scholarly journals SLAMF6 is associated with the susceptibility and severity of rheumatoid arthritis in the Chinese population

2022 ◽  
Vol 17 (1) ◽  
Author(s):  
Guodong Xia ◽  
Yetian Li ◽  
Wei Pan ◽  
Chengmei Qian ◽  
Lin Ma ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Gene Expression ◽  
Expression Analysis ◽  
Chinese Population ◽  
Gene Expression Analysis ◽  
Genome Wide Association Study ◽  
Tissue Expression ◽  
Chi Square ◽  
Significant Difference ◽  
Student’S T

Abstract Objectives A recently published genome-wide association study identified six novel loci associated with rheumatoid arthritis (RA) in Korean population. We aimed to investigate whether these newly reported RA-risk loci are associated with RA in the Chinese population and to further characterize the functional role of the susceptible gene. Methods The susceptible variants of RA were genotyped in 600 RA patients and 800 healthy controls, including rs148363003 of SLAMF6, rs117605225 of CXCL13, rs360136 of SWAP70, rs111597524 of NFKBIA, rs194757 of ZFP36L1 and rs1547233 of LINC00158. Synovial tissues were collected from the knee joint of 50 RA patients and 40 controls without osteoarthritis for the gene expression analysis. Inter-group comparisons were performed with the Chi-square test for genotyping data or with Student's t-test for gene expression analysis. Result For rs148363003 of SLAMF6, RA patients were observed to have a significantly lower frequency of genotype CC (4.5% vs. 0.9%, p = 0.004) as compared with the controls. The frequency of allele C was remarkably higher in the patients than in the controls (11.5% vs. 8.0%, p = 0.002), with an odds ratio of 1.49 (95% CI = 1.16–1.92). There was no significant difference between the patients and the controls regarding genotype or allele frequency of the other 5 variants. The mRNA expression of SLAMF6 was 1.6 folds higher in the RA patients than in the controls. Moreover, SLAMF6 expression was 1.5 folds higher in patients with genotype CC than in the patients with genotype TT. Conclusions SLAMF6 was associated with both the susceptibility and severity of RA in the Chinese population. Moreover, rs148363003 could be a functional variant regulating the tissue expression of SLAMF6 in RA patients. It is advisable to conduct further functional analysis for a comprehensive knowledge on the contribution of this variant to the development of RA.

Gene Expression Levels Of Imatinib Transporters and Molecular Response To Imatinib Therapy In Chronic Myeloid Leukemia Patients

Blood ◽  
2013 ◽  
Vol 122 (21) ◽  
pp. 4959-4959
Author(s):  
Hemant Malhotra ◽  
Pratibha Sharma ◽  
Shipra Bhargava ◽  
Bharti Malhotra ◽  
Madhu Kumar
Keyword(s):  
Gene Expression ◽  
Expression Analysis ◽  
Gene Expression Analysis ◽  
Conflicts Of Interest ◽  
Imatinib Therapy ◽  
Molecular Response ◽  
Transcript Expression ◽  
Analysis Study ◽  
Expression Levels ◽  
Significant Difference

Abstract Imatinib mesylate (IM) is the standard first-line treatment for most CML patients. After an initial response, approximately 30 to 40% patients develop resistance to the drug. Various mechanisms of resistance to Imatinib therapy have been identified. One of the mechanisms proposed is varying expression levels of the drug transporters. In the present study, we determined the relative expression levels of Imatinib transporter genes (hOCT1, ABCB1, ABCG2) in CML patients by quantitative real time polymerase chain reaction (qRT-PCR) and correlated these levels with molecular response. One hundred and ten CML patients were considered for gene expression analysis study for hOCT1 gene and eighty seven CML patients were considered for gene expression analysis study for ABCB1 and ABCG2 genes. CML patients who were on IM therapy for more than 2 years were divided into two groups: Responders: patients who achieve a Complete Molecular response (CMR) or a Major Molecular Response (MMR) [bcr/abl: abl ratio <1% as assessed by RQ-PCR] and Non-responders: those without CMR or MMR (bcr/abl: abl ratio =/> 1% as assessed by RQ-PCR). The relative transcript expression levels of the three genes were compared between responders and non-responders. No significant difference in the expression levels of hOCT1, ABCB1 and ABCG2 was found between the two categories - responders versus non-responders (p value > 0.05). The median transcript expression levels of hOCT1, ABCB1 and ABCG2 genes in responders were 30.63, 10.14 and 0.59 versus 40.13, 8.34 and 0.53 in non-responders, respectively. We conclude that, in our study, the mRNA expression levels of IM transporter genes did no correlate with molecular response in CML patients. Disclosures: No relevant conflicts of interest to declare.

Does gene expression analysis inform us in rheumatoid arthritis?

2009 ◽  
Vol 69 (Suppl 1) ◽  
pp. i37-i42 ◽  
Author(s):  
T Haupl ◽  
B Stuhlmuller ◽  
A Grutzkau ◽  
A Radbruch ◽  
G-R Burmester
Keyword(s):  
Rheumatoid Arthritis ◽  
Gene Expression ◽  
Expression Analysis ◽  
Gene Expression Analysis

2 Intrafollicular injection of asprosin in water buffaloes and the potential role of FBN1 mRNA and asprosin in follicular function

2021 ◽  
Vol 33 (2) ◽  
pp. 108
Author(s):  
E. R. Maylem ◽  
L. Spicer ◽  
E. Atabay ◽  
E. Atabay ◽  
I. Batalha ◽  
...  
Keyword(s):  
Gene Expression ◽  
Growth Rate ◽  
Expression Analysis ◽  
Gene Expression Analysis ◽  
Mrna Abundance ◽  
Follicular Growth ◽  
Significant Difference ◽  
Follicle Size ◽  
Phosphate Buffered Saline

Fibrillin-1 (FBN1) functions as a structural protein in the ovary, whereas the role of its protein product asprosin remains unknown. Both proteins are encoded by the FBN1 gene; when it is cleaved at the C-terminal end, asprosin is produced. Asprosin acts as an orexigenic hormone and is associated with various metabolic parameters and sex related hormones in women. One goal of this research was to quantify FBN1 and the presumed asprosin receptor, olfactory receptor family 4 subfamily M member 1 (OR4M1) mRNA in water buffalo granulosa cells (GC) and correlate them to aromatase (CYP19A1) gene expression. A second goal was to determine the effect of asprosin on follicular growth invivo. In Experiment 1, ovaries were collected from a local slaughterhouse, GC from small (&lt;6mm) and large (6–13mm) follicles were aspirated, RNA was extracted, and gene expression analysis conducted. In Experiment 2, an intrafollicular injection of asprosin (6μL of asprosin in 194μL of phosphate-buffered saline; to achieve 20ng mL−1) or vehicle (200μL of phosphate-buffered saline; Controls) was given via the ovarian stroma below the dominant follicle of synchronized cows (n=5/group) 1 day after injection of prostaglandin F2α, and follicle sizes were measured daily via transrectal ultrasonography until the day of ovulation. Means were compared using t-test for gene expression analysis, and Pearson correlation coefficients calculated among FBN1, OR4M1, and CYP19A1 gene expression. A repeated-measures ANOVA was used to determine the effect of asprosin on follicle size and growth rate of follicles. In Experiment 1, FBN1 mRNA abundance was 7.51-fold greater in GC of small than large follicles (P&lt;0.05). There was no significant difference in the OR4M1 (57.83±39.89 vs. 38.98±4.86) or CYP19A1 (11.46±3.72 vs. 8.27±4.81) mRNA abundance between the 2 sizes of follicles (P&gt;0.10). Abundance of CYP19A1 mRNA was positively correlated with FBN1 (r=0.55, P&lt;0.05) and OR4M1 mRNA (r=0.50, P&lt;0.05). In Experiment 2, there was a treatment×day interaction (P&lt;0.10) for follicle size and growth rate of follicles. Cows treated with asprosin had a higher growth rate from Day 1 to 2 (1.09±0.39 to 2.37±0.32 mm/day) than placebo cows (1.74±0.55 to 1.05±0.61 mm/day) after injection. Most of the follicles from both treatment groups ovulated 3 days post injection. These findings suggest that FBN1 (and thus asprosin) are present in buffalo GC and may be developmentally expressed. Also, asprosin may induce follicular growth when given invivo. Whether these proteins directly regulate aromatase expression, and therefore oestradiol production, during follicle development will require further study.

Comprehensive genomic analysis in metastatic pancreatic ductal adenocarcinoma (PDAC).

2016 ◽  
Vol 34 (4_suppl) ◽  
pp. 285-285
Author(s):  
Hui-Li Wong ◽  
Martin Jones ◽  
Peter Eirew ◽  
Joanna Karasinska ◽  
Kasmintan A Schrader ◽  
...  
Keyword(s):  
Gene Expression ◽  
Expression Analysis ◽  
Gene Expression Analysis ◽  
De Novo ◽  
Expression Patterns ◽  
Genomic Analysis ◽  
Ductal Adenocarcinoma ◽  
Tumor Biopsy ◽  
Significant Difference ◽  
Gene Expression Signatures

285 Background: In the absence of defined tumor molecular subtypes and validated predictive markers, PDAC has been largely treated as a single disease. Recent studies of molecular subtyping in PDAC reveal a complex mutational landscape with data suggesting the presence of genomic and gene expression signatures that may have prognostic and therapeutic significance. These studies predominantly focused on resected PDAC and lack data on metastatic tumors. We aim to explore the clinical utility of whole genome sequencing (WGS) and transcriptome analysis from metastatic biopsy samples in patients (pts) with advanced PDAC. Methods: Pts with incurable advanced cancers undergo tumor biopsy for in-depth WGS and RNA sequencing (RNASeq) as part of an ongoing prospective study (NCT02155621). Comprehensive bioinformatics analysis is performed to identify somatic cancer aberrations, gene expression changes and cellular pathway abnormalities. Here we describe clinical and molecular data on the subset of pts with advanced PDAC. Results: Sixteen PDAC pts have been enrolled; median age 59 years, 8 males (50%), 10 with de novo metastases (63%). Full WGS and RNASeq were completed in 11 pts (1 failed biopsy, 4 had insufficient tumor). KRAS codon 12 and TP53 mutations were present in all but one pt. CDKN2A and SMAD4 were also frequently altered (7 and 4 pts respectively). Gene expression analysis for classical and basal subtypes similar to those recently described (PMID 26343385) identified 3 and 6 pts with classical and basal expression patterns respectively, and 2 pts with mixed expression. Overall survival (OS) was significantly worse for the basal subtype vs all others (median OS 7 vs. 13.9 months (ms), p = 0.017). When separated into 3 subtypes a significant difference was still noted (median OS 7 ms in basal, 19.2 ms in classical and 11.8 ms in mixed subtype, p = 0.032). Conclusions: WGS analysis demonstrated a similar mutation pattern to that described in resectable PDAC, with no novel actionable mutations identified. Gene expression analysis demonstrated the presence of distinct gene expression signatures significantly associated with outcome, despite small pt numbers. These results need to be validated prospectively in larger cohorts. Clinical trial information: NCT02155621.

scholarly journals Gene expression analysis of vascular pathophysiology related to anti-TNF treatment in rheumatoid arthritis

2019 ◽  
Vol 21 (1) ◽  
Author(s):  
Szilárd Póliska ◽  
Timea Besenyei ◽  
Edit Végh ◽  
Attila Hamar ◽  
Anita Pusztai ◽  
...  
Keyword(s):  
Rheumatoid Arthritis ◽  
Gene Expression ◽  
Expression Analysis ◽  
Gene Expression Analysis
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