The Association of Chemokine Gene Polymorphisms with VKH and Behcet’s Disease in a Chinese Han Population

Huang, Yang; Yu, Hongsong; Cao, Qingfeng; Deng, Jing; Huang, Xinyue; Kijlstra, Aize; Yang, Peizeng

doi:10.1155/2017/1274960

Cited by 12 publications

(7 citation statements)

References 38 publications

(51 reference statements)

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“…Genotype identifications of the 39 SNPs were conducted with the iPLEX Gold genotyping assay and Sequenom MassARRAY (Sequenom, CA, USA). Sequenom SNP Assay Design software (version 3.0) was used to design the primers of iPLEX reactions [27]. Primer sequences used were shown in Additional file 1: Table S1.…”

Section: Methodsmentioning

confidence: 99%

“…Fisher’s exact test was applied to evaluate the differences in allele and genotype frequencies of all SNPs between patients and healthy controls by using SPSS (version 19.0; SPSS Inc., Chicago, IL). The Bonferroni method was conducted to perform correction for multiple comparisons whereby the P value was multiplied with the number of comparisons ( P corrected ( Pc )) [27]. It was considered to be significant when Pc was less than 0.05.…”

Section: Methodsmentioning

confidence: 99%

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Analysis of genetic polymorphisms for age-related macular degeneration (AMD) in Chinese Tujia ethnic minority group

Liu

Zhang

et al. 2019

BMC Med Genet

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BackgroundAge-related macular degeneration (AMD) can cause vision loss or blindness in elderly. The associations between single nucleotide polymorphism (SNP) and AMD in Chinese Tujia ethnic minority group are still unclear.MethodsA total of 2122 Tujia volunteers were recruited and 197 of them were diagnosed with AMD (either dry or wet type).Then the blood specimens of these 197 AMD patients and 404 controls from the remaining 1925 normal Tujia volunteers were collected to detect the frequencies of 39 chosen SNPs. The Bonferroni method was used to correct the P values from the Fisher’s exact test.ResultsThe mean age of the 197 AMD patients(113 males and 84 females) was 68.4197 years old. No significant differences in allelic and genotypic frequencies were found for all the 39 SNPs between the patients and controls. However, weak correlations between 10 SNPs (CFH rs1329428 TT genotype, CFH rs3753394 CC genotype and T allele, CFH rs1410996 AA genotype, CFH rs800292 AA genotype, CFH rs800292 A allele, VEGF rs833061 TT genotype and C allele, VEGF rs2010963 CG genotype, VEGFR2 rs1531289 TT genotype, ARMS2 rs10490924 TT genotype, KCTD10 rs238104 GC genotype, rs1531289 T allele and ARMS2 rs10490924 T allele) and AMD were shown.ConclusionsThe effects of 39 SNPs have found no associations with the morbidity of AMD in Chinese Tujia ethnic minority group.Electronic supplementary materialThe online version of this article (10.1186/s12881-019-0756-4) contains supplementary material, which is available to authorized users.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Analysis of genetic polymorphisms for age-related macular degeneration (AMD) in Chinese Tujia ethnic minority group

Liu

Zhang

et al. 2019

BMC Med Genet

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“…Like vitiligo, VKH appears to be driven by type 1 T cell responses (46,47), though eye involvement reveals Th17 signatures (48). CX3CL1 was upregulated specifically in VKH skin in our case studies.…”

Section: Discussionmentioning

confidence: 53%

Case Series: Gene Expression Analysis in Canine Vogt-Koyanagi-Harada/Uveodermatologic Syndrome and Vitiligo Reveals Conserved Immunopathogenesis Pathways Between Dog and Human Autoimmune Pigmentary Disorders

et al. 2020

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Vogt-Koyanagi-Harada syndrome (VKH) and vitiligo are autoimmune diseases that target melanocytes. VKH affects several organs such as the skin, hair follicle, eyes, ears, and meninges, whereas vitiligo is often limited to the skin and mucosa. Many studies have identified immune genes, pathways and cells that drive the pathogeneses of VKH and vitiligo, including interleukins, chemokines, cytotoxic T-cells, and other leukocytes. Here, we present case studies of 2 canines with VKH and 1 with vitiligo, which occurred spontaneously in client-owned companion dogs. We performed comparative transcriptomics and immunohistochemistry studies on lesional skin biopsies from these cases in order to determine if the immunopathogenesis of autoimmune responses against melanocytes are conserved. In dogs, we found enrichment of T cell gene signatures, with upregulation of IFNG, TNF, PRF1, IL15, CTSW, CXCL10, and CCL5 in both VKH and vitiligo in dogs compared to healthy controls. Similar findings were reported in humans, suggesting that these genes play a role in the pathogenesis of spontaneous VKH and vitiligo. T cell-associated genes, including FOXP3 and TBX21, were enriched, while IGFBP5, FOXO1, and PECAM1 were decreased compared to healthy controls. Further, we identified TGFB3, SFRP2, and CXCL7 as additional potential drivers of autoimmune pigmentary disorders. Future studies exploring the immunopathogenesis of spontaneous autoimmunity will expand our understanding of these disorders, and will be useful in developing targeted therapies, repurposing drugs for veterinary and human medicine, and predicting disease prognosis and treatment response.

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“…In general, BD-associated gene polymorphisms were localized in molecules responding to microorganisms, as well as in genes encoding cytokines and adhesion molecules. Polymorphisms within genes encoding the cytokines may affect their function and may be associated with disease predisposition (44). Researchers identified several non-HLA genetic associations by GWAS including ERAP1, IL23 receptor (IL23R), IL-23R/IL-12RB2, IL-10 , and STAT genes (38, 45).…”

Section: Geneticsmentioning

confidence: 99%

Behçet’s Disease: An Overview of Etiopathogenesis

2019

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Behçet's disease (BD) is a systemic inflammatory disease with a chronic, relapsing-remitting course of unknown etiology hallmarked predominantly by mucocutaneous lesions and ocular involvement. BD shares some common features with autoimmune and autoinflammatory diseases and spondyloarthropathies (MHC-I-opathies). It is related to more than one pathogenic pathway triggered by environmental factors such as infectious agents in genetically predisposed subjects. The interplay between genetic background and immune system is linked to the BD presentation. Genetic factors have been investigated extensively, and several recent genome-wide association studies have confirmed HLA-B * 51 to be the strongest genetic susceptibility factor. However, new non-HLA susceptibility genes have been identified. Genetic variations in the genes encoding the cytokines could affect their function and be associated with disease susceptibility. Infectious agents such as Streptococcus sanguinis or the differences in salivary or gut microbiome composition can be considered to trigger the innate-derived inflammation, which is, subsequently, sustained by adaptive immune responses. Altered trimming of microbial and/or endogenous peptides by endoplasmic reticulum aminopeptidase 1 (ERAP1), presented by HLA-B * 51 , may play a key role in BD pathogenesis causing an alteration in T cell balance with downregulation of Tregs and expansion of Th1 and Th17. The activity of neutrophils is increased and there is an intense neutrophil infiltration in the early stage of inflammation in organs affected by the disease. Association with HLA-B * 51 and increased IL-17 response seems to have an important role in neutrophil activity. In this paper, we provide an overview of the most recent advances on BD etiopathogenesis.

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The Association of Chemokine Gene Polymorphisms with VKH and Behcet’s Disease in a Chinese Han Population

Cited by 12 publications

References 38 publications

Analysis of genetic polymorphisms for age-related macular degeneration (AMD) in Chinese Tujia ethnic minority group

Analysis of genetic polymorphisms for age-related macular degeneration (AMD) in Chinese Tujia ethnic minority group

Case Series: Gene Expression Analysis in Canine Vogt-Koyanagi-Harada/Uveodermatologic Syndrome and Vitiligo Reveals Conserved Immunopathogenesis Pathways Between Dog and Human Autoimmune Pigmentary Disorders

Behçet’s Disease: An Overview of Etiopathogenesis

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