Genetic variations within the PSORS1 region affect Kawasaki disease development and coronary artery aneurysm formation

Lin, Wei Yong; Liu, Hsin Ping; Chang, Jen‐Ping; Lin, Ying; Wan, Lei; Chen, Shih Yin; Huang, Yu Chuen; Lai, Chih Ho; Chen, Chih Mei; Hsiao, Yi Ting; Sheu, Jim Jinn‐Chyuan; Tsai, Fuu Jen

doi:10.1016/j.biomed.2013.03.001

Cited by 28 publications

(21 citation statements)

References 35 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…DNA fragments containing the SNP sites were amplified by PCR using the Taqman SNP genotyping assay system (Applied Biosystems Inc. Carlsbad, CA, USA) as previously described [64]. Probe IDs for the seven selected SNPs are listed in Supplementary Table S1.…”

Section: Methodsmentioning

confidence: 99%

Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression

et al. 2016

Self Cite

View full text Add to dashboard Cite

Aberrant miRNA expression has been reported in endometriosis and miRNA gene polymorphisms have been linked to cancer. Because certain ovarian cancers arise from endometriosis, we genotyped seven cancer-related miRNA single nucleotide polymorphisms (MiRSNPs) to investigate their possible roles in endometriosis. Genetic variants in MIR196A2 (rs11614913) and MIR100 (rs1834306) were found to be associated with endometriosis development and related clinical phenotypes, such as infertility and pain. Downstream analysis of the MIR196A2 risk allele revealed upregulation of rRNA editing and protein synthesis genes, suggesting hyper-activation of ribosome biogenesis as a driving force for endometriosis progression. Clinical studies confirmed higher levels of small nucleolar RNAs and ribosomal proteins in atypical endometriosis lesions, and this was more pronounced in the associated ovarian clear cell carcinomas. Treating ovarian clear cells with CX5461, an RNA polymerase I inhibitor, suppressed cell growth and mobility followed by cell cycle arrest at G2/M stage and apoptosis. Our study thus uncovered a novel tumorigenesis pathway triggered by the cancer-related MIR196A2 risk allele during endometriosis development and progression. We suggest that anti-RNA polymerase I therapy may be efficacious for treating endometriosis and associated malignancies.

show abstract

Section: Methodsmentioning

confidence: 99%

Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression

et al. 2016

Self Cite

View full text Add to dashboard Cite

show abstract

“…Genetic susceptibility plays a major role in pathogenesis [ 60 ]. Research efforts, including GWASs, have been invested worldwide to identify susceptibility genes for several diseases.…”

Section: Discussionmentioning

confidence: 99%

Genetic susceptibility to idiopathic membranous nephropathy in high-prevalence Area, Taiwan

Chen¹,

Chen²,

Huang³

et al. 2014

BioMed

Self Cite

View full text Add to dashboard Cite

Idiopathic membranous nephropathy (MN) is one common cause of idiopathic nephrotic syndrome in adults; 25% of MN patients proceed to end-stage renal disease. In adults, membranous nephropathy is a lead cause of nephrotic syndrome, with about 75% of the cases idiopathic. Secondary causes include autoimmune disease, infection, drugs and malignancy. Three hypotheses about pathogenesis have surfaced: preformed immune complex, in situ immune complex formation, and auto-antibody against podocyte membrane antigen. Pathogenesis does involve immune complex formation with later deposition in sub-epithelial sites, but definite mechanism is still unknown. Several genes were recently proven associated with primary membranous nephropathy in Taiwan: IL-6, NPHS1, TLR-4, TLR-9, STAT4, and MYH9 . These may provide a useful tool for diagnosis and prognosis. This article reviews epidemiology and lends new information on KIRREL2 (rs443186 and rs447707) polymorphisms as underlying causes of MN; polymorphisms revealed by this study warrant further investigation.

show abstract

“…The confidence interval of LD was estimated using a resampling procedure and was used to construct haplotype blocks [43,44]. …”

Section: Methodsmentioning

confidence: 99%

Sorting nexin 24 genetic variation associates with coronary artery aneurysm severity in Kawasaki disease patients

et al. 2013

Self Cite

View full text Add to dashboard Cite

BackgroundThe sorting nexin (SNX) family is involved in endocytosis and protein trafficking and plays multiple roles in various diseases. The role of SNX proteins in Kawasaki disease (KD) is not known. We attempted to test whether genetic SNX variation associates with the risk of coronary artery aneurysm (CAA) formation in KD.Methods and resultsChi-square tests were used to identify SNX24 genetic variants associated with KD susceptibility and CAA formation in KD; models were adjusted for fever duration and time of first administration of intravenous immunoglobulin. We obtained clinical characteristics and genotypes from KD patients (76 with CAA and 186 without CAA) in a population-based retrospective KD cohort study (n = 262). Clinical and genetic factors were associated with CAA formation in KD. In addition, endothelial cell inflammation was evaluated. Significant correlation was observed between KD with CAA complications and the rs28891 single-nucleotide polymorphism in SNX24. Patients with CC + CT genotypes had lesser CAA complications. In lipopolysaccharide-treated human umbilical vein endothelial cells, siRNA knockdown of SNX24 significantly decreased gene expression of the proinflammatory cytokines IL-1 beta, IL-6, and IL-8.ConclusionsPolymorphisms in SNX24 may be used as genetic markers for the diagnosis and prognosis of CAA formation in KD.

show abstract

Genetic variations within the PSORS1 region affect Kawasaki disease development and coronary artery aneurysm formation

Cited by 28 publications

References 35 publications

Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression

Up-regulation of ribosome biogenesis by MIR196A2 genetic variation promotes endometriosis development and progression

Genetic susceptibility to idiopathic membranous nephropathy in high-prevalence Area, Taiwan

Sorting nexin 24 genetic variation associates with coronary artery aneurysm severity in Kawasaki disease patients

Contact Info

Product

Resources

About