Immunogenetics最新文献

Syndecan-1: a key player in health and disease.

IF 2.9 4区医学

Immunogenetics Pub Date : 2024-12-17 DOI: 10.1007/s00251-024-01366-4

Lara Diab, Sahar Al Kattar, Naim Oueini, Jihad Hawi, Antoine Chrabieh, Laura Dosh, Rosalyn Jurjus, Angelo Leone, Abdo Jurjus

{"title":"Syndecan-1: a key player in health and disease.","authors":"Lara Diab, Sahar Al Kattar, Naim Oueini, Jihad Hawi, Antoine Chrabieh, Laura Dosh, Rosalyn Jurjus, Angelo Leone, Abdo Jurjus","doi":"10.1007/s00251-024-01366-4","DOIUrl":"10.1007/s00251-024-01366-4","url":null,"abstract":"Syndecan-1 (SDC-1) is a transmembrane protein localized on the basolateral surface of epithelial cells, encompassing a core protein with heparin sulfate and chondroitin sulfate glycosaminoglycan side chains. SDC-1 is involved in a panoply of cellular mechanisms including cell-to-cell adhesion, extracellular matrix interactions, cell cycle modulation, and lipid clearance. Alterations in the expression and function of SDC-1 are implicated in numerous disease entities, making it an attractive diagnostic and therapeutic target. However, despite its broad involvement in several disease processes, the underlying mechanism contributing to its diverse functions, pathogenesis, and therapeutic uses remains underexplored. Therefore, this review examines the role of SDC-1 in health and disease, focusing on liver pathologies, inflammatory diseases, infectious diseases, and cancer, and sheds light on SDC-1-based therapeutic approaches. Moreover, it delves into the mechanisms through which SDC-1 contributes to these diseases, emphasizing cell-type specific mechanisms. By comprehensively summarizing the significance of SDC-1, its association with several diseases, and its underlying mechanisms of action, the findings of this review could inform future research directions toward the development of targeted therapies and early diagnosis for a multitude of disease entities.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"77 1","pages":"9"},"PeriodicalIF":2.9,"publicationDate":"2024-12-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142835493","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}

引用次数: 0

VaxOptiML: leveraging machine learning for accurate prediction of MHC-I and II epitopes for optimized cancer immunotherapy.

IF 2.9 4区医学

Immunogenetics Pub Date : 2024-12-07 DOI: 10.1007/s00251-024-01361-9

Dhanushkumar T, Sunila B G, Sripad Rama Hebbar, Prasanna Kumar Selvam, Karthick Vasudevan

{"title":"VaxOptiML: leveraging machine learning for accurate prediction of MHC-I and II epitopes for optimized cancer immunotherapy.","authors":"Dhanushkumar T, Sunila B G, Sripad Rama Hebbar, Prasanna Kumar Selvam, Karthick Vasudevan","doi":"10.1007/s00251-024-01361-9","DOIUrl":"https://doi.org/10.1007/s00251-024-01361-9","url":null,"abstract":"Cancer immunotherapy hinges on accurate epitope prediction for advancing vaccine development. VaxOptiML (available at https://vaxoptiml.streamlit.app/ ) is an integrated pipeline designed to enhance epitope prediction and prioritization. This study aims to develop and deploy a robust tool for accurate prediction and prioritization of highly immunogenic and optimized MHC-I and MHC-II T-cell epitopes for cancer vaccine development and immunotherapy. Utilizing a curated dataset of experimentally validated epitopes and employing sophisticated machine learning techniques, VaxOptiML features three models: epitope prediction from target sequences, personalized HLA typing, and prioritization the predicted epitopes based on immunogenicity scores. Our rigorous data extraction, cleaning, and feature extraction processes, coupled with model building, yield exceptional accuracy, sensitivity, specificity, and F1 score, surpassing existing prediction methods. Comprehensive visual representations underscore VaxOptiML's robustness and efficacy in accelerating epitope discovery and vaccine design for cancer immunotherapy. Deployed via Streamlit for public use, VaxOptiML enhances accessibility and usability for researchers and clinicians, demonstrating significant potential in cancer immunotherapy.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"77 1","pages":"8"},"PeriodicalIF":2.9,"publicationDate":"2024-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791673","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}

引用次数: 0

Correction to: SNHG3 regulates NEIL3 via transcription factor E2F1 to mediate malignant proliferation of hepatocellular carcinoma.

IF 2.9 4区医学

Immunogenetics Pub Date : 2024-12-06 DOI: 10.1007/s00251-024-01364-6

Fabiao Zhang, Jie Lu, Jian Yang, Qiqiang Dai, Xuefeng Du, Yongfu Xu, Caiming Zhang

引用次数: 0

Novel polymorphic and copy number diversity in the antibody IGH locus of South African individuals.

IF 2.9 4区医学

Immunogenetics Pub Date : 2024-12-04 DOI: 10.1007/s00251-024-01363-7

Alaine A Marsden, Martin Corcoran, Gunilla Karlsson Hedestam, Nigel Garrett, Salim S Abdool Karim, Penny L Moore, Dale Kitchin, Lynn Morris, Cathrine Scheepers

{"title":"Novel polymorphic and copy number diversity in the antibody IGH locus of South African individuals.","authors":"Alaine A Marsden, Martin Corcoran, Gunilla Karlsson Hedestam, Nigel Garrett, Salim S Abdool Karim, Penny L Moore, Dale Kitchin, Lynn Morris, Cathrine Scheepers","doi":"10.1007/s00251-024-01363-7","DOIUrl":"10.1007/s00251-024-01363-7","url":null,"abstract":"The heavy chain of an antibody is crucial for mediating antigen binding. IGHV genes, which partially encode the heavy chain of antibodies, exhibit vast genetic diversity largely through polymorphism and copy number variation (CNV). These genetic variations impact population-level expression levels. In this study, we analyzed expressed antibody transcriptomes and matched germline IGHV genes from donors from KwaZulu-Natal, South Africa. Amplicon NGS targeting germline IGHV sequences was performed on genomic DNA from 70 participants, eight of whom had matched datasets of expressed antibody transcriptomes. Germline IGHV sequencing identified 161 unique IGHV alleles, of which 32 were novel. A further 21 novel IGHV alleles were detected in the expressed transcriptomes of these donors. We also examined the datasets for CNV, uncovering gene duplications of 10 IGHV genes from germline sequencing and 33 genes in the expressed transcriptomes. Many of the IGHV gene duplications have not been described in other populations. This study expands our understanding of genetic differences in distinct populations and suggests the potential impact of genetic diversity on immune responses.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"77 1","pages":"6"},"PeriodicalIF":2.9,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11615098/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142768595","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}

引用次数: 0

Evolutionary diversity of CXCL16-CXCR6: Convergent substitutions and recurrent gene loss in sauropsids. CXCL16-CXCR6的进化多样性：长尾目动物中的趋同替换和经常性基因缺失。

IF 2.9 4区医学

Immunogenetics Pub Date : 2024-12-01 Epub Date: 2024-10-14 DOI: 10.1007/s00251-024-01357-5

Buddhabhushan Girish Salve, Sandhya Sharma, Nagarjun Vijay

{"title":"Evolutionary diversity of CXCL16-CXCR6: Convergent substitutions and recurrent gene loss in sauropsids.","authors":"Buddhabhushan Girish Salve, Sandhya Sharma, Nagarjun Vijay","doi":"10.1007/s00251-024-01357-5","DOIUrl":"10.1007/s00251-024-01357-5","url":null,"abstract":"The CXCL16-CXCR6 axis is crucial for regulating the persistence of CD8 tissue-resident memory T cells (TRM). CXCR6 deficiency lowers TRM cell numbers in the lungs and depletes ILC3s in the lamina propria, impairing mucosal defence. This axis is linked to diseases like HIV/SIV, cancer, and COVID-19. Together, these highlight that the CXCL16-CXCR6 axis is pivotal in host immunity. Previous studies of the CXCL16-CXCR6 axis found genetic variation among species but were limited to primates and rodents. To understand the evolution and diversity of CXCL16-CXCR6 across vertebrates, we compared approximately 400 1-to-1 CXCR6 orthologs spanning diverse vertebrates. The unique DRF motif of CXCR6 facilitates leukocyte adhesion by interacting with cell surface-expressed CXCL16 and plays a key role in G-protein selectivity during receptor signalling; however, our findings show that this motif is not universal. The DRF motif is restricted to mammals, turtles, and frogs, while the DRY motif, typical in other CKRs, is found in snakes and lizards. Most birds exhibit the DRL motif. These substitutions at the DRF motif affect the receptor-Gi/o protein interaction. We establish recurrent CXCR6 gene loss in 10 out of 36 bird orders, including Galliformes and Passeriformes, Crocodilia, and Elapidae, attributed to segmental deletions and/or frame-disrupting changes. Notably, single-cell RNA sequencing of the lung shows a drop in TRM cells in species with CXCR6 loss, suggesting a possible link. The concurrent loss of ITGAE, CXCL16, and CXCR6 in chickens may have altered CD8 TRM cell abundance, with implications for immunity against viral diseases and vaccines inducing CD8 TRM cells.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"76 5-6","pages":"397-415"},"PeriodicalIF":2.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464270","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}

引用次数: 0

The sufficiency of genetic diagnosis in managing patients with inborn errors of immunity during prenatal care and childbearing. 基因诊断在产前护理和生育期间管理先天性免疫错误患者方面的充分性。

IF 2.9 4区医学

Immunogenetics Pub Date : 2024-12-01 Epub Date: 2024-07-18 DOI: 10.1007/s00251-024-01347-7

Negin Salemi, Shima Bakhshesh, Amir Bahreini, Rasoul Salehi, Aryana Zamanifar, Fariba Dehghan, Roya Sherkat

{"title":"The sufficiency of genetic diagnosis in managing patients with inborn errors of immunity during prenatal care and childbearing.","authors":"Negin Salemi, Shima Bakhshesh, Amir Bahreini, Rasoul Salehi, Aryana Zamanifar, Fariba Dehghan, Roya Sherkat","doi":"10.1007/s00251-024-01347-7","DOIUrl":"10.1007/s00251-024-01347-7","url":null,"abstract":"Individuals with inborn errors of immunity face challenges in fertility, pregnancy, and genetic disorder transmission. Prenatal genetic counseling is crucial, especially in tribal societies with consanguineous unions. Ten families with confirmed inborn errors of immunity were studied, revealing diverse pregnancy decisions: An architect with autosomal dominant STAT-1 gain of function underwent prenatal diagnosis despite initial plans for preimplantation genetic diagnosis. In a consanguineous family, two children died from leukocyte adhesion deficiency type 1 because the father refused prenatal diagnosis. First cousins opted against terminating the second pregnancy, resulting in two children affected by Bruton disease. Another consanguineous couple, with two children afflicted by ataxia-telangiectasia, chose oocyte donation for their third child, ensuring a healthy birth. Recurrent pregnancy loss was observed in a mother subsequently diagnosed with ZAP70 deficiency. A mother with Wiskott-Aldrich syndrome child opted for in vitro fertilization, leading to a healthy birth post-prenatal diagnosis. A misdiagnosis of anaplastic anemia occurred in a family with multiple instances of Wiskott-Aldrich syndrome. A leukocyte adhesion deficiency type 1 case led to parental dissolution due to the father's refusal to acknowledge the condition. In a non-consanguineous couple, the father's diagnosis of TACI deficiency influenced the mother's decision to discontinue pregnancy post-prenatal diagnosis. Genetic diagnosis alone cannot optimize prenatal care for immune dysregulation disorders. Various factors, including patient education, societal norms, ethics, and economics, impact pregnancy decisions. Clinical immunologists must integrate these elements into guidance strategies to enhance patient outcomes.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"271-277"},"PeriodicalIF":2.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141633421","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}

引用次数: 0

The effect of circulating cytokines on the risk of systemic lupus erythematosus: Mendelian randomization and observational study. 循环细胞因子对系统性红斑狼疮风险的影响：孟德尔随机和观察研究。

IF 2.9 4区医学

Immunogenetics Pub Date : 2024-12-01 Epub Date: 2024-08-26 DOI: 10.1007/s00251-024-01351-x

Dan Xue, Yu Qian, Xiao Tu, Mu He, Fengling Xing, Yunqing Ren, Chengda Yuan

{"title":"The effect of circulating cytokines on the risk of systemic lupus erythematosus: Mendelian randomization and observational study.","authors":"Dan Xue, Yu Qian, Xiao Tu, Mu He, Fengling Xing, Yunqing Ren, Chengda Yuan","doi":"10.1007/s00251-024-01351-x","DOIUrl":"10.1007/s00251-024-01351-x","url":null,"abstract":"Systemic lupus erythematosus (SLE) is a complex autoimmune disorder, the etiology of which involves the alterations in circulating cytokine levels. However, the cause-and-effect relationships and in-depth clinical relevance of them remain to be systematically investigated. We conducted a two-sample Mendelian randomization (MR) study to assess the causality of circulating cytokine levels and SLE and found that genetically determined elevated CTACK and IL-18 were associated with an increased risk of SLE, whereas a higher level of GRO-a was associated with decreased risk. Furthermore, we performed an observational study to further reveal the association between 27 cytokines and the severity measured by SLEDAI score, as well as lupus nephritis (LN), of SLE. We identified six cytokines (MCP1, MIP1β, CTACK, IP10, HGF, IL18, IL13) that were identified as associated with the clinical severity of SLE, and five cytokines, especially IL18, were related with LN and may have good diagnostic value. Moreover, we also predicted four compounds that might have good binding activities with IL18. The evidence supported a potential causal role of circulating cytokines on the risk of SLE. Targeting IL18 might be a meaningful strategy for the prevention or treatment of SLE, especially in LN patients.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"315-322"},"PeriodicalIF":2.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11496328/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142055475","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}

引用次数: 0

NOD alleles at Idd1 and Idd2 loci drive exocrine pancreatic inflammation. Idd1和Idd2基因座上的NOD等位基因驱动胰腺外分泌炎症。

IF 2.9 4区医学

Immunogenetics Pub Date : 2024-12-01 Epub Date: 2024-08-29 DOI: 10.1007/s00251-024-01352-w

Laurence Caron, Daria Vdovenko, Félix Lombard-Vadnais, Sylvie Lesage

{"title":"NOD alleles at Idd1 and Idd2 loci drive exocrine pancreatic inflammation.","authors":"Laurence Caron, Daria Vdovenko, Félix Lombard-Vadnais, Sylvie Lesage","doi":"10.1007/s00251-024-01352-w","DOIUrl":"10.1007/s00251-024-01352-w","url":null,"abstract":"Non-obese diabetic (NOD) mice spontaneously develop autoimmune diabetes and have enabled the identification of several loci associated with diabetes susceptibility, termed insulin-dependent diabetes (Idd). The generation of congenic mice has allowed the characterization of the impact of several loci on disease susceptibility. For instance, NOD.B6-Idd1 and B6.NOD-Idd1 congenic mice were instrumental in demonstrating that susceptibility alleles at the MHC locus (known as Idd1) are necessary but not sufficient for autoimmune diabetes progression. We previously showed that diabetes resistance alleles at the Idd2 locus provide significant protection from autoimmune diabetes onset, second to Idd1. In search of the minimal genetic factors required for T1D onset, we generated B6.Idd1.Idd2 double-congenic mice. Although the combination of Idd1 and Idd2 is not sufficient to induce diabetes onset, we observed immune infiltration in the exocrine pancreas of B6.Idd2 mice, as well as an increase in neutrophils and pancreatic tissue fibrosis. In addition, we observed phenotypic differences in T-cell subsets from B6.Idd1.Idd2 mice relative to single-congenic mice, suggesting epistatic interaction between Idd1 and Idd2 in modulating T-cell function. Altogether, these data show that Idd1 and Idd2 susceptibility alleles are not sufficient for autoimmune diabetes but contribute to inflammation and immune infiltration in the pancreas.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"323-333"},"PeriodicalIF":2.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142107020","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}

引用次数: 0

Decoding the genetic landscape of juvenile dermatomyositis: insights from phosphorylation-associated single nucleotide polymorphisms. 解码幼年皮肌炎的基因图谱：从磷酸化相关单核苷酸多态性中获得启示。

IF 2.9 4区医学

Immunogenetics Pub Date : 2024-12-01 Epub Date: 2024-07-31 DOI: 10.1007/s00251-024-01350-y

Huan Zhang, Zhentao Zhang, Kedi Fan, Hongru Chen, Yufan Guo, Xingbo Mo

{"title":"Decoding the genetic landscape of juvenile dermatomyositis: insights from phosphorylation-associated single nucleotide polymorphisms.","authors":"Huan Zhang, Zhentao Zhang, Kedi Fan, Hongru Chen, Yufan Guo, Xingbo Mo","doi":"10.1007/s00251-024-01350-y","DOIUrl":"10.1007/s00251-024-01350-y","url":null,"abstract":"Genome-wide association studies (GWASs) have identified genetic susceptibility loci associated with juvenile dermatomyositis (JDM). Single nucleotide polymorphisms related to phosphorylation (phosSNPs) are critical nonsynonymous mutations exerting substantial influence on gene expression regulation. The aim of this study was to identify JDM susceptibility genes in the GWAS loci by the use of phosSNPs. We explored quantitative trait loci (QTLs) among the phosSNPs associated with JDM using data from eQTL (bulk tissues and single-cell) and pQTL studies. For gene expression and protein levels significantly influenced by JDM-associated phosSNPs, we assessed their associations with JDM through MR analyses. Additionally, we conducted differential expression gene analyses, incorporating single-cell transcriptomic profiling of 6 JDM cases and 11 juvenile controls (99,396 cells). We identified 31 phosSNPs situated in the 6p21 locus that were associated with JDM. Half of these phosSNPs showed effects on gene expression in various cells and circulating protein levels. In MR analyses, we established associations between the expression levels of pivotal JDM-associated genes, including MICB, C4A, HLA-DRB1, HLA-DRB5, and PSMB9, in skin, muscle, or blood cells and circulating levels of C4A, with JDM. Utilizing single-cell eQTL data, we identified a total of 276 association signals across 14 distinct immune cell types for 28 phosSNPs. Further insights were gained through single-cell differential expression analysis, revealing differential expression of PSMB9, HLA-A, HLA-B, HLA-C, HLA-DPB1, HLA-DQA1, HLA-DQB1, and HLA-DRB1 in immune cells. The present study pinpointed phosSNPs within susceptibility genes for JDM and unraveled the intricate relationships among these SNPs, gene expression levels, and JDM.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"291-304"},"PeriodicalIF":2.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141859597","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}

引用次数: 0

Bioinformatic analysis predicts the regulatory function of noncoding SNPs associated with Long COVID-19 syndrome. 生物信息学分析预测了与长 COVID-19 综合征相关的非编码 SNP 的调控功能。

IF 2.9 4区医学

Immunogenetics Pub Date : 2024-12-01 Epub Date: 2024-07-23 DOI: 10.1007/s00251-024-01348-6

Amit K Maiti

{"title":"Bioinformatic analysis predicts the regulatory function of noncoding SNPs associated with Long COVID-19 syndrome.","authors":"Amit K Maiti","doi":"10.1007/s00251-024-01348-6","DOIUrl":"10.1007/s00251-024-01348-6","url":null,"abstract":"Long or Post COVID-19 is a condition of collected symptoms persisted after recovery from COVID-19. Host genetic factors play a crucial role in developing Long COVID-19, and GWAS studies identified several SNPs/genes in various ethnic populations. In African-American population two SNPS, rs10999901 (C>T, p = 3.6E-08, OR = 1.39, MAF-0,27, GRCH38, chr10:71584799 bp) and rs1868001 (G>A, p = 6.7E-09, OR = 1.40, MAF-0.46, GRCH38, chr10:71587815 bp) and in Hispanic population, rs3759084 (A>C, p = 9.7E-09, OR = 1.56, MAF-0.17, chr12: 81,110,156 bp) are strongly associated with Long COVID-19. All these three SNPs reside in noncoding regions implying their regulatory function in the genome. In silico dissection suggests that rs10999901 and rs1868001 physically interact with the CDH23 and C10orf105 genes. Both SNPs act as distant enhancers and bind with several transcription factors (TFs). Further, rs10999901 SNP is a CpG that is methylated in CD4++ T cells and monocytes and loses its methylation due to transition from C>T. rs3759084 is located in the promoter (- 687 bp) of MYF5, acts as a distant enhancer, and physically interacts with PTPRQ. These results offer plausible explanations for their association and provide the basis for experiments to dissect the development of symptoms of Long COVID-19.","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":" ","pages":"279-290"},"PeriodicalIF":2.9,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141748113","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}

引用次数: 0