BMC Medical Genomics最新文献

{"title":"Construction of an immunogenic cell death-related LncRNA signature to predict the prognosis of patients with lung adenocarcinoma.","authors":"Shuaishuai Wang, Yi Zhang","doi":"10.1186/s12920-024-02042-y","DOIUrl":"10.1186/s12920-024-02042-y","url":null,"abstract":"<p><strong>Background: </strong>Lung adenocarcinoma (LUAD) is one of the most common malignant diseases worldwide. This study aimed to construct an immunogenic cell death (ICD)-related long non-coding RNA (lncRNA) signature to effectively predict the prognosis of LUAD.</p><p><strong>Methods: </strong>The RNA-sequencing and clinical data of LUAD were downloaded from The Cancer Genome Atlas (TCGA). Least absolute shrinkage and selection operator (LASSO) and stepwise multivariate Cox proportional hazard regression analysis were utilized to construct lncRNA signature. Then, the reliability of the signature was evaluated in the training, validation and whole cohorts. The differences in the immune landscape and drug sensitivity between the low- and high-risk groups were analyzed. Finally, the expression level of the selected ICD-related lncRNAs in LUAD cell lines via reverse transcription quantitative PCR (RT-qPCR). CCK-8 and transwell assays were performed to study biological function of AC245014.3.</p><p><strong>Results: </strong>A signature consisting of 5 ICD-related lncRNAs was constructed. Kaplan Meier (K-M) survival analysis showed shorter overall survival (OS) in high-risk group. The receiver operating characteristic (ROC) curves and Multivariate Cox regression analysis showed the signature was good predictive and independent prognostic factor in LUAD. Moreover, the high-risk group had a lower level of antitumor immunity and was less sensitive to some chemotherapeutics and targeted drugs. Finally, the expression level of selected ICD-related lncRNAs was validated in LUAD cell lines by RT-qPCR. Knockdown of AC245014.3 significantly suppressed LUAD proliferation, migration and invasion.</p><p><strong>Conclusions: </strong>In this study, an ICD-related lncRNA signature was constructed, which could accurately predict the prognosis of LUAD patients and guide clinical treatment.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"17 1","pages":"277"},"PeriodicalIF":2.1,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11600735/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142738290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Protein-losing enteropathy with congenital kidney stones in a 2-month-old boy: a rare case report and literature review.","authors":"Jiahui Fang, Zhuoheng Li, Lin Zhang, Qiaojian Liu, Jie Mao, Jintao Duan","doi":"10.1186/s12920-024-02046-8","DOIUrl":"10.1186/s12920-024-02046-8","url":null,"abstract":"<p><strong>Background: </strong>Protein-losing enteropathy (PLE) is a rare condition featured by severe loss of proteins through the gastrointestinal tract. Rare PLE cases complicated with congenital kidney stones have been reported. This case study aimed to illustrate our experiences on the diagnosis and treatment of PLE and congenital kidney stones in a neonate.</p><p><strong>Case presentation: </strong>A 10-day-old boy fed on breast milk presented to our department because of severe diarrhea, which showed no significant attenuation after free amino acid milk formula. Gastrointestinal endoscopy revealed absence of brush border of surface villi. Genetic testing was strongly recommended given intractable early-onset diarrhea, severe malnutrition and hypoalbuminemia. Then the patient was diagnosed with PLE based on the clinical manifestations and identification of DGAT1 gene by whole-exome sequencing. The patient underwent percutaneous suprapubic cystostomy to remove the urine, and ultrasonography examination showed kidney stones.</p><p><strong>Conclusions: </strong>We reported a rare newborn with PLE and congenital kidney stones carrying DGAT1 mutations.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"17 1","pages":"278"},"PeriodicalIF":2.1,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11600831/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142738291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Concomitant telomere attrition is associated with spinal muscular atrophy in highly inbred region of North India: unraveling the thread in Kashmir region.","authors":"Rukhsana Hassan, Gh Rasool Bhat, Feroze Ahmad Mir, Hilal Ahmad Ganie, Ifra Mushtaq, Mushtaq Ahmad Bhat, Ravouf Parvez Asimi, Dil Afroze","doi":"10.1186/s12920-024-01980-x","DOIUrl":"10.1186/s12920-024-01980-x","url":null,"abstract":"<p><p>Spinal muscular atrophy (SMA) is a rare genetic disorder that unequivocally results in the degeneration of motor neurons, leading to muscle weakness and atrophy. This condition is caused by a mutation in the survival motor neuron 1 (SMN1) gene, which inevitably results in a deficiency of the SMN protein. In present study, we investigated the potential role of telomere attrition in SMA patients. Relative telomere length in peripheral blood lymphocytes was measured by Monochrome Multiplex Quantitative Polymerase Chain Reaction (MMQPCR) in 98 subjects and we conclusively found that SMA cases exhibit telomere attrition compared to healthy controls (P = 4 × 10^- 2). Moreover, significant attrition was also observed in severe form of SMA, i.e. SMA type 0 (P = 0.04) as well.Although, the exact mechanism through which telomere shortening contributes to the pathogenesis of SMA is not fully understood and is yet to be delineated. However, one possibility is that telomere shortening leads to genomic instability and DNA damage, which can contribute to motor neuron degeneration. Another possibility is that telomere shortening leads to cellular senescence, which can impair the ability of motor neurons to regenerate and repair themselves. Recent studies have suggested that telomere shortening may be a potential therapeutic target in SMA. Thus, understanding the role of SMN1 gene in disease pathogenesis & its effect on telomere length will aid in estimating the risk & prognosis of SMA in genetically less explored & highly inbred region of Kashmir, Northern India.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"17 1","pages":"275"},"PeriodicalIF":2.1,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587541/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715272","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of a clinical metagenomics workflow for the diagnosis of wound infections.","authors":"Carl Halford, Thanh Le Viet, Katie Edge, Paul Russell, Nathan Moore, Fiona Trim, Lluis Moragues-Solanas, Roman Lukaszewski, Simon A Weller, Matthew Gilmour","doi":"10.1186/s12920-024-02044-w","DOIUrl":"10.1186/s12920-024-02044-w","url":null,"abstract":"<p><strong>Background: </strong>Wound infections are a common complication of injuries negatively impacting the patient's recovery, causing tissue damage, delaying wound healing, and possibly leading to the spread of the infection beyond the wound site. The current gold-standard diagnostic methods based on microbiological testing are not optimal for use in austere medical treatment facilities due to the need for large equipment and the turnaround time. Clinical metagenomics (CMg) has the potential to provide an alternative to current diagnostic tests enabling rapid, untargeted identification of the causative pathogen and the provision of additional clinically relevant information using equipment with a reduced logistical and operative burden.</p><p><strong>Methods: </strong>This study presents the development and demonstration of a CMg workflow for wound swab samples. This workflow was applied to samples prospectively collected from patients with a suspected wound infection and the results were compared to routine microbiology and real-time quantitative polymerase chain reaction (qPCR).</p><p><strong>Results: </strong>Wound swab samples were prepared for nanopore-based DNA sequencing in approximately 4 h and achieved sensitivity and specificity values of 83.82% and 66.64% respectively, when compared to routine microbiology testing and species-specific qPCR. CMg also enabled the provision of additional information including the identification of fungal species, anaerobic bacteria, antimicrobial resistance (AMR) genes and microbial species diversity.</p><p><strong>Conclusions: </strong>This study demonstrates that CMg has the potential to provide an alternative diagnostic method for wound infections suitable for use in austere medical treatment facilities. Future optimisation should focus on increased method automation and an improved understanding of the interpretation of CMg outputs, including robust reporting thresholds to confirm the presence of pathogen species and AMR gene identifications.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"17 1","pages":"276"},"PeriodicalIF":2.1,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11587571/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genomic profiling and expanded use of targeted anticancer drugs in solid cancers with exhausted evidence-based treatment options (PRECODE): study protocol of a prospective, non-randomized, cohort study.","authors":"Karin Holmskov Hansen, Maria Bibi Lyng, Annette Raskov Kodahl, Jon Thor Asmussen, Arman Arshad, Henrik Petersen, Lotte Krogh, Sidse Ehmsen, Thomas Kielsgaard Kristensen, Henrik J Ditzel","doi":"10.1186/s12920-024-02033-z","DOIUrl":"10.1186/s12920-024-02033-z","url":null,"abstract":"<p><strong>Background: </strong>Genomic profiling of advanced solid cancer in patients with no further evidence based standard treatment options is a novel approach to identify potential experimental treatment options based on specific genomic alterations. Due to the expected short survival of these patients timely assessment of potential druggable targets is critical to minimize the risk of deterioration during the analysis. The primary objective of this prospective study is to evaluate the turnaround time for genomic profiling and the clinical investigational procedures. The secondary objectives are to investigate how often genomic alterations in tumor tissue gives rise to a matched treatment offer and evaluate the clinical outcome.</p><p><strong>Methods: </strong>The PRECODE study is a prospective, non-randomized, single-center cohort study conducted at Departments of Oncology and Pathology, Odense University Hospital, Denmark. Enrollment between March 1, 2019 and December 31, 2024. Eligibility criteria are age ≥ 18 years, written informed consent, advanced solid tumors, exhausted treatment options, ECOG performance status 0-2, adequate organ function and life expectancy ≥ 3 months. A core needle biopsy is analyzed by next generation sequencing using a pan-cancer comprehensive panel. Results are discussed weekly at institutional/local and national multidisciplinary tumor boards.</p><p><strong>Discussion: </strong>Strategies and methods for genomic profiling of advanced solid cancers differ. Rapid analysis and interpretation of sequencing data are key to avoiding delays in initiation potential experimental treatments, as these late-stage patients may quickly deteriorate. Although a highly optimized setup with fast-track clinical evaluation and genomic profiling has been established a subset will not be offered a targeted treatment due to deterioration. Local and national multidisciplinary teams have been established to optimize individualized treatment decisions. After genomic profiling a subset of patients will take part in clinical trials, which will constrain the reporting of overall survival or progression free survival.</p><p><strong>Trial registration: </strong>Danish Ethics Committee, Projekt-ID: S-2018014, date of approval: 27- FEB- 2019) Danish Data Protection Agency (Journal no: 18/58329, date of approval: 23-NOV-2018).</p><p><strong>Clinicaltrials: </strong>gov Identifier: NCT05385081 (retrospectively registered).</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"17 1","pages":"274"},"PeriodicalIF":2.1,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11583735/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142685856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Private detection of relatives in forensic genomics using homomorphic encryption.","authors":"Fillipe D M de Souza, Hubert de Lassus, Ro Cammarota","doi":"10.1186/s12920-024-02037-9","DOIUrl":"10.1186/s12920-024-02037-9","url":null,"abstract":"<p><strong>Background: </strong>Forensic analysis heavily relies on DNA analysis techniques, notably autosomal Single Nucleotide Polymorphisms (SNPs), to expedite the identification of unknown suspects through genomic database searches. However, the uniqueness of an individual's genome sequence designates it as Personal Identifiable Information (PII), subjecting it to stringent privacy regulations that can impede data access and analysis, as well as restrict the parties allowed to handle the data. Homomorphic Encryption (HE) emerges as a promising solution, enabling the execution of complex functions on encrypted data without the need for decryption. HE not only permits the processing of PII as soon as it is collected and encrypted, such as at a crime scene, but also expands the potential for data processing by multiple entities and artificial intelligence services.</p><p><strong>Methods: </strong>This study introduces HE-based privacy-preserving methods for SNP DNA analysis, offering a means to compute kinship scores for a set of genome queries while meticulously preserving data privacy. We present three distinct approaches, including one unsupervised and two supervised methods, all of which demonstrated exceptional performance in the iDASH 2023 Track 1 competition.</p><p><strong>Results: </strong>Our HE-based methods can rapidly predict 400 kinship scores from an encrypted database containing 2000 entries within seconds, capitalizing on advanced technologies like Intel AVX vector extensions, Intel HEXL, and Microsoft SEAL HE libraries. Crucially, all three methods achieve remarkable accuracy levels (ranging from 96% to 100%), as evaluated by the auROC score metric, while maintaining robust 128-bit security. These findings underscore the transformative potential of HE in both safeguarding genomic data privacy and streamlining precise DNA analysis.</p><p><strong>Conclusions: </strong>Results demonstrate that HE-based solutions can be computationally practical to protect genomic privacy during screening of candidate matches for further genealogy analysis in Forensic Genetic Genealogy (FGG).</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"17 1","pages":"273"},"PeriodicalIF":2.1,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11575431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142674950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genome-wide association analysis of cystatin c and creatinine kidney function in Chinese women.","authors":"Yang Cai, Hongyao Lv, Meng Yuan, Jiao Wang, Wenhui Wu, Xiaoyu Fang, Changying Chen, Jialing Mu, Fangyuan Liu, Xincheng Gu, Hankun Xie, Yu Liu, Haifeng Xu, Yao Fan, Chong Shen, Xiangyu Ma","doi":"10.1186/s12920-024-02048-6","DOIUrl":"10.1186/s12920-024-02048-6","url":null,"abstract":"<p><strong>Background: </strong>With increasing incidence and treatment costs, chronic kidney disease (CKD) has become an important public health problem in China, especially in females. However, the genetic determinants are very limited. The estimated glomerular filtration rate (eGFR) based on creatinine is commonly used as a measure of renal function but can be easily affected by other factors. In contrast, eGFR based on both creatinine and cystatin C (eGFRcr-cys) improved the diagnostic accuracy of CKD. To our knowledge, no genome-wide association analysis of eGFRcr-cys has been conducted in the Chinese population.</p><p><strong>Methods: </strong>By conducting a Genome-Wide association study(GWAS), a method used to identify associations between genetic regions (genomes) and traits/diseases, we examined the relationship between genetic factors and eGFRcr-cys in Chinese women, with 1983 participants and 3,838,121 variants included in the final analysis.</p><p><strong>Result: </strong>One significant locus (20p11.21) was identified in the Chinese female population, which has been reported to be associated with eGFR based on cystatin C (eGFRcys) in the European population. More importantly, we found two new suggestive loci (1p31.1 and 11q24.2), which have not yet been reported. A total of three single nucleotide polymorphisms were identified as the most important variants in these regions, including rs2405367 (CST3), rs66588571(KRT8P21), and rs626995 (OR8B2).</p><p><strong>Conclusion: </strong>We identified 3 loci 20p11.21, 1p31.1, and 11q24.2 to be significantly associated with eGFRcr-cys. These findings and subsequent functional analysis describe new biological clues related to renal function in Chinese women and provide new ideas for the diagnosis and treatment development of CKD.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"17 1","pages":"272"},"PeriodicalIF":2.1,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11575226/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142667313","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Elevated expression of APOO as a potential prognostic marker in breast cancer: insights from bioinformatic analysis and experimental validation.","authors":"Yang Bai, Qian Tang, Liang Zheng, Jun He, Wenjian Wang, Liqi Li, Ju Yu","doi":"10.1186/s12920-024-02047-7","DOIUrl":"10.1186/s12920-024-02047-7","url":null,"abstract":"<p><strong>Objective: </strong>Apolipoprotein O (APOO) has been identified through bioinformatic prediction analysis as being highly expressed in various tumors, including breast cancer (BRCA). However, further investigations are required to understand and confirm APOO's biological role in BRCA.</p><p><strong>Methods: </strong>Bioinformatic analyses were employed to identify genes' expression statuses and their relationship with the prognoses of patients. The genes' functions were determined in cell line by gain or loss of function assays. Mechanistic studies were carried out by western blot.</p><p><strong>Results: </strong>Our study reveals a correlation between increased APOO expression and poorer clinical outcomes in BRCA patients. The diagnostic value of APOO was demonstrated by Receiver Operating Characteristic (ROC) curve analysis, showing a notable area under the curve (AUC) of 0.937. Additionally, we observed that APOO knockdown impedes cell proliferation and migration. Gene Set Enrichment Analysis (GSEA) suggests that APOO expression is associated with the regulation of apoptosis and autophagy signaling pathways. Experimentally, modifying APOO expression in vitro influenced apoptosis and autophagy in BRCA cells. In conclusion, our findings indicate a significant link between APOO expression and BRCA progression, mediated through APOO's impact on cellular apoptosis and autophagy.</p><p><strong>Conclusions: </strong>Our data show that APOO controls BRCA process through apoptosis and autophagy signal pathway, which might provide multiple promising choices for the treatment of BRCA.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"17 1","pages":"271"},"PeriodicalIF":2.1,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11572147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142667307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hearing impairment and vestibular function in patients with a pathogenic splice variant in the LHX3 gene.","authors":"Åsa Kjellgren, Elenor Lundgren, Irina Golovleva, Berit Kriström, Mimmi Werner","doi":"10.1186/s12920-024-02049-5","DOIUrl":"10.1186/s12920-024-02049-5","url":null,"abstract":"<p><strong>Background: </strong>LHX3 is a gene encoding a LIM-homeodomain transcription factor important for the fetal development of several organs, such as the pituitary gland, spinal motor neurons and the inner ear. Pathogenic and likely pathogenic variants in the LHX3 gene are infrequent and result in a rare syndrome known as combined pituitary hormone deficiency-3, CPHD3.</p><p><strong>Methods: </strong>We have studied hearing and vestibular functions in a group of eight individuals, aged 8-36 years, all of whom were homozygous for a specific variant in the LHX3 gene at chromosome 9q34. We reexamined the results of consecutive hearing tests from newborn until April 2024.</p><p><strong>Results: </strong>Our data showed that all the tested patients had progressive sensorineural hearing deficiency ranging from moderately severe to complete loss. We have performed vestibular testing in six patients and, for the first time, demonstrated that a mutation in the LHX3 gene not only affects hearing, but is also associated with vestibular impairment.</p><p><strong>Conclusion: </strong>The human pathogenic variant c.455-2A > G in the LHX3 gene on chromosome 9q34, which present as a founder mutation in the population in northern Sweden, is responsible for phenotypes associated with progressive hearing loss and balance impairment. These findings prove that the LHX3 gene is crucial for the function of both the cochlear and vestibular organs.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"17 1","pages":"270"},"PeriodicalIF":2.1,"publicationDate":"2024-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11568590/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142643351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between miR-30 polymorphism and ischemic stroke in Chinese population.","authors":"Yan-Ping Luo, Xi-Xi Gu, Chao Liu, Ying Huang, Li-Jiang Lu, Shu-Yu Zhang, Yu-Lin Yuan","doi":"10.1186/s12920-024-02041-z","DOIUrl":"10.1186/s12920-024-02041-z","url":null,"abstract":"<p><strong>Background: </strong>Ischemic stroke (IS) is a commonly seen cerebrovascular disease which seriously endangers the health of middle age and old people. However, its etiology and pathogenesis have not yet fully comprehended. miR-30 gene is a novel gene which may be involved in IS. However, no studies have investigated the relationship between IS and the single-nucleotide polymorphisms (SNPs) of miR-30. Therefore, this study examined the relationship between miR-30 polymorphisms (rs2222722, rs1192037, rs10095483 and rs16827546) and the risk of IS.</p><p><strong>Methods: </strong>Totally 248 IS patients and 230 age-, sex- and race-matched controls were involved in this study. Based on SNPscan technique, four polymorphisms (rs2222722, rs1192037, rs10095483 and rs16827546) were genotyped.</p><p><strong>Results: </strong>There exists a significant association between rs2222722 polymorphism and the risk of IS according to analyses of genotypes, models and alleles (GA vs. GG: adjusted OR = 1.616, 95% CI: 0.943-2.768, P = 0. 081); (AA vs. GG: adjusted OR = 2.447, 95% CI: 1.233-4.858, P = 0.011); dominant model: adjusted (OR = 1.806, 95% CI, 1.082-3.016, P = 0.024); (G vs. A: adjusted OR = 1.492, 95% CI: 1.148-1.939, P = 0.003). Besides, miR-30a expression was significantly higher in patients undergoing IS relative to that in controls (P < 0.05).</p><p><strong>Conclusions: </strong>To conclude, the rs2222722 polymorphism of the miR-30 gene shows a significant relationship to elevate the risk of IS in Chinese population.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"17 1","pages":"269"},"PeriodicalIF":2.1,"publicationDate":"2024-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11562358/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142613781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}