Genotype-Phenotype Association Study Reveals CFI-Rs13104777 to be a Protective Genetic Marker Against Acute Anterior Uveitis

Purpose: To investigate the roles of CFI, genotype-phenotype associations were identified in AAU. Methods: A case-control study was conducted in a total of 575 subjects consisting of 279 AAU patients and 296 healthy controls. Genotypic analyses were performed using Sequenom MassARRAY technology. Ana...

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Published inOcular immunology and inflammation Vol. 26; no. 1; pp. 51 - 56
Main Authors Huang, Xiu-Feng, Lin, Dan, Lin, Keng-Hung, Lee, Shi-Huang, Xia, Xiaoru, Yang, Yi-Mai, Zhu, Xue-Fei, Wang, Yu-Lin, Dai, Ma-Li, Wang, Qing-Feng, Jin, Zi-Bing, Wang, Yuqin
Format Journal Article
LanguageEnglish
Published England Taylor & Francis 02.01.2018
Subjects
Acute anterior uveitis
Acute Disease
Adult
association analysis
Case-Control Studies
CFI
Complement Factor I - genetics
Female
Gene Frequency
Genetic Association Studies
Genetic Markers - genetics
genotype-phenotype association
Genotyping Techniques
HLA-B27 Antigen - genetics
Humans
Male
Middle Aged
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
polymorphisms
Uveitis, Anterior - genetics
genotype-phenotype association
association analysis
polymorphisms
Acute anterior uveitis
CFI
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Abstract Purpose: To investigate the roles of CFI, genotype-phenotype associations were identified in AAU. Methods: A case-control study was conducted in a total of 575 subjects consisting of 279 AAU patients and 296 healthy controls. Genotypic analyses were performed using Sequenom MassARRAY technology. Analyses were stratified to a series of clinical ophthalmic confounding factors. Results: A lower frequency of the CFI-rs13104777 C allele was found in the AAU cohort compared with the controls, and, thus, was significantly associated with AAU pathogenesis (p = 0.041, OR = 0.712, 95% CI: 0.513-0.987). Stratified analysis also demonstrated the associations may differ depending on the HLA-B27 status and laterality status. Conclusions: This study has revealed a significant genetic role for CFI-rs13104777 in AAU. This influence may be dependent on human leukocyte antigen (HLA)-B27 and disease laterality. Overall, the results provide evidence for a pathogenic role for CFI in AAU and expand our knowledge on the genetic basis of AAU.
AbstractList Purpose: To investigate the roles of CFI, genotype-phenotype associations were identified in AAU. Methods: A case-control study was conducted in a total of 575 subjects consisting of 279 AAU patients and 296 healthy controls. Genotypic analyses were performed using Sequenom MassARRAY technology. Analyses were stratified to a series of clinical ophthalmic confounding factors. Results: A lower frequency of the CFI-rs13104777 C allele was found in the AAU cohort compared with the controls, and, thus, was significantly associated with AAU pathogenesis (p = 0.041, OR = 0.712, 95% CI: 0.513-0.987). Stratified analysis also demonstrated the associations may differ depending on the HLA-B27 status and laterality status. Conclusions: This study has revealed a significant genetic role for CFI-rs13104777 in AAU. This influence may be dependent on human leukocyte antigen (HLA)-B27 and disease laterality. Overall, the results provide evidence for a pathogenic role for CFI in AAU and expand our knowledge on the genetic basis of AAU.
To investigate the roles of CFI, genotype-phenotype associations were identified in AAU.PURPOSETo investigate the roles of CFI, genotype-phenotype associations were identified in AAU.A case-control study was conducted in a total of 575 subjects consisting of 279 AAU patients and 296 healthy controls. Genotypic analyses were performed using Sequenom MassARRAY technology. Analyses were stratified to a series of clinical ophthalmic confounding factors.METHODSA case-control study was conducted in a total of 575 subjects consisting of 279 AAU patients and 296 healthy controls. Genotypic analyses were performed using Sequenom MassARRAY technology. Analyses were stratified to a series of clinical ophthalmic confounding factors.A lower frequency of the CFI-rs13104777 C allele was found in the AAU cohort compared with the controls, and, thus, was significantly associated with AAU pathogenesis (p = 0.041, OR = 0.712, 95% CI: 0.513-0.987). Stratified analysis also demonstrated the associations may differ depending on the HLA-B27 status and laterality status.RESULTSA lower frequency of the CFI-rs13104777 C allele was found in the AAU cohort compared with the controls, and, thus, was significantly associated with AAU pathogenesis (p = 0.041, OR = 0.712, 95% CI: 0.513-0.987). Stratified analysis also demonstrated the associations may differ depending on the HLA-B27 status and laterality status.This study has revealed a significant genetic role for CFI-rs13104777 in AAU. This influence may be dependent on human leukocyte antigen (HLA)-B27 and disease laterality. Overall, the results provide evidence for a pathogenic role for CFI in AAU and expand our knowledge on the genetic basis of AAU.CONCLUSIONSThis study has revealed a significant genetic role for CFI-rs13104777 in AAU. This influence may be dependent on human leukocyte antigen (HLA)-B27 and disease laterality. Overall, the results provide evidence for a pathogenic role for CFI in AAU and expand our knowledge on the genetic basis of AAU.
To investigate the roles of CFI, genotype-phenotype associations were identified in AAU. A case-control study was conducted in a total of 575 subjects consisting of 279 AAU patients and 296 healthy controls. Genotypic analyses were performed using Sequenom MassARRAY technology. Analyses were stratified to a series of clinical ophthalmic confounding factors. A lower frequency of the CFI-rs13104777 C allele was found in the AAU cohort compared with the controls, and, thus, was significantly associated with AAU pathogenesis (p = 0.041, OR = 0.712, 95% CI: 0.513-0.987). Stratified analysis also demonstrated the associations may differ depending on the HLA-B27 status and laterality status. This study has revealed a significant genetic role for CFI-rs13104777 in AAU. This influence may be dependent on human leukocyte antigen (HLA)-B27 and disease laterality. Overall, the results provide evidence for a pathogenic role for CFI in AAU and expand our knowledge on the genetic basis of AAU.
Author Wang, Qing-Feng
Xia, Xiaoru
Lin, Dan
Yang, Yi-Mai
Dai, Ma-Li
Wang, Yuqin
Huang, Xiu-Feng
Lee, Shi-Huang
Wang, Yu-Lin
Lin, Keng-Hung
Zhu, Xue-Fei
Jin, Zi-Bing
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Keywords genotype-phenotype association
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Acute anterior uveitis
CFI
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Snippet Purpose: To investigate the roles of CFI, genotype-phenotype associations were identified in AAU. Methods: A case-control study was conducted in a total of 575...
To investigate the roles of CFI, genotype-phenotype associations were identified in AAU. A case-control study was conducted in a total of 575 subjects...
To investigate the roles of CFI, genotype-phenotype associations were identified in AAU.PURPOSETo investigate the roles of CFI, genotype-phenotype associations...
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SubjectTerms Acute anterior uveitis
Acute Disease
Adult
association analysis
Case-Control Studies
CFI
Complement Factor I - genetics
Female
Gene Frequency
Genetic Association Studies
Genetic Markers - genetics
genotype-phenotype association
Genotyping Techniques
HLA-B27 Antigen - genetics
Humans
Male
Middle Aged
Polymerase Chain Reaction
Polymorphism, Single Nucleotide
polymorphisms
Uveitis, Anterior - genetics
Title Genotype-Phenotype Association Study Reveals CFI-Rs13104777 to be a Protective Genetic Marker Against Acute Anterior Uveitis
URI https://www.tandfonline.com/doi/abs/10.1080/09273948.2016.1178305
https://www.ncbi.nlm.nih.gov/pubmed/27380463
https://www.proquest.com/docview/1826719061
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