Adolescent idiopathic scoliosis (AIS) is a structural curvature of the spine that was estimated to affect millions of children worldwide. Recent study shows that the functional variant rs10738445 could add to the risk of AIS through the regulation of BNC2 gene. This study aims to investigate whether the rs10738445 of BNC2 gene is a functional susceptible locus for AIS in the Chinese population and to further clarify the association of the BNC2 expression with the curve severity. SNP rs10738445 was genotyped in 1952 patients and 2492 controls, and further replicated in 693 patients and 254 controls. We found that patients have a significantly higher frequency of CC than the controls (21.9 vs. 17.7%, p = 0.004 for stage 1; 12.6 vs. 7.9%, p = 0.03 for stage 2). Allele C can significantly add to the risk of AIS with an OR of 1.14-1.24. AIS patients were found to have significantly higher BNC2 expression than the controls. The BNC2 expression was significantly correlated with the curve severity (r = 0.316, p = 0.02). In conclusion, our study suggests a functional role of BNC2 in the development and progression of the spinal deformity in AIS.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1007/s00438-017-1315-3 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Article Synopsis
- BDNF (Brain-derived neurotrophic factor) is vital for nerve cell growth and survival, with forms that bind to different receptors affecting brain development, especially during the neonatal period.
- Disruptions in BDNF levels during this critical time can lead to long-term behavioral issues, including increased anxiety and depression in adolescents.
- The study found that elevated levels of mature BDNF contributed to these behaviors, while mutant BDNF led to opposite transcriptional changes, suggesting a significant link between BDNF variations and the development of neurobehavioral disorders.
Genetic Etiology Investigation in Treatment-Resistant Nocturnal Enuresis Children: A descriptive study.
Urol J
December 2024
Health Sciences University Umraniye Training and Research Hospital, Department of Medical Genetics, Istanbul, Turkey.
Article Synopsis
- The study aimed to identify genetic factors contributing to treatment-resistant nocturnal enuresis in children who had already undergone various therapies.
- Twenty-one patients aged 5-18 with treatment-resistant enuresis were analyzed using a specialized genetic panel that included 19 genes associated with the condition.
- Results showed that 20 patients had no significant genetic changes, while one patient had a variant in the AQP2 gene, suggesting that nocturnal enuresis is likely influenced by multiple factors rather than a single genetic cause.
Overexpression of Basonuclin Zinc Finger Protein 2 in stromal cell is related to mesenchymal phenotype and immunosuppression of mucinous colorectal adenocarcinoma.
Int Immunopharmacol
December 2024
The Yangzhou Clinical Medical College of Xuzhou Medical University, Yangzhou, Jiangsu 225009, China; Northern Jiangsu People's Hospital, Yangzhou, Jiangsu 225009, China. Electronic address:
Background: Mucinous carcinoma (MC) is a distinct histologic subtype of colorectal cancer (CRC) that is less studied and associated with poor prognosis. This study aimed to identify MC-specific therapeutic targets and biomarkers to improve the prognosis of this aggressive disease.
Methods: CRC samples from The Cancer Genome Atlas (TCGA) were categorized into MC and non-MC (NMC) groups based on histologic type.
Genetic structure analysis of yak breeds and their response to adaptive evolution.
Genomics
September 2024
Key Laboratory of Animal Genetics and Breeding on Tibetan Plateau, Ministry of Agriculture and Rural Affairs, Lanzhou Institute of Husbandry and Pharmaceutical Sciences, Chinese Academy of Agricultural Sciences, Lanzhou 730050, China; Western Agricultural Research Center, Chinese Academy of Agricultural Sciences, Changji 831100, China. Electronic address:
Article Synopsis
- * Researchers conducted Whole Genome Resequencing (WGRS) and single-cell RNA sequencing (scRNA-seq) to study yak genetic diversity and adaptability, revealing significant genetic differences among various yak populations and highlighting specific genes linked to high-altitude adaptations.
- * Key findings identified genes such as HIF1A and EPAS1, which are crucial for oxygen adaptation in yaks, along with other genes related to coat color that could advance our understanding of both yak biology and the genetics of high-altitude mammals,
O-GlcNAcylation controls pro-fibrotic transcriptional regulatory signaling in myofibroblasts.
Cell Death Dis
June 2024
Univ. Lille, Inserm, CHU Lille, Institut Pasteur de Lille, U1011-EGID, Lille, France.
Tissue injury causes activation of mesenchymal lineage cells into wound-repairing myofibroblasts (MFs), whose uncontrolled activity ultimately leads to fibrosis. Although this process is triggered by deep metabolic and transcriptional reprogramming, functional links between these two key events are not yet understood. Here, we report that the metabolic sensor post-translational modification O-linked β-D-N-acetylglucosaminylation (O-GlcNAcylation) is increased and required for myofibroblastic activation.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!