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A functional polymorphism in the paired basic amino acid-cleaving enzyme 4 gene confers osteoarthritis risk in a population of Eastern China Genet. Mol. Biol.
He,Jin; Yang,Haoyu; Xu,Zhonghua; Li,Jin; Chen,Gang; Jiang,Lifeng; Wu,Lidong; Zhou,Xindie.
Abstract Paired basic amino acid-cleaving enzyme 4 (PACE4), a proprotein convertase, is involved in the activation of aggrecanases (ADAMTS-4 and ADAMTS-5) in osteoarthritic and cytokine-stimulated cartilage. Activated aggrecanases cause aggrecan degradation and thus, contribute to osteoarthritis (OA). In this study, we investigated the association between PACE4 gene polymorphisms and OA risk. One single-nucleotide polymorphism (rs4965833) in the PACE4 gene was genotyped in 432 OA patients and 523 healthy controls using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Quantitative reverse transcription PCR (qRT-PCR) was used to determine the relative expression of PACE4 in blood samples from 90 OA patients (30 for each...
Tipo: Info:eu-repo/semantics/article Palavras-chave: ACE4; Osteoarthritis; Bioinformatics analysis; Single-nucleotide polymorphism.
Ano: 2020 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000100104
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Genetic variation of aggrecanase-2 (ADAMTS5) in susceptibility to osteoarthritis BJMBR
Zhou,Xindie; Jiang,Lifeng; Zhang,Yi; Zhang,Junjie; Zhou,Dong; Wu,Lidong; Huang,Yong; Xu,Nanwei.
Aggrecanase-2 (ADAMTS5) gene is responsible for aggrecan degradation that may contribute to cartilage destruction in a mouse osteoarthritis (OA) model. We aimed to investigate the effects of ADAMTS5 gene polymorphisms on OA risk in a Chinese population. A total of 300 OA patients and 300 controls were recruited and their genotypes for ADAMTS5 gene rs226794 and rs2830585 polymorphisms were determined using a custom-by-design 48-Plex single nucleotide polymorphism Scan™ kit. ADAMTS5-associated genes were identified by co-expression analysis and their functions were investigated by Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analyses. Bioinformatics analysis showed that ADAMTS5 was significantly related to the components, structural constituent,...
Tipo: Info:eu-repo/semantics/article Palavras-chave: ADAMTS5; Polymorphism; Osteoarthritis; Co-expression analysis.
Ano: 2019 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2019000200602
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The rs878081 polymorphism of AIRE gene increases the risk of rheumatoid arthritis in a Chinese Han population: a case-control study BJMBR
Yang,Haoyu; Li,Jin; Jiang,Lifeng; Jiang,Xijia; Zhou,Xindie; Xu,Nanwei.
The autoimmune regulator (AIRE), a transcriptional regulator expressed in medullary thymic epithelial cells, plays an important role in thymocyte education and negative selection. Several citations studying the association between the rs878081 exon polymorphism of the AIRE gene and the risk of rheumatoid arthritis (RA) in different populations have yielded conflicting findings. Thus, this case-control study involving 300 RA cases and 300 controls was aimed to identify whether such association existed in a Chinese Han population from East China. The rs878081 polymorphism of the AIRE gene was genotyped. Odds ratios (ORs) and 95% confidence intervals (CIs) were estimated using the chi-squared test, genetic model analysis, and stratification analysis. Genetic...
Tipo: Info:eu-repo/semantics/article Palavras-chave: AIRE; Single-nucleotide polymorphism; Rheumatoid arthritis; Case-control study.
Ano: 2018 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2018001200612
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