Association of a CARD9 Gene Haplotype with Behcet's Disease in a Chinese Han Population

Fuzhen Li; Liying Shi; Liping Du; Na Li; Qingfeng Cao; Xin Ma; Tingling Pang; Yizong Liu; Aize Kijlstra; Guangming Wan; Peizeng Yang

doi:10.1080/09273948.2019.1677915

Association of a CARD9 Gene Haplotype with Behcet's Disease in a Chinese Han Population

Fuzhen Li, Liying Shi, Liping Du, Na Li, Qingfeng Cao, Xin Ma, Tingling Pang, Yizong Liu, Aize Kijlstra, Guangming Wan, Peizeng Yang^*

^*Corresponding author for this work

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

Abstract

Purpose: To investigate the association of CARD9 gene polymorphisms with Behcet's disease (BD) and acute anterior uveitis (AAU) in a Chinese Han population. Methods: We performed a case-control association study in 480 patients with BD, 1151 patients with AAU and 1440 healthy controls. Six single nucleotide polymorphisms (SNPs) of CARD9 were genotyped, including rs4077515, rs11145769, rs59902911, rs9411205, rs4073153 and rs1135314. Results: None of the individual SNPs in the CARD9 gene showed an association with either BD or AAU. Haplotype analysis revealed a significant decrease of the frequency of a CARD9 gene haplotype CGCCA (rs4077515, rs11145769, rs59902911, rs9411205, rs4073153) in BD when compared to healthy controls (Pc = 0.012, OR = 0.585, 95%CI = 0.409 similar to 0.837). Haplotype analysis did not show an association between CARD9 and AAU. Conclusions: This study shows that a five-SNP haplotype of the CARD9 gene (CGCCA) may be a protective factor for BD with ocular involvement, but not for AAU.

Original language	English
Pages (from-to)	219-227
Number of pages	9
Journal	Ocular Immunology and Inflammation
Volume	29
Issue number	2
Early online date	2 Nov 2019
DOIs	https://doi.org/10.1080/09273948.2019.1677915
Publication status	Published - 17 Feb 2021

Keywords

Acute anterior uveitis
Behcet's disease
CARD9
haplotype
single nucleotide polymorphism
ACUTE ANTERIOR UVEITIS
GENOME-WIDE ASSOCIATION
ANKYLOSING-SPONDYLITIS
LINKAGE DISEQUILIBRIUM
SUSCEPTIBILITY LOCI
CLINICAL-FEATURES
SIGNALING PATHWAY
RISK LOCI
VARIANTS
INNATE

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10.1080/09273948.2019.1677915

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@article{57b91b65c8a447f6b2d4486e00f4ecef,

title = "Association of a CARD9 Gene Haplotype with Behcet's Disease in a Chinese Han Population",

abstract = "Purpose: To investigate the association of CARD9 gene polymorphisms with Behcet's disease (BD) and acute anterior uveitis (AAU) in a Chinese Han population. Methods: We performed a case-control association study in 480 patients with BD, 1151 patients with AAU and 1440 healthy controls. Six single nucleotide polymorphisms (SNPs) of CARD9 were genotyped, including rs4077515, rs11145769, rs59902911, rs9411205, rs4073153 and rs1135314. Results: None of the individual SNPs in the CARD9 gene showed an association with either BD or AAU. Haplotype analysis revealed a significant decrease of the frequency of a CARD9 gene haplotype CGCCA (rs4077515, rs11145769, rs59902911, rs9411205, rs4073153) in BD when compared to healthy controls (Pc = 0.012, OR = 0.585, 95%CI = 0.409 similar to 0.837). Haplotype analysis did not show an association between CARD9 and AAU. Conclusions: This study shows that a five-SNP haplotype of the CARD9 gene (CGCCA) may be a protective factor for BD with ocular involvement, but not for AAU.",

keywords = "Acute anterior uveitis, Behcet's disease, CARD9, haplotype, single nucleotide polymorphism, ACUTE ANTERIOR UVEITIS, GENOME-WIDE ASSOCIATION, ANKYLOSING-SPONDYLITIS, LINKAGE DISEQUILIBRIUM, SUSCEPTIBILITY LOCI, CLINICAL-FEATURES, SIGNALING PATHWAY, RISK LOCI, VARIANTS, INNATE",

author = "Fuzhen Li and Liying Shi and Liping Du and Na Li and Qingfeng Cao and Xin Ma and Tingling Pang and Yizong Liu and Aize Kijlstra and Guangming Wan and Peizeng Yang",

note = "Funding Information: This work was supported by “51282” Project for Henan Medical Science and Technology Innovative Talents; Joint Funds of the National Natural Science Foundation of China [U1304812]; Medical Scientific and Technological Project of Henan Province [201602092]; Scientific and Technological Project of Henan Province [172102310374]; Natural Science Foundation Major International (Regional) Joint Research Project [81720108009]; and National Natural Science Foundation Project of China [81770914]. We thank all participants for their contribution to the present study. Publisher Copyright: {\textcopyright} 2020 Taylor & Francis Group, LLC.",

year = "2021",

month = feb,

day = "17",

doi = "10.1080/09273948.2019.1677915",

language = "English",

volume = "29",

pages = "219--227",

journal = "Ocular Immunology and Inflammation",

issn = "0927-3948",

publisher = "Routledge/Taylor & Francis Group",

number = "2",

}

TY - JOUR

T1 - Association of a CARD9 Gene Haplotype with Behcet's Disease in a Chinese Han Population

AU - Li, Fuzhen

AU - Shi, Liying

AU - Du, Liping

AU - Li, Na

AU - Cao, Qingfeng

AU - Ma, Xin

AU - Pang, Tingling

AU - Liu, Yizong

AU - Kijlstra, Aize

AU - Wan, Guangming

AU - Yang, Peizeng

N1 - Funding Information: This work was supported by “51282” Project for Henan Medical Science and Technology Innovative Talents; Joint Funds of the National Natural Science Foundation of China [U1304812]; Medical Scientific and Technological Project of Henan Province [201602092]; Scientific and Technological Project of Henan Province [172102310374]; Natural Science Foundation Major International (Regional) Joint Research Project [81720108009]; and National Natural Science Foundation Project of China [81770914]. We thank all participants for their contribution to the present study. Publisher Copyright: © 2020 Taylor & Francis Group, LLC.

PY - 2021/2/17

Y1 - 2021/2/17

N2 - Purpose: To investigate the association of CARD9 gene polymorphisms with Behcet's disease (BD) and acute anterior uveitis (AAU) in a Chinese Han population. Methods: We performed a case-control association study in 480 patients with BD, 1151 patients with AAU and 1440 healthy controls. Six single nucleotide polymorphisms (SNPs) of CARD9 were genotyped, including rs4077515, rs11145769, rs59902911, rs9411205, rs4073153 and rs1135314. Results: None of the individual SNPs in the CARD9 gene showed an association with either BD or AAU. Haplotype analysis revealed a significant decrease of the frequency of a CARD9 gene haplotype CGCCA (rs4077515, rs11145769, rs59902911, rs9411205, rs4073153) in BD when compared to healthy controls (Pc = 0.012, OR = 0.585, 95%CI = 0.409 similar to 0.837). Haplotype analysis did not show an association between CARD9 and AAU. Conclusions: This study shows that a five-SNP haplotype of the CARD9 gene (CGCCA) may be a protective factor for BD with ocular involvement, but not for AAU.

AB - Purpose: To investigate the association of CARD9 gene polymorphisms with Behcet's disease (BD) and acute anterior uveitis (AAU) in a Chinese Han population. Methods: We performed a case-control association study in 480 patients with BD, 1151 patients with AAU and 1440 healthy controls. Six single nucleotide polymorphisms (SNPs) of CARD9 were genotyped, including rs4077515, rs11145769, rs59902911, rs9411205, rs4073153 and rs1135314. Results: None of the individual SNPs in the CARD9 gene showed an association with either BD or AAU. Haplotype analysis revealed a significant decrease of the frequency of a CARD9 gene haplotype CGCCA (rs4077515, rs11145769, rs59902911, rs9411205, rs4073153) in BD when compared to healthy controls (Pc = 0.012, OR = 0.585, 95%CI = 0.409 similar to 0.837). Haplotype analysis did not show an association between CARD9 and AAU. Conclusions: This study shows that a five-SNP haplotype of the CARD9 gene (CGCCA) may be a protective factor for BD with ocular involvement, but not for AAU.

KW - Acute anterior uveitis

KW - Behcet's disease

KW - CARD9

KW - haplotype

KW - single nucleotide polymorphism

KW - ACUTE ANTERIOR UVEITIS

KW - GENOME-WIDE ASSOCIATION

KW - ANKYLOSING-SPONDYLITIS

KW - LINKAGE DISEQUILIBRIUM

KW - SUSCEPTIBILITY LOCI

KW - CLINICAL-FEATURES

KW - SIGNALING PATHWAY

KW - RISK LOCI

KW - VARIANTS

KW - INNATE

U2 - 10.1080/09273948.2019.1677915

DO - 10.1080/09273948.2019.1677915

M3 - Article

C2 - 31671006

SN - 0927-3948

VL - 29

SP - 219

EP - 227

JO - Ocular Immunology and Inflammation

JF - Ocular Immunology and Inflammation

IS - 2

ER -

Association of a CARD9 Gene Haplotype with Behcet's Disease in a Chinese Han Population

Abstract

Keywords

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