<i>JAK2</i>and<i>STAT3</i>Polymorphisms in a Han Chinese Population with Behçet's Disease

Hu, Ke; Hou, Shengping; Jiang, Zhengxuan; Kijlstra, Aize; Yang, Peizeng

doi:10.1167/iovs.11-8440

Cited by 44 publications

(31 citation statements)

References 30 publications

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“…In the recent years, we have reported on the association of various immune response related genes and susceptibility to BD, including signal transducer and activator of transcription (STAT)-4, STAT3, Janus kinase 2, and CD40. [36][37][38][39] An association between the TLR2 SNPs rs3804099 and rs2289318 as we observed in ocular BD was recently also reported in a French cohort of asthma patients. Though the significance of the rs2289318 SNP lost significance after adjusting for multiple comparisons, 23 the association of rs3804099/TLR2 with asthma remained.…”

Section: Discussionsupporting

confidence: 85%

Association ofTLR2Gene Polymorphisms With Ocular Behçet's Disease in a Chinese Han Population

Fang

Hou

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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Section: Discussionsupporting

confidence: 85%

Association ofTLR2Gene Polymorphisms With Ocular Behçet's Disease in a Chinese Han Population

Fang

Hou

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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“…We previously reported that JAK2 was not associated with Behçet's diseases, whereas variants in STAT3 were associated with Behçet's disease. 27 The reasons for these discrepancies are not clear but may be due to the different nature of these two uveitis entities. Behçet's disease is currently considered an autoinflammatory disease, whereas VKH syndrome is seen as an autoimmune disease.…”

Section: Discussionmentioning

confidence: 99%

JAK1, but NotJAK2andSTAT3, Confers Susceptibility to Vogt–Koyanagi–Harada (VKH) Syndrome in a Han Chinese Population

Hou

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. Janus kinase 1 (JAK1), JAK2, and signal transducer and activator of transcription 3 (STAT3) play an important role in Th1 and Th17 differentiation and gene polymorphisms of these factors have been demonstrated to be associated with certain autoimmune diseases. The present study was performed to assess the association between JAK1, JAK2, and STAT3 polymorphisms and Vogt-Koyanagi-Harada (VKH) syndrome in a Han Chinese population. METHODS.A case-control study was performed in 737 Chinese VKH syndrome patients and 809 healthy controls from a Han Chinese population. The genotypes of three singlenucleotide polymorphisms (SNPs) (rs310230, rs310236, rs310241) in JAK1 were performed using an SNP genotyping system. Three SNPs (rs10758669, rs7857730, rs10119004) in JAK2 and four SNPs (rs6503695, rs744166, rs2293152, and rs12948909) in STAT3 were analyzed using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP). Hardy-Weinberg equilibrium (HWE) was tested using the v 2 test. Genotype frequencies were estimated through direct counting. Allele and genotype frequencies were compared between patients and controls using the v 2 test.RESULTS. There was no deviation from the HWE in all controls tested. Three SNPs, including rs310230, rs310236, and rs310241, in JAK1 were significantly associated with VKH syndrome (Pc ¼ 0.008, 0.005, 0.001, respectively). None of the tested SNPs of JAK2 and STAT3 was associated with VKH syndrome. Stratification analysis according to headache, dysacusis, alopecia, poliosis, and vitiligo for VKH syndrome did not reveal an association.CONCLUSIONS. These results suggest that JAK1 genetic polymorphisms, but not JAK2 and STAT3, are associated with the susceptibility to VKH syndrome.

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“…Gene variants of STAT3, which is also involved in Th17 cell function, have been shown as a risk factor for BD. 47 Additionally, the JAK1 and MCP-1 genes were also shown to be associated with BD in a Chinese Han population. 36,47,95 Other genes involved in Th17 pathways such as IL-6 and IL-1β also showed an association with BD.…”

Section: Genetic Advances On the Genes Involved In Th17 Cell Pathwaysmentioning

confidence: 99%

“…47 Additionally, the JAK1 and MCP-1 genes were also shown to be associated with BD in a Chinese Han population. 36,47,95 Other genes involved in Th17 pathways such as IL-6 and IL-1β also showed an association with BD. 27,29 These studies suggest that genetic variants of cytokines associated with Th17 pathways may play an important role in the development of BD and VKH syndrome.…”

Section: Genetic Advances On the Genes Involved In Th17 Cell Pathwaysmentioning

confidence: 99%

Molecular Genetic Advances in Uveitis

Hou¹,

Kijlstra²,

Yang³

2015

Progress in Molecular Biology and Translational Science

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JAK2andSTAT3Polymorphisms in a Han Chinese Population with Behçet's Disease

Abstract: These results suggest that a STAT3 genetic polymorphism is associated with the susceptibility to BD.

Cited by 44 publications

References 30 publications

Association ofTLR2Gene Polymorphisms With Ocular Behçet's Disease in a Chinese Han Population

Association ofTLR2Gene Polymorphisms With Ocular Behçet's Disease in a Chinese Han Population

JAK1, but NotJAK2andSTAT3, Confers Susceptibility to Vogt–Koyanagi–Harada (VKH) Syndrome in a Han Chinese Population

Molecular Genetic Advances in Uveitis

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