Genetic testing and molecular biomarkers最新文献

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BDNF Val66Met Variant as a Genetic Risk Factor for Major Depressive Disorder in Saudis. BDNF Val66Met变异是沙特人重度抑郁症的遗传危险因素
IF 1.2 4区 生物学
Genetic testing and molecular biomarkers Pub Date : 2026-02-01 Epub Date: 2026-02-03 DOI: 10.1177/19450265261419292
Lenah S Binmahfouz, Muteb F Alkhaldi, Yasmeen A Qutub, Sara A Albeladi, Alzahraa A Alzahrani, Basma G Eid, Amina M Bagher
{"title":"BDNF Val66Met Variant as a Genetic Risk Factor for Major Depressive Disorder in Saudis.","authors":"Lenah S Binmahfouz, Muteb F Alkhaldi, Yasmeen A Qutub, Sara A Albeladi, Alzahraa A Alzahrani, Basma G Eid, Amina M Bagher","doi":"10.1177/19450265261419292","DOIUrl":"10.1177/19450265261419292","url":null,"abstract":"<p><strong>Objective: </strong>Major depressive disorder (MDD) is a prevalent and disabling psychiatric condition in Saudi Arabia, with genetic susceptibility remaining incompletely characterized. Reduced brain-derived neurotrophic factor (BDNF) activity has been implicated in MDD. The Val66Met polymorphism (rs6265), involving the substitution of valine (Val, G allele) with methionine (Met, A allele), impairs activity-dependent BDNF secretion. This study examined the frequency of Val66Met and its association with MDD in a Saudi cohort.</p><p><strong>Materials and methods: </strong>A case-control study was conducted, including 87 patients with MDD (44 males, 43 females; mean age 44.2 ± 11.5 years) and 87 healthy controls (39 males, 48 females; mean age 28.7 ± 8.4 years). Genotyping was performed using tetra-primer amplification refractory mutation system-polymerase chain reaction. Unadjusted and age- and sex-adjusted logistic regression analyses were applied under genotype-specific, dominant, recessive, and allelic models.</p><p><strong>Results: </strong>The Val/Val (GG) genotype was more frequent in controls than patients (54.0% vs. 34.5%), whereas the Met/Met (AA) genotype was detected exclusively in patients (21.8% vs. 0%; χ<sup>2</sup> = 22.80, <i>p</i> = 1.1 × 10<sup>-5</sup>). The Met (A) allele frequency was significantly higher in patients (43.7% vs. 23.0%; χ<sup>2</sup> = 15.84, <i>p</i> = 6.9 × 10<sup>-5</sup>). Unadjusted analysis showed a protective effect of GG (OR = 0.45, 95% CI: 0.24-0.82) and a markedly increased risk associated with AA (OR = 49.81, 95% CI: 2.95-839.90). Dominant carriers (GA + AA) had increased odds of MDD (OR = 2.23), and each A allele conferred a higher risk (OR = 2.60). These associations remained significant after adjustment for age and sex.</p><p><strong>Conclusion: </strong>The BDNF Val66Met polymorphism is associated with MDD susceptibility in Saudis. The Met (A) allele, particularly in homozygosity, confers increased risk, while the Val/Val genotype appears protective, supporting population-specific genetic contributions to depression.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"48-54"},"PeriodicalIF":1.2,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146104836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Hsa_circ_0009910/hsa-miR-145-5p/IFNB1 Axis Potential Role in the Immunopathogenesis of COVID-19 Disease. Hsa_circ_0009910/hsa-miR-145-5p/IFNB1轴在COVID-19疾病免疫发病机制中的潜在作用
IF 1 4区 生物学
Genetic testing and molecular biomarkers Pub Date : 2025-12-29 DOI: 10.1177/19450265251406027
Abbas Shahi, Zahra Firoozi, Elham Mohammadisoleimani, Ebrahim Mirzaei, Mehdi Sarvi, Farzaneh Darbeheshti, Jalal Karimi, Zahra Montaseri, Yaser Mansoori
{"title":"Hsa_circ_0009910/hsa-miR-145-5p/IFNB1 Axis Potential Role in the Immunopathogenesis of COVID-19 Disease.","authors":"Abbas Shahi, Zahra Firoozi, Elham Mohammadisoleimani, Ebrahim Mirzaei, Mehdi Sarvi, Farzaneh Darbeheshti, Jalal Karimi, Zahra Montaseri, Yaser Mansoori","doi":"10.1177/19450265251406027","DOIUrl":"https://doi.org/10.1177/19450265251406027","url":null,"abstract":"<p><p>Severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) causes a respiratory disorder responsible for the global pandemic and widespread mortality. Circular RNAs (circRNAs), one of the newest forms of noncoding RNAs (ncRNAs), are important regulators of the host immune response and viral replication through sponging of microRNAs (miRNAs). This work aims to look at the expression and functions of hsa_circ_0009910/hsa-miR-145-5p/IFN beta 1 (IFNB1) in SARS-CoV-2-related infection and the molecular mechanisms that underpin them. In the experimental phase of the study, total RNA was isolated from the peripheral blood mononuclear cells (PBMCs) of 48 patients with symptomatic COVID-19, 48 patients with nonsymptomatic COVID-19, and 48 negative controls, and then cDNA was synthesized. Next, the expression of these genes was examined with quantitative real-time PCR (qRT-PCR). A receiver operating characteristic (ROC) curve was created to assess each gene's potential as a biomarker. The interactions of hsa_circ_0009910, hsa-miR-145-5p, and IFNB1, also the functional and pathway enrichment analyses, were detected by bioinformatics analysis. When compared with the negative control group, the expression of hsa_circ_0009910 in both symptomatic and nonsymptomatic groups, and IFNB1 in the symptomatic group was higher in the COVID-19 patients. Furthermore, the relative expression of hsa-miR-145-5p in the symptomatic and nonsymptomatic groups was lower than that in the negative control group. In addition, there was a positive correlation between hsa_circ_0009910 and IFNB1 expression, as well as a negative correlation between hsa-miR-145-5p, hsa_circ_0009910, and IFNB1 expressions. hsa-miR-145-5p has a higher area under the curve and may be a more effective biomarker to distinguish COVID-19 patients from the healthy controls, based on ROC curve study, but further study is needed. In conclusion, our data show that the hsa_circ_0009910/hsa-miR-145-5p/IFNB1 triple network may play a role in the pathogenesis of COVID-19 and can be considered a therapeutic target in COVID-19 patients.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-12-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145862055","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of IL17A rs4711998 and IL1B rs16944 Polymorphism with Anti-Thyroid Peroxidase Serum Level in Autoimmune Thyroid Diseases: A Case-Control Study in Iranian Population. IL17A rs4711998和IL1B rs16944多态性与自身免疫性甲状腺疾病患者抗甲状腺过氧化物酶血清水平的关系:伊朗人群的病例对照研究
IF 1 4区 生物学
Genetic testing and molecular biomarkers Pub Date : 2025-12-23 DOI: 10.1177/19450265251406053
Aynaz Asgharvand-Hajeb, Alireza Hatami, Parvin Sarbakhsh, Sima Shahmohammadi Farid
{"title":"Association of IL17A rs4711998 and IL1B rs16944 Polymorphism with Anti-Thyroid Peroxidase Serum Level in Autoimmune Thyroid Diseases: A Case-Control Study in Iranian Population.","authors":"Aynaz Asgharvand-Hajeb, Alireza Hatami, Parvin Sarbakhsh, Sima Shahmohammadi Farid","doi":"10.1177/19450265251406053","DOIUrl":"https://doi.org/10.1177/19450265251406053","url":null,"abstract":"<p><p><b><i>Background:</i></b> Autoimmune thyroid diseases (AITDs), including Hashimoto's thyroiditis and Graves' disease, are characterized by aberrant immune responses influenced by both genetic predisposition and environmental triggers. Genetic association studies have identified several candidate loci that may contribute to the onset and progression of these conditions. The present study investigates the potential impact of specific genetic polymorphisms in interleukin genes (IL17A, IL1B, IL18) and CTLA-4 on thyroid peroxidase antibody (TPOAb) levels in individuals from northwest Iran. <b><i>Results:</i></b> A total of 82 individuals with elevated TPOAb levels and 82 antibody-negative controls were genotyped for single nucleotide polymorphisms using the tetra-primer amplification refractory mutation system polymerase chain reaction. The analysis revealed significant associations between specific genetic variants and TPOAb levels. Notably, the AG genotype of IL17A rs4711998 was associated with a protective effect, whereas the AA genotype of IL1B rs16944 was correlated with elevated antibody levels, suggesting a potential role in enhancing autoimmune responses. <b><i>Conclusions:</i></b> These findings underscore the contribution of genetic variations in interleukin genes to the pathogenesis of AITDs in the northwest Iranian population. Elucidating these associations may enhance our understanding of disease mechanisms and contribute to the development of targeted therapeutic strategies.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145862718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Novel Frameshift Variant in KIF11 Causes Autosomal Dominant Familial Exudative Vitreoretinopathy in a Chinese Family. 一种新的KIF11移码变异导致中国家族常染色体显性家族性渗出性玻璃体视网膜病。
IF 1 4区 生物学
Genetic testing and molecular biomarkers Pub Date : 2025-12-01 Epub Date: 2025-11-24 DOI: 10.1177/19450265251401002
Jianping Zhang, Yijia Zhao, Yueyuan Lan, Wenhui Liu, Pei Zhong, Binbin Wang
{"title":"A Novel Frameshift Variant in <i>KIF11</i> Causes Autosomal Dominant Familial Exudative Vitreoretinopathy in a Chinese Family.","authors":"Jianping Zhang, Yijia Zhao, Yueyuan Lan, Wenhui Liu, Pei Zhong, Binbin Wang","doi":"10.1177/19450265251401002","DOIUrl":"10.1177/19450265251401002","url":null,"abstract":"<p><p><b><i>Background:</i></b> Familial exudative vitreoretinopathy (FEVR) is a rare inherited ocular disorder characterized by abnormal peripheral retinal vascular development. <i>KIF11</i> variants are known to cause autosomal dominant FEVR, but novel pathogenic variants remain to be identified. <b><i>Objective:</i></b> This study aimed to identify a novel causative variant of FEVR and provide evidence for genetic counseling. <b><i>Methods:</i></b> Whole-exome sequencing was performed on members of a Chinese family with FEVR. Rare variants with a gnomAD allele frequency <0.1% in East Asian and general populations were prioritized. Sanger sequencing was used for validation, and bioinformatic analyses (including Combined Annotation Dependent Depletion [CADD] score and cross-species conservation analysis) were conducted to assess pathogenicity. <b><i>Results:</i></b> A novel heterozygous frameshift variant <i>KIF11</i> c.1239_1240del (p.V414Sfs*9) was identified in the proband, his brother, and his mother. This variant, absent from public databases (1000 Genomes, ExAC, gnomAD), had a CADD score of 26.9 and affected a highly conserved residue, suggesting disruptive effects on protein structure. The proband's mother showed macular involvement. <b><i>Conclusions:</i></b> The novel <i>KIF11</i> frameshift variant (c.1239_1240del p.V414Sfs*9) identified in a Chinese family expands the mutation spectrum of autosomal dominant FEVR, with macular involvement aiding clinical prognostic assessment.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"337-341"},"PeriodicalIF":1.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145668046","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
SET Domain Containing 7: A Tissue-Based Epigenetic Biomarker for Early Detection of Colorectal Cancer. SET结构域7:结直肠癌早期检测的基于组织的表观遗传生物标志物
IF 1 4区 生物学
Genetic testing and molecular biomarkers Pub Date : 2025-12-01 Epub Date: 2025-11-14 DOI: 10.1177/19450265251396051
Mohadeseh Gardashti, Parisa Mohamadynejad, Mehdi Moghanibashi, Leila Rouhi
{"title":"SET Domain Containing 7: A Tissue-Based Epigenetic Biomarker for Early Detection of Colorectal Cancer.","authors":"Mohadeseh Gardashti, Parisa Mohamadynejad, Mehdi Moghanibashi, Leila Rouhi","doi":"10.1177/19450265251396051","DOIUrl":"10.1177/19450265251396051","url":null,"abstract":"<p><p><b><i>Background:</i></b> Methyltransferase proteins, including SET Domain Containing 7 (<i>SETD7</i>), play an important role in the initiation of carcinogenesis through epigenetic mechanisms. Due to the reduced chance of survival in colorectal cancer (CRC), it is necessary to find molecular methods to detect CRC in the early stages. This study aimed to investigate the expression of <i>SETD7</i> in metastatic and nonmetastatic tumor tissues in CRC compared with healthy tissue in order to evaluate its potential as a biomarker for the diagnosis of CRC in the early stages. <b><i>Methods:</i></b> In this study, the expression level of the <i>SETD7</i> gene in primary colon adenocarcinoma was analyzed using the UALCAN database. To confirm the bioinformatics data, <i>SETD7</i> gene expression was investigated in 80 colorectal tumor tissues (metastatic and nonmetastatic) and adjacent normal tissues using RT-qPCR. <b><i>Results:</i></b> According to the results obtained from the UALCAN database, <i>SETD7</i> expression is significantly increased in tumor tissues compared with normal tissues, which was confirmed by the RT-qPCR results. We showed that although the <i>SETD7</i> expression level in colorectal tumor tissues was higher than in adjacent normal tissues (<i>p</i> = 0.0001), this increase was only statistically significant in nonmetastatic tumor tissues (<i>p</i> = 0.0001). Based on receiver operating characteristic (ROC) analysis, increased <i>SETD7</i> gene expression can be used as a good biomarker to distinguish tumor tissue from normal tissue in the early stages (area under the ROC curve = 0.85). <b><i>Conclusion:</i></b> Increased <i>SETD7</i> gene expression can be used as an epigenetic marker in tissue-based prognosis and screening of CRC in the early tumor stages.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"330-336"},"PeriodicalIF":1.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145563787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Insights into the Regulatory Roles of lncRNAs and circRNAs in Intervertebral Disk Degeneration: A Review. lncrna和circrna在椎间盘退变中的调控作用:综述
IF 1 4区 生物学
Genetic testing and molecular biomarkers Pub Date : 2025-12-01 Epub Date: 2025-11-27 DOI: 10.1177/19450265251400989
Mahshid Malakootian, Masoumeh Jalilian, Akram Gholipour, Maziar Oveisee
{"title":"Insights into the Regulatory Roles of lncRNAs and circRNAs in Intervertebral Disk Degeneration: A Review.","authors":"Mahshid Malakootian, Masoumeh Jalilian, Akram Gholipour, Maziar Oveisee","doi":"10.1177/19450265251400989","DOIUrl":"10.1177/19450265251400989","url":null,"abstract":"<p><p>Noncoding RNAs (ncRNAs) comprise a significant portion of the transcriptome and contribute to various cellular and molecular processes and disease development. Although many functional roles for ncRNAs have been discovered, the regulatory functions of many require further elucidation. Intervertebral disk degeneration (IDD) is a leading cause of lower back pain and represents a major social and financial challenge worldwide. This review summarizes the literature on long ncRNAs and circular RNAs as novel regulators in IDD development. IDD diminishes quality of life, underscoring the importance of research on its pathogenesis and the identification of novel therapeutic targets. The definitive cellular and molecular mechanisms underlying IDD pathogenesis remain unidentified, and no effective treatment is available. Both genetic and environmental or lifestyle factors are associated with IDD development. Therefore, understanding the exact molecular mechanisms of IDD could yield novel therapeutic targets.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"317-329"},"PeriodicalIF":1.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145668018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Expanding the Phenotypic and Genotypic Spectrum of Postaxial Polydactyly: A Study of Four Consanguineous Pakistani Families. 扩展轴后多指畸形的表型和基因型谱:巴基斯坦四个近亲家庭的研究。
IF 1 4区 生物学
Genetic testing and molecular biomarkers Pub Date : 2025-12-01 DOI: 10.1177/19450265251401006
Tayyaba Saeed, Bushra Khan, Muhammad Haris Khan, Zahid Azeem, Fozia Fozia, Sajid Ali, Maryam Rahmat, Saadullah Khan, Nousheen Bibi, Umm- E-Kalsoom
{"title":"Expanding the Phenotypic and Genotypic Spectrum of Postaxial Polydactyly: A Study of Four Consanguineous Pakistani Families.","authors":"Tayyaba Saeed, Bushra Khan, Muhammad Haris Khan, Zahid Azeem, Fozia Fozia, Sajid Ali, Maryam Rahmat, Saadullah Khan, Nousheen Bibi, Umm- E-Kalsoom","doi":"10.1177/19450265251401006","DOIUrl":"https://doi.org/10.1177/19450265251401006","url":null,"abstract":"<p><p><b><i>Background:</i></b> Postaxial polydactyly (PAP) is characterized by the development of extra digits at the fifth finger. It can occur as an isolated disease or a part of a syndrome. The genetic basis of nonsyndromic PAP has been linked to sequence variants in different genes. The aim of the present study was to identify the causative genetic variants in four Pakistani families demonstrating PAP. <b><i>Methods:</i></b> Causative genetic variants were identified using whole-exome sequencing and microsatellite mapping, followed by validation through Sanger sequencing. Further analysis was carried out through conservation, structural modeling, and 100-ns molecular dynamic simulations of GLI1. <b><i>Results:</i></b> Whole-exome and targeted sequencing in four families (A, B, C, and D) identified novel variants in the <i>GLI1</i> (c.1013G>T; p.Cys338Phe), and <i>GLI3</i> (c.2003C>T; p.Pro668Leu and c.4564delG; p.Ala1522ProfsTer2), and a recurrent variant in <i>IQCE</i> genes (c.895_904del; p.Val301SerfsTer8) linked to 7p22.3. All the variants were highly conserved across different species. Comparative analysis of the GLI1<sup>WT</sup> and GLI1<sup>Cys338Phe</sup> proteins revealed domain fluctuations leading to the loss of structurally and functionally important inter- and intramolecular interactions. The three-dimensional structural analysis of the GLI3 protein showed that the missense variant p. (Pro668Leu) disturbed the protein folding and intra-residue interaction, while the frameshift variant p. (Ala1522ProfsTer2) led to the loss of the C-terminus of the protein. Similarly, the IQCE structural analysis confirmed the loss of protein function due to frameshift and C-terminal deletion. <b><i>Conclusion:</i></b> This study has broadened the phenotypic and allelic spectrum of the genes associated with isolated PAP and strengthened the role of these genes in regulating limb development.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145668032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Corrigendum to: Germline Multigene Panel Testing in Japanese Patients with Pheochromocytoma and Paraganglioma: Technical Feasibility and Clinical Utility. 更正:日本嗜铬细胞瘤和副神经节瘤患者的生殖系多基因面板检测:技术可行性和临床应用。
IF 1 4区 生物学
Genetic testing and molecular biomarkers Pub Date : 2025-12-01 DOI: 10.1177/19450265251399124
{"title":"<i>Corrigendum to:</i> Germline Multigene Panel Testing in Japanese Patients with Pheochromocytoma and Paraganglioma: Technical Feasibility and Clinical Utility.","authors":"","doi":"10.1177/19450265251399124","DOIUrl":"https://doi.org/10.1177/19450265251399124","url":null,"abstract":"","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":"29 12","pages":"342"},"PeriodicalIF":1.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145714159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Single Nucleotide Polymorphisms within the microRNA Binding Site of SET8 Modify Ankylosing Spondylitis Risk. SET8 microRNA结合位点内的单核苷酸多态性改变强直性脊柱炎风险。
IF 1 4区 生物学
Genetic testing and molecular biomarkers Pub Date : 2025-11-01 Epub Date: 2025-11-12 DOI: 10.1177/19450265251395953
Shasha Zhang, Yufei Zhao, Song Wang, Ziyue Sha, Xiaoyun Zhang, Chenxing Peng, Jingjing Zhang
{"title":"Single Nucleotide Polymorphisms within the microRNA Binding Site of SET8 Modify Ankylosing Spondylitis Risk.","authors":"Shasha Zhang, Yufei Zhao, Song Wang, Ziyue Sha, Xiaoyun Zhang, Chenxing Peng, Jingjing Zhang","doi":"10.1177/19450265251395953","DOIUrl":"10.1177/19450265251395953","url":null,"abstract":"<p><p><b><i>Objectives:</i></b> Genetic polymorphisms in microRNA binding sites (mir-SNPs) may affect rheumatic diseases risk. We genotyped two mir-SNPs in the 3' UTR of <i>SET8</i> (rs16917496) and <i>KRT81</i> (rs3660) in ankylosing spondylitis (AS) patients to assess their association with AS risk. <b><i>Methods:</i></b> DNAs were extracted from blood samples for polymerase chain reaction analysis. Western blot was used to detect protein expression. Plasma reactive oxygen species (ROS) levels were measured by fluorescent probe technology. <b><i>Results:</i></b> We found that <i>SET8</i> CC genotype had an increased chance of developing AS than the TT + CT genotype carrier (odds ratio, 5.378; 95% confidence interval, 1.130-25.593; <i>p</i> = 0.019). Moreover, the <i>SET8</i> CC genotype displayed a lower expression of SET8 than the TT genotype. Additionally, increased ROS generation in AS patients was observed compared with controls (23859.055 ± 12283.038 vs. 14758.330 ± 5854.946, <i>p</i> < 0.001). Furthermore, the AS-susceptible CC genotype was associated with high ROS levels (35062.000 ± 17748.785 vs. 22629.463 ± 11002.181, <i>p</i> = 0.033). <b><i>Conclusion:</i></b> Our study revealed that the SNP rs16917496 located in the miR-502 binding site in the 3' UTR of <i>SET8</i> could be used as a biomarker to predict AS risk. Importantly, SNP rs16917496 could participate in the pathogenesis of AS by regulating the expression of SET8, thereby promoting oxidative stress levels.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"304-309"},"PeriodicalIF":1.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145502839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Cerebrospinal Fluid Human Neutrophil Peptides 1-3: A Potential Prognostic Marker in Intracerebral Hemorrhage. 脑脊液人中性粒细胞肽1-3:脑出血的潜在预后标志物。
IF 1 4区 生物学
Genetic testing and molecular biomarkers Pub Date : 2025-11-01 Epub Date: 2025-11-12 DOI: 10.1177/19450265251395955
Zhi He, Jun Xie, Fu-Ling Yan, Lei-Yu Geng, Yue-Xin Zhang, Jing-Jing Liu, Chen Zhang
{"title":"Cerebrospinal Fluid Human Neutrophil Peptides 1-3: A Potential Prognostic Marker in Intracerebral Hemorrhage.","authors":"Zhi He, Jun Xie, Fu-Ling Yan, Lei-Yu Geng, Yue-Xin Zhang, Jing-Jing Liu, Chen Zhang","doi":"10.1177/19450265251395955","DOIUrl":"10.1177/19450265251395955","url":null,"abstract":"<p><p><b><i>Background:</i></b> This study aims to investigate whether elevated human neutrophil peptides 1-3 (HNP 1-3) levels in cerebrospinal fluid (CSF) are associated with disease severity and clinical outcomes in patients with intracerebral hemorrhage (ICH). <b><i>Materials and Methods:</i></b> HNP 1-3 levels were measured in CSF samples collected within 3 days after hemorrhage onset in ICH patients and control subjects. <b><i>Results:</i></b> HNP 1-3 levels were significantly higher in ICH patients with moderate-severe coma and hematoma volume >30 mL group. Univariate and multivariate logistic regression analyses demonstrated that CSF HNP 1-3 levels were associated with unfavorable outcomes. Receiver operating characteristic analysis revealed that CSF HNP 1-3 concentrations >466.95 ng/mL could distinguish ICH patients at risk for an unfavorable prognosis. <b><i>Conclusions:</i></b> HNP 1-3 exhibit satisfactory diagnostic efficiency for predicting the prognosis of ICH patients.</p>","PeriodicalId":12603,"journal":{"name":"Genetic testing and molecular biomarkers","volume":" ","pages":"310-315"},"PeriodicalIF":1.0,"publicationDate":"2025-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145502865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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