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The relationship between single nucleotide polymorphism (SNP) of interleukin-17 (IL-17A), transforming growth factor β (TGF-β), as well as its receptor (TGFR-β2) and susceptibility to intracerebral hemorrhage in patients with brain arteriovenous malformation (BAVM) was investigated in the present study. A total of 53 patients with BAVM and 120 healthy controls were recruited, all of whom were Han Chinese from South China. There were no statistically significant differences in the IL-17A-197 guanine/adenine (G/A) or TGF-β1-509 cytosine/thymine (C/T) genotypes or gene frequencies between BAVM patients and controls (p>0.05), but the gene frequency of the TGFR-β2-875 A/G genotype in patients with BAVM was significantly higher (p<0.05). Furthermore, the frequencies of the G allele of IL-17A-197 G/A and TGFR-β2-875 A/G in BAVM patients with hemorrhage were higher than those without hemorrhage. TGFR-β2-875 G/G genotype is a risk factor for BAVM, and the IL-17A-197 G/A and TGFR-β2-875 A/G genotype is closely related to hemorrhage risk for patients with BAVM.
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http://dx.doi.org/10.1016/j.jocn.2011.02.010 | DOI Listing |
Biomol Biomed
September 2025
Clinical Research Directorate, Ignacio Chávez National Institute of Cardiology, Mexico City, Mexico.
Rheumatoid arthritis (RA) is a chronic autoimmune disease in which dysregulated interferon regulatory factor 5 (IRF5) may amplify pro-inflammatory pathways; prior genetic studies of IRF5 single-nucleotide variants (SNVs) in RA are inconsistent across populations and have not included mestizo Mexicans or evaluated rs59110799 in RA. We aimed to test whether four IRF5 SNVs (rs2004640G/T, rs2070197T/C, rs10954213G/A, rs59110799G/T) confer susceptibility to RA in women from Central Mexico. In a case-control study of 239 women with RA and 231 female controls (all self-identified Mexican-Mestizos, ≥3 generations), genotyping was performed by real-time PCR with TaqMan® probes; 80% of samples were duplicated (100% concordance) and control genotypes conformed to Hardy-Weinberg equilibrium.
View Article and Find Full Text PDFCell Mol Biol (Noisy-le-grand)
September 2025
Department of Biology, College of Education for Pure Sciences, University of Kerbala, Kerbala, Iraq.
Gastric cancer is one of the causes of deaths related to cancer across the globe and both genetic and environmental factors are the most prominent. Causes of its pathogenesis. This paper researches the expression of the C-FOS gene.
View Article and Find Full Text PDFJ Child Neurol
September 2025
Department of Neurology, Nationwide Children's Hospital, Columbus, OH, USA.
This case report describes the use of doxazosin (Cardura) as a treatment for a patient with an autosomal dominant , single-nucleotide R398Q pathogenic variant, which has not previously been described in the literature. The patient has gain-of-function pathogenic genetic variant. Because of the patient's continued seizure burden with the use of traditional antiseizure medications and failed invasive antiseizure interventions, an oocyte cell line with the specific genetic variant was created to test efficacy of various medications.
View Article and Find Full Text PDFPlant Dis
September 2025
South Dakota State University, 2380 Research Parkway, 113B Seed Tech, Brookings, Brookings, South Dakota, United States, 57007;
Bacterial leaf streak (BLS), caused by pv. (), has recently emerged as a significant threat to wheat production in the Northern Great Plains region of the US. Deploying resistant cultivars is an economical and practical method of controlling BLS.
View Article and Find Full Text PDFBrief Funct Genomics
January 2025
School of Mathematics and Statistics, Henan University of Science and Technology, No. 263 Kaiyuan Avenue, Luolong District, Luoyang, Henan 471000, China.
Background: Comorbidities and genetic correlations between gastrointestinal tract diseases and psychiatric disorders have been widely reported, but the underlying intrinsic link between Alzheimer's disease (AD) and inflammatory bowel disease (IBD) is not adequately understood.
Methods: To identify pathogenic cell types of AD and IBD and explore their shared genetic architecture, we developed Pathogenic Cell types and shared Genetic Loci (PCGL) framework, which studied AD and IBD and its two subtypes of ulcerative colitis (UC) and Crohn's disease (CD).
Results: We found that monocytes and CD8 T cells were the enriched pathogenic cell types of AD and IBDs, respectively.