One SNP at a Time: Moving beyond GWAS in Psoriasis

Ray-Jones, Helen; Eyre, Steve; Barton, Anne

doi:10.1016/j.jid.2015.11.025

Cited by 58 publications

(61 citation statements)

References 91 publications

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“…SNP was a classical topic of research which indicated a variation in a single nucleotide that occurs at a specific position in the genome [15]. And with the development of research, especially the studies on miRNA, the SNPs in the 3′UTR region which were targets of miRNA have been shown in many studies to affect the binding of miRNA to cause "Gain" and "Loss" regulation of certain miRNAs [16,17].…”

Section: Discussionmentioning

confidence: 99%

Rs56288038 (C/G) in 3'UTR of IRF-1 Regulated by MiR-502-5p Promotes Gastric Cancer Development

Wang

Yang

Shen

et al. 2016

Cell Physiol Biochem

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Background/Aims: Interferon regulatory factor 1 (IRF-1) has been shown to function as a transcriptional activator or repressor of a variety of target genes. However, its upstream, non-coding RNA-related regulatory capacity remains unknown. In this study, we focus on the miRNA-associated single nucleotide polymorphisms (SNPs) in the 3′untranslated region (UTR) of IRF-1 to further investigate the functional relationship and potential diagnostic value of the SNPs and miRNAs among Chinese gastric cancer (GC) patients. Methods: We performed a case-control study with 819 GC patients and 756 cancer-free controls. Genotyping by realtime PCR assay, cell transfection, and the dual luciferase reporter assay were used in our study, and the 5-year overall survival rate and relapse-free survival rate in different groups were investigated. Results: We found that patients suffering from Helicobacter pylori (Hp) infection were the susceptible population compared to controls. SNP rs56288038 (C/G) in IRF-1 3′UTR was involved in the occurrence of GC by acting as a tumor promoter factor. SNP rs56288038 (C/G) could be up-regulated by miR-502-5p, which caused a down-regulation of IRF-1 in cell lines and decreased apoptosis induced by IFN-γ. Carrying the G genotype was related to significantly low expression of IRF-1 and Hp infection, poor differentiation, big tumor size, invasion depth, as well as the high probability of metastasis, and moreover, the C/G SNP was associated with shorter survival of GC patients with five years of follow-up study. Conclusions: our findings have shown that the SNP rs56288038 (C/G) in IRF-1 3′UTR acted as a promotion factor in GC development through enhancing the regulatory role of miR-502-5p in IRF-1 expression.

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Section: Discussionmentioning

confidence: 99%

Rs56288038 (C/G) in 3'UTR of IRF-1 Regulated by MiR-502-5p Promotes Gastric Cancer Development

Wang

Yang

Shen

et al. 2016

Cell Physiol Biochem

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“…GWAS have identified 40 loci in patients with psoriasis, many of which are related to immune function, including the endoplasmic reticulum aminopeptidase 1 (ERAP1), whose product is relevant to peptides binding to the MHC class I molecules, especially HLA-C*0602 and HLA-B*27 46 . SNPs related to genes relevant to immune function include loci containing genes involved in nuclear factor kappa-light-chain-enhancer of activated B cells (NF-kB) signaling ( REL , TNF α-induced protein 3-interacting protein 1 [ TNIP1 ], NF-kB inhibitor alpha [ NFKBIA ], and caspase recruitment domain family member 14 [ CARD14 ]), interferon (IFN) signaling (interleukin 28 receptor A [ IL-28RA ] and tyrosine kinase 2 [ TYK2 ]), T-cell regulation (Runt-related transcription factor 3 [ RUNX3 ], interleukin 13 [ IL-13 ], T-cell activation RhoGTPase activating protein [ TAGAP ], ever shorter telomeres protein 1 [ ETS1 ], and methyl-CpG binding domain protein 2 [ MBD2 ]), antiviral signaling (IFN-induced helicase C1 protein [‎ IFIH1 ], DEXD/H-box helicase 58 [ DDX58 ], and ring finger protein 114 [ RNF114 ]), and genes involved in the IL-23 pathway which specifically implicate a role for Th17 cells ( TNFAIP3 , IL-23R , IL-12B , TNF receptor associated factor 3 interacting protein 2 [ TRAF3IP2 ], IL-23A , and signal transducer and activator of transcription 3 [ STAT3 ]).…”

Section: What Have We Learnt About the Pathogenesis Of Psoriatic Arthmentioning

confidence: 99%

Recent advances in understanding and managing psoriatic arthritis

Gladman

2016

F1000Res

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This article reviews recent advances in psoriatic arthritis (PsA) over the past several years with emphasis on early diagnosis, better understanding of pathogenesis, and new therapeutic approaches. Early diagnosis is important, since people who present late do not fare as well. There are a number of clinical, laboratory, and ultrasound features that can help identify patients destined to develop PsA, and several screening tools have been developed. It is recognized that genetic and epigenetic factors, as well as T cells and cytokines, play a role in the pathogenesis of PsA, and several targets have been identified for therapeutic interventions. New therapies have been developed and tested in PsA and have been found to be highly effective for both skin and joint manifestations of the disease. The expectation is that, in the future, PsA patients will be treated early and more aggressively and that there will not be significant progression of joint damage. Moreover, with effective treatment of the skin and joint disease and management of risk factors for the comorbidities, we can expect to reduce their occurrence and further reduce the excess mortality and reduced quality of life and function in these patients.

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“…Genetic markers are variants in the human genome that are (alone or in combination) associated with a specific disease phenotype . A variation may have functional consequences, such as altering the expression or function of a gene that directly leads to disease, or may have no direct functional result at all . Genetic markers would be useful as diagnostic tools to identify high‐risk patients or predictors of prognosis or response to therapy.…”

Section: Introductionmentioning

confidence: 99%

“…Single nucleotide polymorphisms (SNPs, or variants at a single DNA base pair) have received much attention as potential genetic markers. SNPs have the advantage of being present at a high frequency in the human genome and can be genotyped easily and inexpensively using standard techniques …”

Section: Introductionmentioning

confidence: 99%

Disease severity in respiratory syncytial virus infection: Role of host genetic variation

Tahamtan

Askari

Bont

et al. 2019

Reviews in Medical Virology

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Summary Respiratory syncytial virus (RSV) infection is the most common cause of bronchiolitis and pneumonia in the pediatric population worldwide. The immunopathology of RSV infection varies considerably and severe disease occurs only in a minority of the population. There are many factors (host, viral, and environmental) that contribute to the complicated disease phenotype. In this regard, host factors are decisive for pulmonary susceptibility to RSV infection. Host genetic diversity certainly affects the balance between control of viral replication and tissue damage during RSV infection, consequently impacting on diseases outcome. In this review, we discuss the role of host genetic variation in disease caused by RSV aiming to highlight genetic risk factors for one of the most common diseases in early childhood. Our findings clearly indicate that the response of each individual to infection is influenced by genetic diversity mainly linked to the regulation of host immune responses. Future genetic association and functional studies using more powerful and consistently reproducible approaches will likely be able to confirm, refine, and expand our developing concept of RSV disease pathogenesis.

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One SNP at a Time: Moving beyond GWAS in Psoriasis

Cited by 58 publications

References 91 publications

Rs56288038 (C/G) in 3'UTR of IRF-1 Regulated by MiR-502-5p Promotes Gastric Cancer Development

Rs56288038 (C/G) in 3'UTR of IRF-1 Regulated by MiR-502-5p Promotes Gastric Cancer Development

Recent advances in understanding and managing psoriatic arthritis

Disease severity in respiratory syncytial virus infection: Role of host genetic variation

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