VitGene Generalized Vitiligo Genetics Study
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ABSTRACT:
PROVIDER: PRJNA75597 | ENA |
REPOSITORIES: ENA
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Project description:<p>Generalized vitiligo is an autoimmune disease in which melanocyte loss results in patchy depigmentation of skin and hair. For this GWAS of generalized vitiligo, 579,146 SNPs were genotyped in 1514 generalized vitiligo cases of European-derived white (CEU) ancestry versus data from 2813 "public" CEU controls. 49 strongly associated SNPs from the first phase of the GWAS were then tested in two replication studies, one comparing 677 independent cases and 1106 CEU controls, and the other a family-based analysis of 204 CEU simplex generalized vitiligo trios and 310 CEU multiplex families. Overall, significant association of generalized vitiligo was detected for SNPs in several genes previously associated with other autoimmune diseases, including MHC class I (P = 9.05 x 10<sup>-23</sup>) and class II (P = 4.50 x 10<sup>-34</sup>) loci, PTPN22 (P = 1.31 x 10<sup>-7</sup>), LPP (P = 1.01 x 10<sup>-11</sup>), IL2RA (P = 2.78 x 10<sup>-9</sup>), UBASH3A (P = 1.26 x 10<sup>-9</sup>), and C1QTNF6 (P = 2.21 x 10<sup>-16</sup>). Association was also detected for SNPs in two novel immune-related loci, RERE (P = 7.07 x 10<sup>-15</sup>), GZMB (P = 3.44 x 10<sup>-8</sup>), and in a locus that may mediate melanocyte target cell specificity, TYR (P = 1.60 x 10<sup>-18</sup>) encoding tyrosinase. These findings thus demonstrate association between generalized vitiligo and multiple genes, some associated with other autoimmune diseases and others that may mediate target-cell specificity, and suggest a possible inverse relationship between susceptibility to vitiligo versus melanoma.</p>
| phs000224.v1.p1 | EGA
Project description:Investigate the gene expression change in the blood of segmental vitiligo, generalized vitiligo and healthy individual.
2016-04-08 | GSE80009 | GEO
Project description: Not available
| S-EPMC3513342 | biostudies-literature
Project description:Vitiligo is an acquired depigmentation of the skin inducing a marked alteration of the quality of life of affected individuals. Halting the disease progression and repigmenting the lesional skin represent the two faces of the therapeutic challenge in vitiligo. So far, none of them has been successfully addressed. Oxidative stress and immune system in genetically predisposed individuals participate to the complex pathophysiology of vitiligo. We performed a transcriptome and proteomic analysis on lesional, perilesional and non-depigmented skin of vitiligo patients compared to matched skin controls of healthy subjects. Our results show that the WNT pathway, implicated in melanocytes differentiation, was found to be altered in vitiligo skin. We demonstrated that the oxidative stress decreases WNT expression/activation in keratinocytes and in melanocytes. We developed an ex vivo skin model that remains functional up to 15 days. We then confirmed the decreased activation of the WNT pathway in human skin subjected to oxidative stress. Finally, using pharmacological agents that activate the WNT pathway, we treated the ex vivo depigmented skins from vitiligo patients and successfully induced the differentiation of resident stem cells into pre-melanocytes supporting further exploration of WNT activators to repigment vitiligo lesions. Total of 40 chips. 10 patients (3 biospies per patient: 1 lesional , 1 perilesional and 1 non lesional) ; 10 healthy volunteers (1biopsy in matched anatomical areas)
2015-10-01 | E-GEOD-65127 | biostudies-arrayexpress
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| PRJNA648439 | ENA
Project description:Brain Arteriovenous Malformation Genetics Study
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Project description:Ischemic Stroke Genetics Study (ISGS)
| PRJNA75377 | ENA
Project description:The aim of this study was to investigate the differential expression of long non-coding RNAs (lncRNAs) in T cells from patients with vitiligo and their roles in the pathogenesis of vitiligo. The expression profiles of the RNA transcripts in T cells from three patients with vitiligo and three controls were conducted using microarray analysis. These aberrantly-expressed genes were further validated using T cells from 41 patients with vitiligo and 28 controls. The biologic function of the specific lncRNAs was investigated using transfection, RNA pull-down assay plus proteomic approach and Western blotting. As the results, the expression levels of 134 genes, were significantly increased, whereas the expression levels 142 genes were significantly decreased in T cells from patients with vitiligo compared with the controls. After selection and validation, the expression levels of 11 genes increased and two genes decreased in T cells from patients with vitiligo. We confirmed that LOC100506314 could interact with the signal transducer and activator of transcription 3 (STAT3) and macrophage migration inhibitory factor (MIF). The transfection of LOC100506314 could suppress STAT3, AKT, and ERK phosphorylation and nuclear protein levels of p65. Finally, overexpressed LOC100506314 decreased the T cell expression of IL-6 and IL-17. In conclusion, among the lncRNAs, we found that the expression levels of LOC100506314 were increased in T cells from patients with vitiligo. LOC100506314 could bind to STAT3 and MIF and suppress the expression of IL-6 and IL-17 through the inhibition of the STAT3, AKT, ERK, and NF-κB pathway. Increased the expression of LOC100506314 in T cells could be a potential therapeutic strategy for vitiligo.
2023-09-27 | GSE205751 | GEO
Project description:Brisbane Systems Genetics Study comprises of a total of 862 individuals from 374 families. Families consist of combinations of both MZ and DZ twin pairs, their siblings and for 72 families their parents.
2013-12-11 | GSE53195 | GEO