The genetic polymorphisms of POU5F1 gene are associated with psoriasis vulgaris in Chinese

Chang, Yun Ting; Hsu, Christine D.; Chou, Chan Te; Lin, Ming; Shiao, Y.M.; Tsai, Chang Youh; Yu, Chia Wen; Shiue, Jen Jen; Lee, Yu Fen; Huang, Cheng Hung; Chen, Chih Chiang; Lee, Ding Dar; Wang, Wen Jen; Liu, Han Nan; Tsai, Shih Feng

doi:10.1016/j.jdermsci.2007.01.003

Cited by 13 publications

(7 citation statements)

References 9 publications

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“…POU5F1 is likely to play a role in epithelial tumors such as skin and salivary glands [39], [40]. Previous studies have shown that a genetic polymorphism of POU5F1 is associated with psoriasis in Chinese population [41]. A stronger association than HLA-C *0602, in particular in HLA-C *0602 negative individuals, is observed with psoriasis in Spanish population [42].…”

Section: Discussionmentioning

confidence: 99%

Psoriasis Regression Analysis of MHC Loci Identifies Shared Genetic Variants with Vitiligo

Zhu

Xian

et al. 2011

PLoS ONE

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Psoriasis is a common inflammatory skin disease with genetic components of both immune system and the epidermis. PSOR1 locus (6q21) has been strongly associated with psoriasis; however, it is difficult to identify additional independent association due to strong linkage disequilibrium in the MHC region. We performed stepwise regression analyses of more than 3,000 SNPs in the MHC region genotyped using Human 610-Quad (Illumina) in 1,139 cases with psoriasis and 1,132 controls of Han Chinese population to search for additional independent association. With four regression models obtained, two SNPs rs9468925 in HLA-C/HLA-B and rs2858881 in HLA-DQA2 were repeatedly selected in all models, suggesting that multiple loci outside PSOR1 locus were associated with psoriasis. More importantly we find that rs9468925 in HLA-C/HLA-B is associated with both psoriasis and vitiligo, providing first important evidence that two major skin diseases share a common genetic locus in the MHC, and a basis for elucidating the molecular mechanism of skin disorders.

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Section: Discussionmentioning

confidence: 99%

Psoriasis Regression Analysis of MHC Loci Identifies Shared Genetic Variants with Vitiligo

Zhu

Xian

et al. 2011

PLoS ONE

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“…27 Possible psoriasis candidate genes near HLA-B include PSORS1C1, [17][18][19] CCHCR1, 22,23 and POU5F1. 32,33 Mutations in BAT1 may be associated with rheumatoid arthritis. [34][35][36] HCP5 encodes an endogenous retroviral element mainly that is expressed in immune cells and there is evidence that the SNP in this gene is protective against human immunodeficiency virus-1 infection.…”

Section: Discussionmentioning

confidence: 99%

A whole-genome association study of major determinants for allopurinol-related Stevens–Johnson syndrome and toxic epidermal necrolysis in Japanese patients

et al. 2011

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Stevens-Johnson syndrome and toxic epidermal necrolysis (SJS/TEN) are severe, cutaneous adverse drug reactions that are rare but life threatening. Genetic biomarkers for allopurinol-related SJS/TEN in Japanese were examined in a genome-wide association study in which Japanese patients (n=14) were compared with ethnically matched healthy controls (n=991). Associations between 890 321 single nucleotide polymorphisms and allopurinol-related SJS/TEN were analyzed by the Fisher's exact test (dominant genotype mode). A total of 21 polymorphisms on chromosome 6 were significantly associated with allopurinol-related SJS/TEN. The strongest association was found at rs2734583 in BAT1, rs3094011 in HCP5 and GA005234 in MICC (P=2.44 × 10(-8); odds ratio=66.8; 95% confidence interval, 19.8-225.0). rs9263726 in PSORS1C1, also significantly associated with allopurinol-related SJS/TEN, is in absolute linkage disequilibrium with human leukocyte antigen-B*5801, which is in strong association with allopurinol-induced SJS/TEN. The ease of typing rs9263726 makes it a useful biomarker for allopurinol-related SJS/TEN in Japanese.

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“…OCT4, also named POU5F1, is the main regulator of pluripotency in stem cells 1 . It also has a part in tumorigenesis, cellular stress response, and hence is linked to various diseases from cancer to autoimmune disorders 2–4 . OCT4 possesses several isoforms with different functions at both protein and transcript levels, and their expressions are regulated through different mechanisms and at various biological processes 5,6 .…”

Section: Introductionmentioning

confidence: 99%

lncRNA PSORS1C3 is regulated by glucocorticoids and fine-tunes OCT4 expression in non-pluripotent cells

Azad

Malakootian

Mowla

2019

Sci Rep

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OCT4 is a transcription factor known for its regulatory roles in stemness, tumorigenesis and stress response. Considering its versatile functions, expression of OCT4 is regulated at different levels. PSORS1C3, a long non-coding RNA overlapped with OCT4, has a putative association with immune mediated diseases; however, its exact functions remained to be elucidated. Here, we demonstrated that PSORS1C3 is regulated by glucocorticoids (GC), has two endogenously active promoters, promoter 0 and 1, and two sets of transcripts, short and long variants. According to our findings, PSORS1C3 promoters behaved differently during neural differentiation of NT2 cells and glucocorticoid receptor (GR) activation. In both processes the expression pattern of short variants differed from that of long variants and was similar to OCT4 expression. Furthermore, our data revealed that PSORS1C3’s promoter 0 could act as an enhancer for OCT4 in non-pluripotent cells, where its deletion caused a significant decrease in OCT4 expression. Meanwhile, during GR activation promoter 0 functioned as a negative regulator and alleviated transcription induction of OCT4 after GC treatment. Altogether, our work clarified the structure and regulation of PSORS1C3, explained its relation to immune-related disease through GR signaling and introduced it as a novel fine-tuner of OCT4 expression in non-pluripotent cells.

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The genetic polymorphisms of POU5F1 gene are associated with psoriasis vulgaris in Chinese

Cited by 13 publications

References 9 publications

Psoriasis Regression Analysis of MHC Loci Identifies Shared Genetic Variants with Vitiligo

Psoriasis Regression Analysis of MHC Loci Identifies Shared Genetic Variants with Vitiligo

A whole-genome association study of major determinants for allopurinol-related Stevens–Johnson syndrome and toxic epidermal necrolysis in Japanese patients

lncRNA PSORS1C3 is regulated by glucocorticoids and fine-tunes OCT4 expression in non-pluripotent cells

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