Neurological Research最新文献

{"title":"Impact of temporomandibular disorder comorbidity on pain, quality of life, sleep, and functional outcomes in chronic migraine patients not using preventive treatment: a cross-sectional study.","authors":"Alper Mengi, Ugur Uygunoglu","doi":"10.1080/01616412.2025.2507755","DOIUrl":"https://doi.org/10.1080/01616412.2025.2507755","url":null,"abstract":"<p><strong>Objectives: </strong>To investigate pain, quality of life, sleep, and functional outcomes between chronic migraine (CM) patients with temporomandibular disorder (TMD) and patients with CM alone.</p><p><strong>Methods: </strong>Thirty one patients with CM and thirty one patients with CM+TMD were recruited in the study. All patients had not been on preventive treatment for CM or TMD in the previous three months. TMD was examined by physical examination, guided by the subdomains of the Helkimo Clinical Dysfunction Index (HCDI). All patients were evaluated for allodynia using the Allodynia Symptom Checklist (ASC-12), quality of life using the 36-item Short Form Health Survey (SF-36), headache-related disability using the Migraine Disability Assessment Scale (MIDAS) and the Headache Impact Test (HIT-6), and sleep quality using the Pittsburgh Sleep Quality Index (PSQI).</p><p><strong>Results: </strong>The average pain intensity was higher in patients with CM+TMD (<i>p</i> < 0.001). The number of patients with a migraine attack duration of more than 3 days were significantly higher in the same group (<i>p</i> = 0.001). ASC-12 scores were significantly elevated in patients with CM+TMD (<i>p</i> < 0.001). MIDAS and HIT-6 scores were significantly higher in the CM+TMD patient group (<i>p</i> = 0.010, <i>p</i> < 0.001, respectively). HCDI score was significantly positively correlated with age, BMI, average number of headache days in a month, ASC-12 score, PSQI sleep disturbance domain score, and PSQI total score (<i>r</i> = 0.625, 0.406, 0.417, 0.484, 0.499, and 0.487, respectively).</p><p><strong>Conclusion: </strong>In patients with CM, TMD comorbidity significantly associated with high average pain intensity, migraine attack duration, and allodynia. Physicians managing headaches should not overlook TMD symptoms in CM and should benefit from collaborating with TMD specialists to address TMD symptoms effectively.</p>","PeriodicalId":19131,"journal":{"name":"Neurological Research","volume":" ","pages":"1-9"},"PeriodicalIF":1.7,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144086466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuroprotective effect of Bergenin in diabetic neuropathy: modulation of AMPK and NF-κB signaling.","authors":"Ahmed I Foudah, Mohammed H Alqarni, Mohamed F Balaha, Sushma Devi, Aftab Alam","doi":"10.1080/01616412.2025.2504716","DOIUrl":"https://doi.org/10.1080/01616412.2025.2504716","url":null,"abstract":"<p><strong>Aim and objectives: </strong>This study explores the therapeutic potential of Bergenin (BER), a plant-derived bioactive compound, in treating diabetic neuropathy, with a focus on its effects on activated protein kinase (AMPK) signaling pathways.</p><p><strong>Methodology: </strong>Diabetic rats were randomly divided into several groups: a control group, an STZ-only group, control groups treated with varying doses of BER (10, 20, and 40 mg/kg), and a group treated with pregabalin (PRE) at 10 mg/kg. After the treatment period, blood samples and sciatic nerve tissues were collected for analysis.</p><p><strong>Results: </strong>The results showed that BER, particularly at the highest dose, produced a sustained reduction in blood glucose levels, indicating a potential dose-dependent effect. BER also significantly alleviated cold allodynia, mechanical allodynia, and mechanical hyperalgesia, supporting its promise as a pain management option for diabetic neuropathy. Treatment with 40 mg/kg BER notably reduced oxidative stress markers and boosted antioxidant levels. Additionally, BER inhibited NF-kβ activity, reduced neuroinflammation, and suppressed the production of inflammatory cytokines such as TNF-α and NF-kβ. Activation of AMPK, confirmed by elevated P-AMPK levels, suggests that BER may help restore damaged cellular pathways associated with diabetic neuropathy.</p><p><strong>Conclusion: </strong>In conclusion, BER demonstrates strong potential as a therapeutic agent, reducing inflammation and oxidative stress while enhancing nerve function, likely through modulation of AMPK signaling pathways.</p>","PeriodicalId":19131,"journal":{"name":"Neurological Research","volume":" ","pages":"1-18"},"PeriodicalIF":1.7,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Insights into modifiable risk factors of migraine: a Mendelian randomization analysis.","authors":"Junyi Yang, Yuanjie Duan, Qian Wu, Yumei Ma, Shutong Tan, Yue Zhang, Jian Zhang, Xu Liu","doi":"10.1080/01616412.2025.2504717","DOIUrl":"https://doi.org/10.1080/01616412.2025.2504717","url":null,"abstract":"<p><strong>Objectives: </strong>Increasing epidemiological evidence has reported that various factors are associated with migraine risk and subtypes. Nevertheless, definitive conclusions regarding whether the putative modifiable risk factors are causally related to the pathogenesis of migraine have not been drawn.</p><p><strong>Methods: </strong>Using single-nucleotide polymorphisms as instrumental variables, we conducted a two-sample Mendelian randomization (MR) analysis to investigate the causal effects of 38 modifiable factors, including dietary nutrients, lifestyle factors, cardiometabolic diseases, and associated traits, as well as reproductive characteristics and sex hormones, on the risk of migraine, migraine with aura (MA), and migraine without aura (MO). Subsequently, meta-analyses were performed to combine causal estimates from two independent genome-wide association studies.</p><p><strong>Results: </strong>In the combined findings with multiple test correction, genetically predicted higher alcohol intake frequency (odds ratio [OR]: 1.25; 95% confidence interval [CI]: 1.12-1.40), lifetime smoking index (OR: 1.24; 95% CI: 1.08-1.42), insomnia (OR: 1.20; 95% CI: 1.17-1.24), long sleep duration (OR: 1.26; 95% CI: 1.07-1.50), and hypertension (OR: 1.76; 95% CI: 1.47-2.11) were causally linked to migraine incidence. Subgroup analyses revealed higher carbohydrate and sugar intake, alcohol consumption frequency, lifetime smoking index, insomnia, and hypertension causally increased susceptibility to MA, while later age at first birth (AFB) had a protective effect on MA risk. Meanwhile, the MR findings revealed a detrimental association between alcohol intake frequency, insomnia, hypertension, and early AFB and MO incidence.</p><p><strong>Discussion: </strong>Overall, our study demonstrated various causal risk factors for migraine and its subtypes risk, providing insights into its pathogenesis and potential prevention strategies. Further research is needed to validate these findings and explore their clinical implications and underlying mechanisms.</p>","PeriodicalId":19131,"journal":{"name":"Neurological Research","volume":" ","pages":"1-20"},"PeriodicalIF":1.7,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144079257","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of the Autophagy-related Gene NLRC4 in spinal cord injury.","authors":"Qie Gu, Hongbo Fan, Siqi Zhang, Shuaishuai Xia, Xuemei Tan, Xiang Zhou","doi":"10.1080/01616412.2025.2503462","DOIUrl":"https://doi.org/10.1080/01616412.2025.2503462","url":null,"abstract":"<p><strong>Background/objectives: </strong>To investigate the role of the autophagy-related gene NLR Family CARD Domain Containing 4 (NLRC4) in spinal cord injury via bioinformatics methods, which may provide new targets for the diagnosis and treatment of spinal cord injury.</p><p><strong>Methods: </strong>This analysis is based on the GEO database dataset GSE151371. To identify potential autophagy-related genes involved in SCI, protein‒protein interaction (PPI) networks were analyzed. Immune microenvironment analysis (LM22) was performed via the CIBERSORTx database to determine the makeup of 22 immune cell types. Furthermore, a rat spinal cord injury model was generated, and the expression of selected autophagy-related genes was validated via immunofluorescence labeling and Western blotting.</p><p><strong>Results: </strong>Disease enrichment analysis via the Metascape database revealed enrichment for diseases related to the spinal cord, inflammation, infection, and immunity, which aligns with the functional analysis results of previously identified genes. Through the PPI and autophagy-related genes, we identified NLRC4 within the key subnetwork of the PPI network, highlighting its significance as a key signature gene associated with SCI. NLRC4 expression was significantly increased in the three groups, which was correlated with the severity of SCI. In the rat SCI model, NLRC4 protein expression was significantly greater in the SCI group than in the sham group (<i>p</i> < 0.001), confirming the validity of the model.</p><p><strong>Conclusions: </strong>Since NLRC4 is an important gene involved in the autophagy that leads to spinal cord damage, it can be utilized to illuminate the optimal approach to immunotherapy for individuals with SCI and uncover new targets for therapy.</p>","PeriodicalId":19131,"journal":{"name":"Neurological Research","volume":" ","pages":"1-16"},"PeriodicalIF":1.7,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144032361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring neuroprotective effects of PP2 in ischemic stroke via bioinformatics and experimental validation.","authors":"Shiyan Zhao, Jun Lu, Yanyan Zhao, Chang Qi, Chunrong Han","doi":"10.1080/01616412.2025.2505242","DOIUrl":"https://doi.org/10.1080/01616412.2025.2505242","url":null,"abstract":"<p><strong>Background: </strong>Ischemic stroke is a leading cause of mortality and disability worldwide, yet effective therapeutic options remain limited. In this study, bioinformatics analyses were used to identify potential therapeutic targets and small-molecule compounds for ischemic stroke. A mouse model of cerebral ischemia was subsequently used to validate their neuroprotective efficacy.</p><p><strong>Methods: </strong>Bioinformatics methods were used to analyze and identify key signaling pathways and hub genes associated with ischemic stroke. Additionally, the Connectivity Map (CMap) database was queried to identify potential small-molecule compounds for ischemic stroke treatment. Finally, a middle cerebral artery occlusion/reperfusion (MCAO/R) mouse model was employed to further evaluate the neuroprotective effects of the identified compounds.</p><p><strong>Results: </strong>GO and KEGG pathway enrichment analyses revealed that key signaling pathways such as TNF, NF-κB, and IL-17 play crucial roles in ischemic stroke. PPI network analysis identified five hub genes-IL-1β, IL-6, ICAM-1, Jun, and Fos-all closely associated with neuroinflammatory responses. The small-molecule compound PP2, a selective Src kinase inhibitor, was identified by CMap database. In the MCAO/R mouse model, PP2 exhibited significant neuroprotective effects. It reduced infarct volume and brain edema and improved neurological function. Mechanistically, PP2 inhibited Src phosphorylation, thereby suppressing the NF-κB signaling pathway and reducing levels of pro-inflammatory cytokines, including TNF-α, IL-1β, and IL-6.</p><p><strong>Conclusion: </strong>This study identifies Src kinase as a promising therapeutic target for ischemic stroke and highlights the value of bioinformatics in drug discovery and mechanistic research.</p>","PeriodicalId":19131,"journal":{"name":"Neurological Research","volume":" ","pages":"1-12"},"PeriodicalIF":1.7,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Electromagnetic field stimulation for long-term mobility assessment after sciatic nerve injury.","authors":"J R Carrillo-Márquez, M F Carrillo-Márquez, A Ceniceros-Obregón, E Gómez-Apo, A Escobar-España, L M Rodríguez-Serrano, J D Carrillo-Ruiz","doi":"10.1080/01616412.2025.2504715","DOIUrl":"https://doi.org/10.1080/01616412.2025.2504715","url":null,"abstract":"<p><strong>Introduction: </strong>Gauss (G) or miliTesla (mT) units measure electromagnetic field (EMF) stimulation. Tarlov Scale (TS) assesses motor impairment, Finger Abduction Scale (FAS) measures finger separation. The objective is to evaluate mobility using EMF in a Sciatic Nerve Injury (SNI) model.</p><p><strong>Materials & methods: </strong>SNI caused paresis in the right hind limb to observe motor changes in male Sprague-Dawley rats (372-529 g) (<i>N</i> = 30). Three groups of (<i>n</i> = 10) rats were created. Control Group (CG) was just injured. The experimental groups were EMF-treated two hours a day for four weeks (2/24, 5/7, 4/4), applying Gauss intensities: Low-Intensity (LIMF) 60-100 (6-10 mT) & High-Intensity (HIMF) 140-200 (14-20 mT). The mobility was measured each week with TS & FAS. Sciatic nerve & skeletal muscle histological slides were made with traditional staining technique to evaluate cellular inflammation. We used two-tailed repeated ANOVA measures & Bonferroni <i>post hoc</i> tests, with a significance <i>p</i> < 0.05 (α = 0.05) and β = 80%.</p><p><strong>Results: </strong>EMFs effectively treat SNI in rats, improving the mobility of the right hind limb in experimental groups. In the last week, TS scores were CG 3.5 (±1.35) <i>p</i> = 0.006, LIMF 4 (±0) <i>p</i> = 0.0001 & HIMF 4.3 (±0.82) <i>p</i> = 0.02. FAS scores were CG 0.2 (±0.42) <i>p</i> = 0.000001, LIMF 1.5 (±0.70) <i>p</i> = 0.05 & HIMF 1.8 (±0.42) <i>p</i> = 0.1. In histological findings, CG had inflammation in nerve & muscle, LIMF & HIMF diminished cellular activity.</p><p><strong>Discussion: </strong>TS & FAS helped to improve mobility in experimental groups using EMFs after SNI. The nerve repairing mechanism should be studied in future models.</p>","PeriodicalId":19131,"journal":{"name":"Neurological Research","volume":" ","pages":"1-10"},"PeriodicalIF":1.7,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144005585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relationship between white matter hyperintensity and atherogenic index of plasma in migraine.","authors":"Gulhan Sarıcam, Fahrettin Ege, Memet Aslanyavrusu","doi":"10.1080/01616412.2025.2502784","DOIUrl":"https://doi.org/10.1080/01616412.2025.2502784","url":null,"abstract":"<p><strong>Objective: </strong>White matter hyperintensities (WMH) are more commonly observed in patients with migraine compared to the general population; however, their pathophysiology remains incompletely understood. This study aims to investigate the relationship between the atherogenic index of plasma (AIP), a vascular risk marker, and WMH in patients with migraine.</p><p><strong>Methods: </strong>This study included 274 patients diagnosed with migraine according to the International Classification of Headache Disorders (ICHD-III). The relationship between WMH and AIP in migraine patients was validated by Two-State Logistic Regression Analysis, and the cubic spline curve was used to determine linearity.</p><p><strong>Results: </strong>The mean age of the patients with migraine was 36.26 ± 8.37 years and 82.8% (<i>n</i> = 227) were female. The the prevalence of aura (<i>p</i> = 0.028), age (<i>p</i> = 0.001) and mean disease duration (<i>p</i> < 0.001, <i>t</i>=-4.257) were significantly higher in migraine patients with WMH than those without WMH. AIP (<i>p</i> < 0.001, <i>t</i>=-6.667), triglyceride (TG) (<i>p</i> < 0.001, <i>t</i>=-5.736) and body mass index (BMI) (<i>p</i> = 0.020, <i>t</i>=-2.344) were significantly higher in patients with WMH compared to those without WMH. A two-state regression analysis demonstrated a linear relationship between increased AIP (OR:7.101, 95% CI:3.417-14.174), TG (OR: 1.016, 95% CI: 1.005-2.023) and WHM in patients with migraine.</p><p><strong>Conclusion: </strong>In our study, we found positive correlation between WMH and AIP values in patients with migraine, and showed that AIP values were a statistically significant discriminator of WMH. Our results suggest that the AIP can be used as a cost-effective and significant marker for determining WMH in patients with migraine.</p>","PeriodicalId":19131,"journal":{"name":"Neurological Research","volume":" ","pages":"1-9"},"PeriodicalIF":1.7,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144029722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of pain-related sodium channels <i>SCN9A</i> and <i>SCN10A</i> polymorphisms in migraine chronification.","authors":"Erhan Kilic, Ceyda Colakoglu- Bergel, Isil Ezgi Eryilmaz, Emel Oguz-Akarsu, Unal Egeli, Cigdem Sevda Erer-Ozbek, Deniz Sigirli, Rumeysa Fatma Balaban, Ebrucan Bulut, Gulsah Cecener, Mehmet Zarifoglu, Hamdi Necdet Karli","doi":"10.1080/01616412.2025.2497480","DOIUrl":"https://doi.org/10.1080/01616412.2025.2497480","url":null,"abstract":"<p><strong>Objective: </strong>Based on the frequency of attacks, migraine is classified into two subtypes: episodic (EM) and chronic (CM). Migraine progression from EM to CM is supposed to be affected by various factors, which is known as \"migraine chronification. However, the pathophysiology of migraine chronification is multifactorial and still not fully understood. Ion channels are hypothesized to play a role in migraine pathophysiology and are essential for generating and suppressing action potentials, which lie under the pain and related symptoms. Two sodium channel genes, <i>SCN9A</i> and <i>SCN10A</i>, have been reported to be associated with various pain sensitivities. Studies have shown that patients with EM and CM are more sensitive to chronic pain and that pain sensitivity may be a risk factor for chronification. Thus, the current study aimed to determine whether pain sensitivity-related <i>SCN9A</i> and <i>SCN10A</i> polymorphisms affect the EM-to-CM transition.</p><p><strong>Methods: </strong>For this purpose, genotyping was performed using TaqMan SNP Assay for the (i) <i>SCN9A</i> rs7595255, rs12622743, and rs11898284, (ii) <i>SCN10A</i> rs6795970, rs6801957 SNPs in Turkish EM and CM patients.</p><p><strong>Results: </strong>The results showed that <i>SCN9A</i> and <i>SCN10A</i> polymorphisms did not play a role in the development of chronicity. However, the results indicated that the <i>SCN10A</i> rs6795970 polymorphism was associated with osmophobia (<i>p</i> = 0.036).</p><p><strong>Conclusion: </strong><i>SCN10A</i> rs6795970 polymorphism may be necessary to predict the EM-to-CM transition and identify therapeutic targets. However, further studies are required to confirm the osmophobia association of the <i>SCN10A</i> rs6795970 polymorphism and to investigate the role of these SNPs in chronification.</p>","PeriodicalId":19131,"journal":{"name":"Neurological Research","volume":" ","pages":"1-12"},"PeriodicalIF":1.7,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143983244","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of thymoquinone on hippocampal spexin levels in cisplatin-induced rats.","authors":"Tuba Yalçin, Sercan Kaya","doi":"10.1080/01616412.2025.2504158","DOIUrl":"https://doi.org/10.1080/01616412.2025.2504158","url":null,"abstract":"<p><p>Neurotoxicity is a known side effect of the chemotherapeutic drug cisplatin (CIS). Thymoquinone (THQ) is a natural compound with strong neuroprotective, antioxidant, and anti-inflammatory effects. The objective of this study is to ascertain the impact of CIS on histopathological, biochemical, and spexin (SPX) immunoreactivity in the hippocampus, and to determine whether THQ has a protective role against these effects.Twenty-eight male Sprague - Dawley rats (8-10 weeks old,200 ± 20 g) were used in the study and randomly divided into four groups (<i>n</i> = 7): control (no administration), CIS (7 mg/kg on the first day), CIS+THQ (7 mg/kg CIS on the first day + 10 mg/kg/day THQ), and THQ (10 mg/kg/day THQ). On the 15th day, the rats were sacrificed. Hippocampus tissue samples were used for biochemical, histological, and immunohistochemical analyses. CISadministration significantly increased interleukin-6 (IL-6), malondialdehyde(MDA), histopathological changes, and SPX immunoreactivity in the hippocampus.THQ treatment was found to significantly reduce the adverse effects of.THQ treatment demonstrated neuroprotective effects againstCIS-induced damage in the hippocampus by modulating antioxidant activity, inflammatory response, and SPX immunoreactivity. We suggest that SPX, whose role and mechanism of action in cognitive, physiological, and pathological processes remains unclear, plays an active role in hippocampus-related functions. Further and more comprehensive studies on SPX are warranted.</p>","PeriodicalId":19131,"journal":{"name":"Neurological Research","volume":" ","pages":"1-9"},"PeriodicalIF":1.7,"publicationDate":"2025-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144012403","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of Alzheimer's disease susceptibility genes by the integration of genomics and transcriptomics.","authors":"Chenghong OuYang, Hanping Shi, Zhiying Lin","doi":"10.1080/01616412.2025.2499890","DOIUrl":"https://doi.org/10.1080/01616412.2025.2499890","url":null,"abstract":"<p><strong>Background: </strong>Alzheimer's disease (AD) is a progressive neurodegenerative disease. With the deepening of clinical and genomic research, a series of biomarkers and risk factors related to AD have been identified. However, the exact molecular mechanism of AD is not completely understood.</p><p><strong>Methods: </strong>By combining expression quantitative trait loci (eQTLs) analysis with the results of genome-wide association studies (GWAS), the candidate genes (CG) related to AD were screened out accurately. We identified that intersection genes of differentially expressed genes (DEGs) and CG are the key genes. Then, GO, KEGG, and GSEA were utilized for functional enrichment analysis. Finally, we predicted AD responses to immunotherapy by the single sample gene set enrichment analysis (ssGSEA).</p><p><strong>Results: </strong>A total of 253 DEGs were identified. The three key genes (VASP, SURF2, and TARBP1) were identified by taking the intersection of DEGs and CG. Through Mendelian randomization (MR) analysis, it was found that the risk of AD was significantly increased when VASP expression increased (OR = 0.1.046), while the risk of AD was significantly decreased when SURF2 (OR = 0.897) and TARBP1(OR = 0.920) expression increased. Subsequently, the functional analysis indicated that the core genes were mainly enriched in Leukocyte Transendothelial Migration, cGMP-PKG signaling pathway, and Rap1 signaling pathway. Through ssGSEA analysis showed that all three core genes were significantly related to M2 macrophages.</p><p><strong>Conclusions: </strong>Three core genes were screened by integrating eQTLs data, GWAS data and transfer group data, and the potential mechanism of diagnosis and treatment of AD was revealed.</p>","PeriodicalId":19131,"journal":{"name":"Neurological Research","volume":" ","pages":"1-13"},"PeriodicalIF":1.7,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037484","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}