Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese

Zhang, Y.; Yang, Wu; Mok, Chi Chiu; Chan, Tak Mao; Wong, Raymond Woon Sing; Mok, Mo Yin; Lee, K. W.; Wong, Sik Nin; Leung, Alexander Moon Ho; Lee, T. L.; Ho, Marco H. K.; Wong, W. H S; Yang, Jing; Zhang, J.; Wong, Chun-Kwok; Ng, Irene Oi Lin; García-Barceló, María-Mercé; Cherny, Stacey S.; Tam, Paul Kwong‐Hang; Sham, Pak-Chung; Lau, Chak Sing; Lau, Yu Lung

doi:10.1038/gene.2010.66

Cited by 25 publications

(16 citation statements)

References 15 publications

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“…Ten of the 18 known SLE susceptibility loci showed evidence of multiple independent effects (adjusted P [P adj ] , 0.05 and unadjusted P [P unadj ] , 0.001) ( Table 1). The independent effects within all of these loci except CLEC16A have already been confirmed via direct or indirect (i.e., surrogate variants having high LD with them [r 2 .0.8]) tagging of at least 1 independent contributor in previous replication studies (4,6,12,13,15,27,(38)(39)(40)(41). Therefore, the results of gene-based analysis were proven to be consistent with what has been reported in the literature.…”

Section: Resultssupporting

confidence: 84%

Gene‐Based Meta‐Analysis of Genome‐Wide Association Study Data Identifies Independent Single‐Nucleotide Polymorphisms in ANXA6 as Being Associated With Systemic Lupus Erythematosus in Asian Populations

Zhang

Yang

et al. 2015

Arthritis & Rheumatology

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Objective. Previous genome-wide association studies (GWAS), which were mainly based on single-variant analysis, have identified many systemic lupus erythematosus (SLE) susceptibility loci. However, the genetic architecture of this complex disease is far from being understood. The aim of this study was to investigate whether using a gene-based analysis may help to identify novel loci, by considering global evidence of association from a gene or a genomic region rather than focusing on evidence for individual variants.Methods. Based on the results of a meta-analysis of 2 GWAS of SLE conducted in 2 Asian cohorts, we

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Section: Resultssupporting

confidence: 84%

Gene‐Based Meta‐Analysis of Genome‐Wide Association Study Data Identifies Independent Single‐Nucleotide Polymorphisms in ANXA6 as Being Associated With Systemic Lupus Erythematosus in Asian Populations

Zhang

Yang

et al. 2015

Arthritis & Rheumatology

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“…A coding variant in this gene was found to be associated with systemic lupus erythematosus. 45 Ugoni and colleagues found that UHRF1BP1 is one of the members of the ICBP90 complex, and that overexpression of UHRF1BP1 might induce inhibition of cell growth like a tumor suppressor. 46 The role of this protein and its prognostic relevance in other tumor types requires further clarification.…”

Section: Discussionmentioning

confidence: 99%

Expression ofSESN1, UHRF1BP1, and miR-377-3p as prognostic markers in mutatedTP53squamous cell carcinoma of the head and neck

Baroudi

Machiels

Schmitz

2017

Cancer Biology & Therapy

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The tumor suppressor gene TP53 is the most frequently mutated gene in human papillomavirus (HPV)-negative head and neck squamous cell carcinoma (HNSCC). It represents a known transcription factor that controls different microRNAs (miRNA) and target genes involved in the regulation of cellular stress, apoptosis and response to DNA damage. We used The Cancer Genome Atlas database to investigate the difference in transcriptome and proteome levels between mutated and wild-type TP53 HPV-negative HNSCC. Using different databases and an extensive literature review, we built the transcriptional and post-transcriptional network regulated by TP53. TP53 mutation was associated with poor overall survival in 203 HPV-negative patients compared to 40 patients with TP53 wild-type tumors. Using the enrichment analysis, we found that UHRF1BP1 and SESN1 mRNA were linked to prognosis in the TP53 mutated group. This is also the case for miR-377-3p, an important miRNA regulator of SESN1. Our study shows that SESN1 mRNA, UHRF1BP11 mRNA and miRNA-377-3p levels are prognostically relevant in HPV-negative HNSCC patients. This finding may help with patient stratification and the development of potential new therapeutic targets to treat patients with HNSCC.

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“…In addition, SLE-associated loci (e.g. TMEM39A , UHRF1BP1 and CLEC16A ) with unknown immune function require further fine mapping and characterization of functional pathways contributing to the development of SLE [24,53,54]. …”

Section: Sle Susceptibility Genes Stratified By Biological Pathwaysmentioning

confidence: 99%

Advances in lupus genetics and epigenetics

Deng

Tsao

2014

Current Opinion in Rheumatology

108

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Purpose of review Genome-wide association studies (GWAS) have identified more than 50 robust loci associated with SLE susceptibility, and follow-up studies help reveal candidate causative genetic variants and their biological relevance contributing to the development of SLE. Epigenetic modulation is emerging as an important mechanism for understanding how the implicated genes interact with environmental factors. We review recent progress towards identifying causative variants of SLE-associated loci and epigenetic impact to lupus, especially genetic-epigenetic interactions that modulate expression levels of SLE susceptibility genes. Recent findings A few SLE-risk loci have been refined to localize likely causative variants responsible for the observed GWAS signals. Few of such variants disrupt coding sequences resulting in gain or loss of function for the encoded protein, while most fall in noncoding regions with potential to regulate gene expression through alterations in transcriptional activity, splicing, mRNA stability and epigenetic modifications. Multiple key pathways related to the SLE pathogenesis have been indicated by the identified genetic risk factors, including type I interferon signaling pathway that can also be regulated by epigenetic changes occurred in SLE. Summary These findings provide novel insights of the disease pathogenesis, and promise better diagnostic accuracy and new therapeutic targets for patient management.

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Two missense variants in UHRF1BP1 are independently associated with systemic lupus erythematosus in Hong Kong Chinese

Cited by 25 publications

References 15 publications

Gene‐Based Meta‐Analysis of Genome‐Wide Association Study Data Identifies Independent Single‐Nucleotide Polymorphisms in ANXA6 as Being Associated With Systemic Lupus Erythematosus in Asian Populations

Gene‐Based Meta‐Analysis of Genome‐Wide Association Study Data Identifies Independent Single‐Nucleotide Polymorphisms in ANXA6 as Being Associated With Systemic Lupus Erythematosus in Asian Populations

Expression ofSESN1, UHRF1BP1, and miR-377-3p as prognostic markers in mutatedTP53squamous cell carcinoma of the head and neck

Advances in lupus genetics and epigenetics

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