Lack of Association between Genetic Polymorphisms of JAK-STAT Signaling Pathway Genes and Acute Anterior Uveitis in Han Chinese

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 the JAK1, JAK2, STAT1, IRF1,...

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Published in:BioMed research international 2016-01, Vol.2016 (2016), p.1-9
Main Authors: Zhang, Li, Pu, Sisi, He, Juan, Jiang, Yan, Yu, Hongsong, Cheng, Ling, Li, Xin
Format: Article
Language:English
Subjects:
Adult
Analysis
Autoimmune diseases
China
Deoxyribonucleic acid
Disease
DNA
Female
Genes
Genetic aspects
Genetic Association Studies
Genetic Predisposition to Disease
HLA-B27 Antigen - genetics
Hospitals
Humans
Janus Kinase 2 - genetics
Kinases
Lymphocytes
Male
Middle Aged
Minority & ethnic groups
Pathogenesis
Polymorphism
Polymorphism, Single Nucleotide
Population
Rheumatoid arthritis
Sex Characteristics
Signal Transduction
Single nucleotide polymorphisms
Spondylitis, Ankylosing - complications
Spondylitis, Ankylosing - genetics
Spondylitis, Ankylosing - pathology
STAT1 Transcription Factor - genetics
Studies
Uveitis
Uveitis, Anterior - complications
Uveitis, Anterior - genetics
Uveitis, Anterior - pathology
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creator Zhang, Li
Pu, Sisi
He, Juan
Jiang, Yan
Yu, Hongsong
Cheng, Ling
Li, Xin
description 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 the JAK1, JAK2, STAT1, IRF1, and NOS2 genes 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. P values 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) in JAK2 and AAU (P=0.052 and P=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.
doi_str_mv 10.1155/2016/5896906
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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 the JAK1, JAK2, STAT1, IRF1, and NOS2 genes 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. P values 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) in JAK2 and AAU (P=0.052 and P=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.</description><identifier>ISSN: 2314-6133</identifier><identifier>EISSN: 2314-6141</identifier><identifier>DOI: 10.1155/2016/5896906</identifier><identifier>PMID: 27965977</identifier><language>eng</language><publisher>Cairo, Egypt: Hindawi Publishing Corporation</publisher><subject>Adult ; Analysis ; Autoimmune diseases ; China ; Deoxyribonucleic acid ; Disease ; DNA ; Female ; Genes ; Genetic aspects ; Genetic Association Studies ; Genetic Predisposition to Disease ; HLA-B27 Antigen - genetics ; Hospitals ; Humans ; Janus Kinase 2 - genetics ; Kinases ; Lymphocytes ; Male ; Middle Aged ; Minority &amp; ethnic groups ; Pathogenesis ; Polymorphism ; Polymorphism, Single Nucleotide ; Population ; Rheumatoid arthritis ; Sex Characteristics ; Signal Transduction ; Single nucleotide polymorphisms ; Spondylitis, Ankylosing - complications ; Spondylitis, Ankylosing - genetics ; Spondylitis, Ankylosing - pathology ; STAT1 Transcription Factor - genetics ; Studies ; Uveitis ; Uveitis, Anterior - complications ; Uveitis, Anterior - genetics ; Uveitis, Anterior - pathology</subject><ispartof>BioMed research international, 2016-01, Vol.2016 (2016), p.1-9</ispartof><rights>Copyright © 2016 Ling Cheng et al.</rights><rights>COPYRIGHT 2016 John Wiley &amp; Sons, Inc.</rights><rights>Copyright © 2016 Ling Cheng et al. 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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 the JAK1, JAK2, STAT1, IRF1, and NOS2 genes 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. P values 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. 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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 the JAK1, JAK2, STAT1, IRF1, and NOS2 genes 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. P values 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) in JAK2 and AAU (P=0.052 and P=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.</abstract><cop>Cairo, Egypt</cop><pub>Hindawi Publishing Corporation</pub><pmid>27965977</pmid><doi>10.1155/2016/5896906</doi><tpages>9</tpages><orcidid>https://orcid.org/0000-0002-7059-7792</orcidid><orcidid>https://orcid.org/0000-0003-0006-4066</orcidid><orcidid>https://orcid.org/0000-0001-5340-0495</orcidid><orcidid>https://orcid.org/0000-0002-7183-3048</orcidid><orcidid>https://orcid.org/0000-0002-5298-1731</orcidid><orcidid>https://orcid.org/0000-0002-8422-5121</orcidid><orcidid>https://orcid.org/0000-0002-1209-2104</orcidid><oa>free_for_read</oa></addata></record>
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subjects Adult
Analysis
Autoimmune diseases
China
Deoxyribonucleic acid
Disease
DNA
Female
Genes
Genetic aspects
Genetic Association Studies
Genetic Predisposition to Disease
HLA-B27 Antigen - genetics
Hospitals
Humans
Janus Kinase 2 - genetics
Kinases
Lymphocytes
Male
Middle Aged
Minority & ethnic groups
Pathogenesis
Polymorphism
Polymorphism, Single Nucleotide
Population
Rheumatoid arthritis
Sex Characteristics
Signal Transduction
Single nucleotide polymorphisms
Spondylitis, Ankylosing - complications
Spondylitis, Ankylosing - genetics
Spondylitis, Ankylosing - pathology
STAT1 Transcription Factor - genetics
Studies
Uveitis
Uveitis, Anterior - complications
Uveitis, Anterior - genetics
Uveitis, Anterior - pathology
title Lack of Association between Genetic Polymorphisms of JAK-STAT Signaling Pathway Genes and Acute Anterior Uveitis in Han Chinese
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