We aimed to determine in psoriatic arthritis (PsA) patients the Toll-like receptor (TLR) 4 and C-reactive gene (CRP) polymorphisms and allele frequency and to investigate the relationship between clinical parameters and gene polymorphisms. We enrolled in this study 31 PsA and 41 healthy control subjects. PsA diagnosis was according to CASPAR criteria. Bath ankylosing spondylitis diseases activity index, Maastricht ankylosing spondylitis enthesitis score, and Bath ankylosing spondylitis functional index were measured. C, A, and T alleles of CRP and A and G alleles of TLR 4 were determined using the analysis of melting curves after real-time PCR. CRP A, C, and T allele frequency in controls was 26.8, 73.2, and 36.6%, respectively. In the PsA patient group, A, C, and T allele frequency was 9.7, 87.1, and 12.9%, respectively. Between control and PsA groups, there was a significant difference in A, C, and T allele frequency (P = 0.008, 0.038, and 0.001, respectively). The frequency of CRP gene polymorphisms (CA, AA, CT, TA, and TT alleles) in the control group was 56.1% and in the PsA group was 22.6%. There was a significant difference between the two groups (P = 0.004). The absence of a CRP gene polymorphism was a risk factor for PsA (odds ratio 4.3, 95% CI; 1.5-12.4, P = 0.005). TLR gene haploid frequency was investigated, and all control subjects had the wild-type AA allele. PsA patient GA allele frequency was 6.5%. There was no significant difference between the two groups (P = 0.182). GA mutant allele frequency was related to PsA (odds ratio 7.03, 95% CI; 0.32-151.9, P = 0.214). We have shown that CRP gene polymorphisms are higher in control subjects than PsA patients, and TLR 4 gene polymorphisms were found to be related to PsA.
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http://dx.doi.org/10.1007/s10067-014-2581-7 | DOI Listing |
Mol Oncol
January 2025
System Biology, Graduate School of Advanced Preventive Medical Sciences, Kanazawa University, Japan.
Pancreatic ductal adenocarcinoma (PDAC) is a disease with poor prognosis due to diagnostic and therapeutic limitations. We previously identified cystatin A (CSTA) as a PDAC biomarker and have conducted the present study to investigate the antitumor effects of CSTA. PDAC murine models were established with genetically modified PAN02 tumor cell lines to evaluate the antitumor immune response.
View Article and Find Full Text PDFGenet Mol Biol
January 2025
University of KwaZulu-Natal, Howard College, College of Health Sciences, School of Laboratory Medicine and Medical Sciences, Department of Medical Biochemistry, Durban, South Africa.
Methylenetetrahydrofolate reductase (MTHFR) gene is involved in homocysteine and folic acid metabolism. Tumour suppressor protein TP53 gene maintains cellular and genetic integrity. To date, no studies associated the MTHFR C677T rs1801133 and TP53 Pro72Arg rs1042522 with CRP levels and methotrexate (a folic acid antagonist) treatment outcomes in psoriatic arthritis (PsA) patients.
View Article and Find Full Text PDFPaediatr Drugs
January 2025
Springer Nature, Private Bag 65901, Mairangi Bay, Auckland, 0754, New Zealand.
Oral ganaxolone (ZTALMY), a synthetic analogue of the endogenous neuroactive steroid allopregnanolone, acts as a positive allosteric modulator of synaptic and extra-synaptic γ-aminobutyric acid (GABA) type A receptor function in the CNS. In the EU and the UK, it is approved for the adjunctive treatment of epileptic seizures associated with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) in patients aged 2-17 years. In a multinational phase III study (Marigold), 17 weeks' therapy with adjunctive ganaxolone, administered orally three times daily with food, significantly reduced 28-day major motor seizure frequency from baseline versus placebo in patients aged 2-19 years with CDD-associated refractory epilepsy.
View Article and Find Full Text PDFJ Appl Genet
January 2025
Department of Neurogenetics and Functional Genomics, Mossakowski Medical Research Institute, Polish Academy of Sciences, Pawińskiego 5, 02-106, Warsaw, Poland.
Gilles de la Tourette syndrome (GTS) and other tic disorders (TDs) have a substantial genetic component with their heritability estimated at between 60 and 80%. Here we propose an oligogenic risk score of TDs using whole-genome sequencing (WGS) data from a group of Polish GTS patients, their families, and control samples (n = 278). In this study, we first reviewed the literature to obtain a preliminary list of 84 GTS/TD candidate genes.
View Article and Find Full Text PDFYi Chuan
January 2025
Institute of Vertebrate Paleontology and Paleoanthropology, Chinese Academy of Sciences, Beijing 100044, China.
Over the past decade, the continuous development of ancient genomic technology and research has significantly advanced our understanding of human history. Since 2017, large-scale studies of ancient human genomes in East Asia, particularly in China, have emerged, resulting in a wealth of ancient genomic data from various time periods and locations, which has provided new insights into the genetic history of East Asian populations over tens of thousands of years. Especially since 2022, there emerged a series of new research progresses in the genetic histories of the northern and southern Chinese populations within the past 10,000 years.
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