Association of a <i>CARD9</i> Gene Haplotype with Behcet’s Disease in a Chinese Han Population

Li, Fuzhen; Shi, Lei; Du, Liping; Li, Na; Cao, Qingfeng; Ma, Xiaojing; Pang, Tingting; Liu, Yizong; Kijlstra, Aize; Wan, Guangming; Yang, Peizeng

doi:10.1080/09273948.2019.1677915

Cited by 5 publications

(4 citation statements)

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“…Moreover, CARD9 rs59902911 were found to be associated with RA in European Americans ( P = 1.01 × 10 –6 ) [ 18 ]. Nevertheless, in our study, uncorrected p values indicated that individuals carrying the rs59902911 CC genotype and C allele had an increased susceptibility of VKH disease, but the significance was lost after using Bonferroni correction, which was a similar observation to that of an earlier study on Behcet’s disease (BD) [ 27 ]. The correlation between SNP rs59902911 and susceptibility to VKH disease should be confirmed in other races in future studies.…”

Section: Discussionsupporting

confidence: 87%

“…The T allele of rs74437127 and rs3812555, a protective allele for VKH disease, was found in the protective haplotypes ATG (order of SNPs: rs2306572, rs74437127, and rs45596236) and GCTTA (order of SNPs: rs4073153, rs9411205, rs3812555, rs59902911, and rs11145769), respectively. Similar CARD9 haplotype results have been reported for BD [27]; however, the haplotype composition differed from that found in our study. The biological functions of the ATG and GCTTA haplotypes described in the current study had not been reported earlier.…”

Section: Discussionsupporting

confidence: 84%

“…The primers of the three tag SNPs (rs3773722, rs7634447, and rs11130351 in PRKCD ) did not pass quality test; therefore, 10 tag SNPs of PRKCD were finally chosen. In addition, five tag SNPs captured genetic information on 16 common CARD9 SNPs [ 27 ]. In total, 15 candidate tag SNPs were selected in our study: 10 tag SNPs for PRKCD (rs4687706, rs3773732, rs6797662, rs6764111, rs3821689, rs1308486, rs78346230, rs2306572, rs74437127, and rs45596236) and five tag SNPs for CARD9 (rs4073153, rs9411205, rs3812555, rs59902911, and rs11145769).…”

Section: Methodsmentioning

confidence: 99%

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Genetic association of PRKCD and CARD9 polymorphisms with Vogt–Koyanagi–Harada disease in the Chinese Han population

Zhou

Cai²,

Xie³

et al. 2023

Hum Genomics

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Background Protein kinase C delta (PRKCD) and caspase recruitment domain family member 9 (CARD9) are genes involved in B and T cell activation, and cytokine production, which are vital mechanisms underlying autoimmune disease development. This study aimed to explore the association of the PRKCD and CARD9 genes with Vogt–Koyanagi–Harada disease (VKH) disease. The case–control study was performed to in 912 patients with VKH and 878 normal controls. MassARRAY system, SHEsis online platform, real-time PCR, and enzyme-linked immunosorbent assay were used to detect genotyping, haplotyping, mRNA expression, and cytokine levels, respectively. Results We found that rs74437127 C allele of PRKCD, rs3812555 CC genotype, and C allele of CARD9 were associated with increased susceptibility of VKH (Pc = 0.020, OR = 1.624; Pc = 2.04 × 10–5, OR = 1.810; Pc = 2.76 × 10–5, OR = 1.698, respectively). However, the rs74437127 T allele, and rs3812555 TC genotype and T allele were linked with decreased susceptibility to VKH (Pc = 0.020, OR = 0.616; Pc = 7.85 × 10–5, OR = 0.559; Pc = 2.76 × 10–5, OR = 0.589, respectively). PRKCD ATG and CARD9 GCTTA haplotypes decreased susceptibility to VKH (Pc = 3.11 × 10–3, OR = 0.594; Pc = 5.00 × 10–3, OR = 0.639, respectively). Functional studies on rs3812555 genotyped individuals revealed that CC carriers had significantly higher CARD9 mRNA expression and tumour necrosis factor-α production than TC/TT carriers (P = 1.00 × 10–4; P = 2.00 × 10–3, respectively). Conclusions We found an association between PRKCD rs74437127 and CARD9 rs3812555 polymorphisms and VKH susceptibility and revealed that the increased susceptibility of rs3812555 for VKH may be mediated by regulating CARD9 gene expression and the production of pro-inflammatory cytokines, such as TNF-α.

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Section: Discussionsupporting

confidence: 87%

Section: Discussionsupporting

confidence: 84%

Section: Methodsmentioning

confidence: 99%

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Genetic association of PRKCD and CARD9 polymorphisms with Vogt–Koyanagi–Harada disease in the Chinese Han population

Zhou

Cai²,

Xie³

et al. 2023

Hum Genomics

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“…Table 4), and we therefore propose that rs10870077 has a cis functional effect on CARD9 signaling via modification of CARD9 expression. In addition, the SNP rs10870149 showed a nominal association with AS in a small GWAS [ 37 ], and the haplotype CGCCA containing rs9411205 is reported to be a protective factor against BD [ 38 ]. Moreover, SNPs rs10747047 and rs10781533 are predicted to play a regulatory role and are defined as cis -eQTLs after functional annotation (online suppl.…”

Section: Discussionmentioning

confidence: 99%

Polymorphisms of <i>CARD9</i> Gene Predict Disease Progression and Renal Survival of Immunoglobulin A Nephropathy

He¹,

Shi²,

Guo³

et al. 2023

Kidney Blood Press Res

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Introduction: A previous genome-wide association study has identified CARD9 (caspase recruitment domain family member 9) as a susceptibility gene for Immunoglobulin A nephropathy (IgAN), which encodes an adapter protein and is related to mucosal immunity. This study aims to investigate the association of CARD9 variants with the clinicopathological phenotypes and prognosis of IgAN. Methods: Eight SNPs within CARD9 were genotyped using Sequenom MassARRAY iPLEX for 986 IgAN patients in this study. Logistic and linear regression analyses adjusted for age and gender were performed to evaluate the effects of CARD9 gene polymorphisms on clinicopathological phenotypes. The Kaplan‒Meier method and Cox proportional hazard models were applied to analyse the associations between genetic variants and renal survival. Results: The T allele of rs10747047 was strongly associated with high levels of serum creatinine (P = 0.005) and the lower levels of estimated glomerular filtration rate (P = 0.005). The rs10870149-G and rs10870077-C allele were associated with elevated 24-h urine protein excretion (P = 0.041 and 0.022, respectively) and more serious segmental glomerulosclerosis lesions (P = 0.005 and 0.041, respectively) in IgAN patients. Carriers with the T allele of rs10781533 and the C allele of rs3812552 also presented with severe segmental glomerulosclerosis lesions (P = 0.001 and 0.010, respectively). Additionally, rs10747047-C and rs10870077-C alleles were independently related to the poor prognosis of IgAN patients after adjustments for covariates (TT vs. CC HR = 0.138, 95% CI = 0.022-0.871, P = 0.035; GG vs. CC HR = 0.321, 95% CI = 0.123, 0.836, P = 0.020, respectively). Conclusion: CARD9 variants are associated with disease severity and rapid disease progression for IgAN in a Chinese Han population.

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Genetics of Uveitis

Cunningham

Pichi

Mahajan

et al. 2021

Ocular Immunology and Inflammation

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

Cited by 5 publications

References 50 publications

Genetic association of PRKCD and CARD9 polymorphisms with Vogt–Koyanagi–Harada disease in the Chinese Han population

Genetic association of PRKCD and CARD9 polymorphisms with Vogt–Koyanagi–Harada disease in the Chinese Han population

Polymorphisms of <i>CARD9</i> Gene Predict Disease Progression and Renal Survival of Immunoglobulin A Nephropathy

Genetics of Uveitis

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