☆ 4.7 Editorial Material

A re-evaluation of three putative functional single nucleotide polymorphisms in rheumatoid arthritis

ANNALS OF THE RHEUMATIC DISEASES (2009)

Journal

ANNALS OF THE RHEUMATIC DISEASES

Volume 68, Issue 8, Pages 1373-1375

Publisher

B M J PUBLISHING GROUP

DOI: 10.1136/ard.2008.103572

Keywords

-

Categories

Rheumatology

Funding

Arthritis Research UK [17552] Funding Source: Medline

Ask authors/readers for more resources

Protocol

Community support

Reagent

Community support

Authors

I am an author on this paper

Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.7

Not enough ratings

Secondary Ratings

Novelty

-

Significance

-

Scientific rigor

-

Rate this paper

Recommended

Article Medicine, General & Internal

Single Nucleotide Polymorphisms Associated with Rheumatoid Arthritis in Saudi Patients

Maha Daghestani, Nashwa Othman, Mohammed A. Omair, Fahidah Alenzi, Maha A. Omair, Eman Alqurtas, Shireen Amin, Arjumand Warsy

Summary: This study conducted an investigation on the Saudi population and found that 6 single nucleotide polymorphisms (SNPs) were significantly associated with rheumatoid arthritis (RA), with 4 of them having a protective effect. Two SNPs showed significantly higher heterozygote frequencies in the control group compared to the patients. This indicates considerable heterogeneity in the genetics of RA in different populations.

JOURNAL OF CLINICAL MEDICINE (2023)

Add to Collection

Article Biochemistry & Molecular Biology

Finding the Common Single-Nucleotide Polymorphisms in Three Autoimmune Diseases and Exploring Their Bio-Function by Using a Reporter Assay

Yen-Chang Chu, Kuang-Hui Yu, Wei-Tzu Lin, Wei-Ting Wang, Ding-Ping Chen

Summary: Autoimmune thyroid disease often coexists with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). Eye-specific autoimmune diseases may also be related to systemic autoimmune diseases. This study found a genetic association between Graves' disease (GD) with ocular conditions and RA and SLE, and identified specific genes that are significantly associated with the disease.

BIOMEDICINES (2023)

Add to Collection

Review Biochemistry & Molecular Biology

The Functional Impact of Alternative Splicing and Single Nucleotide Polymorphisms in Rheumatoid Arthritis

R. Kowshik Aravilli, S. Laveen Vikram, V Kohila

Summary: Advancements in genomics and proteomics have facilitated the identification of genes associated with various diseases, including Rheumatoid Arthritis (RA) susceptibility. Over 100 immune regulatory genetic loci have been linked with RA, with aberrant SNPs and alternative splicing mechanisms in these loci inducing RA. These abnormalities are considered as potential therapeutic targets due to their association with multiple diseases.

CURRENT PHARMACEUTICAL BIOTECHNOLOGY (2021)

Add to Collection

Article Pharmacology & Pharmacy

Tristetraprolin Gene Single-Nucleotide Polymorphisms and mRNA Level in Patients With Rheumatoid Arthritis

Xiaoke Yang, Bo Chen, Mingyue Zhang, Shengqian Xu, Zongwen Shuai

Summary: The study explored the association between TTP gene polymorphisms and mRNA levels with RA susceptibility in Chinese populations. The results indicated that the T allele of rs3746083 in the TTP gene increased susceptibility to RA, with a significant difference found under the dominant model. However, the association of rs251864 with RA was not statistically significant. Furthermore, TTP expression levels were significantly reduced in RA patients, supporting its potential involvement in RA pathogenesis.

FRONTIERS IN PHARMACOLOGY (2021)

Add to Collection

Article Immunology

Vitamin D Metabolic Pathway Genes Polymorphisms and Their Methylation Levels in Association With Rheumatoid Arthritis

Tian-Ping Zhang, Hong-Miao Li, Qian Huang, Li Wang, Xiao-Mei Li

Summary: The study revealed that genetic variations in CYP2R1 and CYP27B1 were associated with the genetic background of rheumatoid arthritis (RA), while altered methylation levels of VDR and CYP27B1 were related to the risk of RA.

FRONTIERS IN IMMUNOLOGY (2021)

Add to Collection

Article Biotechnology & Applied Microbiology

Genome-wide identification of RNA modification-related single nucleotide polymorphisms associated with rheumatoid arthritis

Mimi Wang, Jingyun Wu, Shufeng Lei, Xingbo Mo

Summary: This study identified RNAm-SNPs related to rheumatoid arthritis (RA) and suggested that they may affect the expression levels of corresponding genes and proteins.

BMC GENOMICS (2023)

Add to Collection

Article Biochemistry & Molecular Biology

Peptidylarginine Deiminase 2 Gene Polymorphisms in Subjects with Periodontitis Predispose to Rheumatoid Arthritis

Laura Massarenti, Christian Enevold, Dres Damgaard, Peter Riis Hansen, Morten Frisch, Niels Odum, Soren Jacobsen, Claus Henrik Nielsen

Summary: Epidemiological studies have shown an association between periodontitis and rheumatoid arthritis (RA). This study investigated whether this association is influenced by genetic polymorphisms. The study found that carrying specific alleles of certain genes increased the risk of RA in individuals with periodontitis.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

Add to Collection

Article Biochemistry & Molecular Biology

Proinflammatory Cytokines (IL-1,-6,-8,-15,-17,-18,-23, TNF-α) Single Nucleotide Polymorphisms in Rheumatoid Arthritis-A Literature Review

Olga M. Koper-Lenkiewicz, Kinga Sutkowska, Natalia Wawrusiewicz-Kurylonek, Ewa Kowalewska, Joanna Matowicka-Karna

Summary: Studies have shown that the relationship between SNPs in proinflammatory cytokines genes and susceptibility to developing RA is inconclusive and varies among different ethnic populations. These polymorphisms also have an impact on clinicopathological features of RA and patients' response to treatment. Further research on larger cohorts and diverse populations is needed to elucidate the role of these SNPs in RA patients.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2022)

Add to Collection

Article Biotechnology & Applied Microbiology

Assessment of linkage disequilibrium patterns between structural variants and single nucleotide polymorphisms in three commercial chicken populations

Johannes Geibel, Nora Paulina Praefke, Steffen Weigend, Henner Simianer, Christian Reimer

Summary: This study aimed to generate a precise SV callset from whole-genome short-read sequencing (WGS) data for three commercial chicken populations and to evaluate the linkage disequilibrium (LD) patterns between the called SVs and surrounding SNPs. The results indicated that LD between deletions (DELs) and SNPs was similar to LD between SNPs, while LD between other SVs and SNPs was significantly reduced. The main reason for the reduced LD was the presence of local minor allele frequency differences. Genotyping accuracy was lower for duplications (DUP), inversions (INV), and translocation breakpoints (BND) compared to SNPs and deletions (DELs). The presence of tag SNPs was slightly lower for DELs compared to WGS SNPs, but this difference disappeared when considering SNPs located on different chicken genotyping arrays.

BMC GENOMICS (2022)

Add to Collection

Article Biochemistry & Molecular Biology

No association of eight TNFAIP3 single nucleotide variants to rheumatoid arthritis in Mexicans

Ivan Sammir Aranda-Uribe, Julian Ramirez-Bello, Georgina Victoria-Acosta, Felipe Munoz-Gonzalez, Rosa Elda Barbosa-Cobos, Jose Moreno

Summary: The study found that the evaluated TNFAIP3 SNVs are not risk factors for rheumatoid arthritis in Mexican patients.

MOLECULAR BIOLOGY REPORTS (2022)

Add to Collection

Article Medicine, General & Internal

Association between PYTPN22 rs2476601, VEGF rs833070, TNFAIP3 rs6920220 Polymorphisms and Risk for Rheumatoid Arthritis in Early Undifferentiated Arthritis Patients: A Pilot Study

Regina Sakalyte, Sigita Stropuviene, Gabija Jasionyte, Loreta Bagdonaite, Algirdas Venalis

Summary: The study found no significant association between the analyzed SNPs and the risk of progression from UA to RA. However, patients who developed RA had more severe arthritis symptoms at baseline.

MEDICINA-LITHUANIA (2023)

Add to Collection

Article Immunology

Exploration of the association between the single-nucleotide polymorphism of co-stimulatory system and rheumatoid arthritis

Ding-Ping Chen, Ying-Hao Wen, Wei-Tzu Lin, Fang-Ping Hsu, Kuang-Hui Yu

Summary: This study investigated the association between RA and single-nucleotide polymorphisms (SNPs) of co-stimulatory or co-inhibitory molecules. The results showed that there were 13 SNPs associated with RA, which may play an important role in immune regulation and require further research into the pathogenesis of RA.

FRONTIERS IN IMMUNOLOGY (2023)

Add to Collection

Article Genetics & Heredity

Assessment of interleukin 6 gene polymorphisms with rheumatoid arthritis

Jian Chen, Aijun Zhang, Yonghui Yang, Yufang Si, Dingjun Hao

Summary: The study demonstrated the correlation between IL-6 gene polymorphisms and susceptibility to rheumatoid arthritis, and confirmed that this relationship is restricted to age and gender in the Chinese Han population.

GENE (2021)

Add to Collection

Article Genetics & Heredity

Implications of Peptidyl Arginine Deiminase 4 gene transcription and polymorphisms in susceptibility to rheumatoid arthritis in an Iranian population

Zahra Bagheri-Hosseinabadi, Mohammad Reza Mirzaei, Ozrasadat Esmaeili, Fatemeh Asadi, Hassan Ahmadinia, Banafshe Shamsoddini, Mitra Abbasifard

Summary: This study found that the PADI4 gene rs1748033 single nucleotide polymorphism (SNP) is associated with an increased risk of rheumatoid arthritis (RA). The mRNA expression of PADI4 was significantly upregulated in RA patients compared to controls, and it was positively correlated with anti-CCP level, RF level, and CRP level.

BMC MEDICAL GENOMICS (2023)

Add to Collection

Article Immunology

Proteomic Changes of Osteoclast Differentiation in Rheumatoid and Psoriatic Arthritis Reveal Functional Differences

Orsolya Tuende Kovacs, Eszter Toth, Oliver Ozohanics, Eszter Soltesz-Katona, Nikolett Marton, Edit Iren Buzas, Laszlo Hunyady, Laszlo Drahos, Gabor Turu, Gyorgy Nagy

Summary: This study investigated the proteomic changes during osteoclast differentiation in healthy donors, RA, and PsA. The results showed increased expression of proteins involved in metabolic activity, secretory function, and cell polarity during differentiation, while immune signaling pathways were downregulated. The expression differences between healthy donors and RA/PsA patients were most noticeable after the final steps of differentiation. The study provides important insights into the pathophysiology of RA and PsA.

FRONTIERS IN IMMUNOLOGY (2022)

Add to Collection

Article Rheumatology

Association between psoriatic disease and lifestyle factors and comorbidities: cross-sectional analysis and Mendelian randomization

Sizheng Steven Zhao, Eftychia Bellou, Suzanne M. M. Verstappen, Michael J. Cook, Jamie C. Sergeant, Richard B. Warren, Anne Barton, John Bowes

Summary: Observational and genetic evidence suggest that BMI and glycemic control are associated with increased risk of psoriatic disease, while psoriatic disease is associated with increased risk of coronary artery disease.

RHEUMATOLOGY (2023)

Add to Collection

Article Rheumatology

Non-trough adalimumab and certolizumab drug levels associated with a therapeutic EULAR response in adherent patients with rheumatoid arthritis

Ryan M. Hum, Pauline Ho, Nisha Nair, Meghna Jani, Ann W. Morgan, John D. Isaacs, Anthony G. Wilson, Kimme L. Hyrich, Darren Plant, Anne Barton

Summary: This study suggests that higher levels of TNF-a inhibitor serum drug levels (SDLs) are associated with good treatment response in fully adherent patients. Interventions to improve SDLs, such as encouraging adherence, may improve treatment response. The identified SDL cut-offs for adalimumab and certolizumab may be useful in clinical practice.

RHEUMATOLOGY (2023)

Add to Collection

Letter Rheumatology

Genetically proxied TYK2 inhibition is associated with reduced sarcoidosis susceptibility

Sizheng Steven Zhao, Anne Barton, John Bowes

ANNALS OF THE RHEUMATIC DISEASES (2023)

Add to Collection

Article Clinical Neurology

Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21

Katherine Sadler, John Bowes, Charlie F. Rowlands, Cristina Perez-Becerril, C. Mwee van der Meer, Andrew T. King, Scott A. Rutherford, Omar N. Pathmanaban, Charlotte Hammerbeck-Ward, Simon K. W. Lloyd, Simon R. Freeman, Ricky Williams, Cathal John Hannan, Daniel Lewis, Steve Eyre, D. Gareth Evans, Miriam J. Smith

Summary: A genome-wide association study revealed that rs1556516 in the 9p21.3 region is associated with the risk of vestibular schwannoma. The dysregulation of CDKN2B-AS1 and CDKN2A/B genes in this region has been linked to multiple pathologies, and these genes have been shown to influence each other's expression. The recurrent associations of the 9p21.3 region with known oncogenic pathways provide compelling evidence for its involvement in vestibular schwannoma tumorigenesis.

BRAIN (2023)

Add to Collection

Article Biochemistry & Molecular Biology

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

Lynne Hocking, Claire Andrews, Christine Armstrong, Morad Ansari, David Baty, Jonathan Berg, Therese Bradley, Caroline Clark, Austin Diamond, Jill Doherty, Anne Lampe, Ruth McGowan, David Moore, Dawn O'Sullivan, Andrew Purvis, Javier Santoyo-Lopez, Paul Westwood, Michael Abbott, Nicola J. Williams, Zosia Scottish Genomes Partnership, Timothy Aitman, Zosia Miedzybrodzka

Summary: Scottish NHS genetics centres investigated the diagnostic utility of the Genomics England 100,000 Genomes Project for rare, inherited conditions. Genome sequencing with gene panel filtering and reporting showed improved diagnostic yield compared to previous testing, but not compared to routine trio-exome sequence tests. Re-interpretation of genomic data using updated gene panels modestly increased diagnostic yield. Efficient methods for analyzing structural variation or decreased costs are needed to justify the additional expense of genome sequencing over exome sequencing.

EUROPEAN JOURNAL OF HUMAN GENETICS (2023)

Add to Collection

Article Cardiac & Cardiovascular Systems

Somatostatin Receptor PET/MR Imaging of Inflammation in Patients With Large Vessel Vasculitis and Atherosclerosis

Andrej Corovic, Christopher Wall, Meritxell Nus, Deepa Gopalan, Yuan Huang, Maria Imaz, Michal Zulcinski, Marta Peverelli, Anna Uryga, Jordi Lambert, Dario Bressan, Robert T. Maughan, Charis Pericleous, Suraiya Dubash, Natasha Jordan, David R. Jayne, Stephen P. Hoole, Patrick A. Calvert, Andrew F. Dean, Doris Rassl, Tara Barwick, Mark Iles, Mattia Frontini, Greg Hannon, Roido Manavaki, Tim D. Fryer, Luigi Aloj, Martin J. Graves, Fiona J. Gilbert, Marc R. Dweck, David E. Newby, Zahi A. Fayad, Gary Reynolds, Ann W. Morgan, Eric O. Aboagye, Anthony P. Davenport, Helle F. Jorgensen, Ziad Mallat, Martin R. Bennett, James E. Peters, James H. F. Rudd, Justin C. Mason, Jason M. Tarkin

Summary: This study investigates the feasibility of using somatostatin receptor 2 (SST2) as a molecular imaging target for inflammation in large vessel vasculitis (LVV), and provides evidence for its potential in the diagnosis and therapeutic monitoring of LVV.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2023)

Add to Collection

Article Dermatology

Association of Lipid-Lowering Drugs With Risk of Psoriasis A Mendelian Randomization Study

Sizheng Steven Zhao, Zenas Z. N. Yiu, Anne Barton, John Bowes

Summary: This study investigates the causal association between genetically proxied lipid-lowering drugs and psoriasis risk using mendelian randomization. It suggests that PCSK9 is implicated in psoriasis pathogenesis, and its inhibition is associated with reduced psoriasis risk.

JAMA DERMATOLOGY (2023)

Add to Collection

Article Biochemical Research Methods

BBmix: a Bayesian beta-binomial mixture model for accurate genotyping from RNA-sequencing

Elena Vigorito, Anne Barton, Costantino Pitzalis, Myles J. Lewis, Chris Wallace

Summary: In this study, a Bayesian beta-binomial mixture model (BBmix) is proposed for calling genotypes using RNA-Seq data, which can model specific biases in RNA-Seq. The benchmarking results show that BBmix generally outperforms competitors in genotype calling, with an increase of up to 1.4% in the accuracy of heterozygous calls. BBmix can be easily incorporated into standard genotype calling pipelines and the model parameters are generally transferable within datasets, making it possible to call genotypes in a large number of samples with less than 1 hour of learning.

BIOINFORMATICS (2023)

Add to Collection

Letter Rheumatology

The Effect of COVID-19 on Medication Adherence in a Rheumatoid Arthritis (BRAGGSS) and Psoriatic Arthritis (OUTPASS) UK Cohort

Philippa D. K. Curry, Hector Chinoy, Meghna Jani, Darren Plant, Kimmie L. Hyrich, Ann W. Morgan, A. G. Wilson, John D. Isaacs, Andrew P. Morris, Anne Barton, James Bluett

JOURNAL OF RHEUMATOLOGY (2023)

Add to Collection

Article Biochemistry & Molecular Biology

An Automated Method for Artifical Intelligence Assisted Diagnosis of Active Aortitis Using Radiomic Analysis of FDG PET-CT Images

Lisa M. Duff, Andrew F. Scarsbrook, Nishant Ravikumar, Russell Frood, Gijs D. van Praagh, Sarah L. Mackie, Marc A. Bailey, Jason M. Tarkin, Justin C. Mason, Kornelis S. M. van der Geest, Riemer H. J. A. Slart, Ann W. Morgan, Charalampos Tsoumpas

Summary: The aim of this study was to develop and validate an automated pipeline for diagnosing active aortitis using radiomic imaging biomarkers from FDG PET-CT images. The aorta was automatically segmented using a CNN. Radiomic features were extracted, and three different radiomic fingerprints were constructed. The pipeline showed good diagnostic performance across multiple datasets, indicating its potential for generalizability and use in automated clinical decision-making.

BIOMOLECULES (2023)

Add to Collection

Article Genetics & Heredity

Validation of lung cancer polygenic risk scores in a high-risk case-control cohort

Mikey B. Lebrett, Miriam J. Smith, Emma J. Crosbie, John Bowes, Helen J. Byers, Gareth Evans, Philip A. J. Crosbie

Summary: The study investigated the performance of previously published polygenic risk scores (PRSs) for lung cancer (LC) and found that genetic variables could be used for screening selection and potentially improve screening effectiveness. Among the 9 PRSs validated in a high-risk case-control cohort, the best-performing PRS had an independent high area under the curve (AUC). Two novel loci, in the DAPK1 and MAGI2 genes, were significantly associated with LC risk. These findings suggest that PRSs may improve LC risk prediction and screening selection.

GENETICS IN MEDICINE (2023)

Add to Collection

Article Rheumatology

A proteomics study of rheumatoid arthritis patients on etanercept identifies putative biomarkers associated with clinical outcome measures

Stephanie F. Ling, Chuan Fu Yap, Nisha Nair, James Bluett, Ann W. Morgan, John D. Isaacs, Anthony G. Wilson, Kimme L. Hyrich, Anne Barton, Darren Plant

Summary: This study aimed to identify proteomic biomarkers associated with clinical outcome measures in patients with rheumatoid arthritis (RA) starting biologic disease-modifying antirheumatic drugs (bDMARDs). Through SWATH-MS analysis of serum samples from RA patients before and after 3 months of treatment, ten proteins were found to be significantly associated with clinical outcome measures, and one of them was validated in an independent cohort.

RHEUMATOLOGY (2023)

Add to Collection

Article Rheumatology

Expression quantitative trait loci analysis in rheumatoid arthritis identifies tissue specific variants associated with severity and outcome

Katriona Goldmann, Athina Spiliopoulou, Andrii Iakovliev, Darren Plant, Nisha Nair, Cankut Cubuk, Paul McKeigue, Michael R. Barnes, Anne Barton, Costantino Pitzalis, Myles J. Lewis

Summary: This study conducted expression quantitative trait locus (eQTL) analysis using RNA-Sequencing to explore the link between genetic variants and gene expression in rheumatoid arthritis (RA) patients. The analysis identified 898 eQTL genes in synovium and blood, with 232 genes in common. A specific eQTL at HLA-DPB2 was found to be associated with clinical severity and the lympho-myeloid pathotype.

ANNALS OF THE RHEUMATIC DISEASES (2023)

Add to Collection

No Data Available

© Peeref 2019-2024. All rights reserved.