D002681:China; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D015796:HLA-B27 Antigen / Q000235:genetics; D006801:Humans; D053614:Janus Kinase 2 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D050794:STAT1 Transcription Factor / Q000235:genetics*; D012727:Sex Characteristics; D015398:Signal Transduction; D013167:Spondylitis, Ankylosing / Q000150:complications / Q000235:genetics* / Q000473:pathology; D014606:Uveitis, Anterior / Q000150:complications / Q000235:genetics* / Q000473:pathology
chemical_list: D015796:HLA-B27 Antigen; D050794:STAT1 Transcription Factor; C494079:STAT1 protein, human; C507924:JAK2 protein, human; D053614:Janus Kinase 2