Immunogenetics最新文献

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Characterization and genetic diversity of MHC class II DRB genes in the Arabian camel (Camelus dromedarius). 阿拉伯骆驼(Camelus dromedarius) MHCⅱ类DRB基因的特征及遗传多样性
IF 3.2 4区 医学
Immunogenetics Pub Date : 2023-08-01 DOI: 10.1007/s00251-023-01303-x
Mohamed Habib Yahyaoui
{"title":"Characterization and genetic diversity of MHC class II DRB genes in the Arabian camel (Camelus dromedarius).","authors":"Mohamed Habib Yahyaoui","doi":"10.1007/s00251-023-01303-x","DOIUrl":"https://doi.org/10.1007/s00251-023-01303-x","url":null,"abstract":"<p><p>This study investigated the MHC DRB genes in the Arabian camel (Camelus dromedarius). The results revealed the presence of - at least - two transcribed DRB-like genes in chromosome 20, designated MhcCadr-DRB1 and MhcCadr-DRB2. These genes are 155 Kb apart, have similar gene structure, and are transcribed in opposite directions. Compared to DRB1, the DRB2 locus contains a deletion of 12 nucleotides in the second exon (270 bp), exhibits lower transcript abundance, and is expressed as two splice variants differing by exon 2 skipping. This gene seems to be of minor functional relevance in the dromedary camel. Conversely, the DRB1 is thought to be the main gene in this species showing higher transcript abundance and polymorphism levels. A total of seven DRB1 exon 2 alleles were identified in the Tunisian dromedary camel resulting from 18 amino acid substitutions. Six full length alleles were characterized at the mRNA level. Although there is no clear evidence for balancing selection (i.e., heterozygote advantage), signals of weak historical positive selection acting on the DRB1 gene were detected, as indicated by the limited number of the sites being positively selected. This trend might be related to the low exposure to pathogens and to the demographic history of the species. Comparative analysis with Bactrian and wild camel genomes suggested occurrence of trans species polymorphism (TSP) in the Camelus genus. The results lay the foundation for the MHC DRB1 genetic diversity analysis in this genus since the developed genotyping protocols are fully applicable in the three Camelus species.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"75 4","pages":"355-368"},"PeriodicalIF":3.2,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10072047/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10228222","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
Correction to: Evaluation of miRNA-16-2-3P, miRNA-618 levels and their diagnostic and prognostic value in the regulation of immune response during SARS Cov-2 infection. 修正:评估miRNA-16-2-3P和miRNA-618水平及其在SARS - Cov-2感染期间免疫反应调节中的诊断和预后价值。
IF 3.2 4区 医学
Immunogenetics Pub Date : 2023-08-01 DOI: 10.1007/s00251-023-01312-w
Nourelhoda E Hassan, Walaa A Moselhy, Ehab B Eldomany, Emad Farah Mohamad Kholef
{"title":"Correction to: Evaluation of miRNA-16-2-3P, miRNA-618 levels and their diagnostic and prognostic value in the regulation of immune response during SARS Cov-2 infection.","authors":"Nourelhoda E Hassan,&nbsp;Walaa A Moselhy,&nbsp;Ehab B Eldomany,&nbsp;Emad Farah Mohamad Kholef","doi":"10.1007/s00251-023-01312-w","DOIUrl":"https://doi.org/10.1007/s00251-023-01312-w","url":null,"abstract":"","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"75 4","pages":"411"},"PeriodicalIF":3.2,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10353949/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10219466","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
Evolution of immunogenetic components encoding ultralong CDR H3. 编码超长CDR H3的免疫遗传成分的进化。
IF 2.9 4区 医学
Immunogenetics Pub Date : 2023-08-01 Epub Date: 2023-04-21 DOI: 10.1007/s00251-023-01305-9
Jeannine A Ott, Christian Mitchell, Morgan Sheppard, Thad C Deiss, J M Cody Horton, Jeremy K Haakenson, Ruiqi Huang, Abigail R Kelley, Brian W Davis, James N Derr, Vaughn V Smider, Michael F Criscitiello
{"title":"Evolution of immunogenetic components encoding ultralong CDR H3.","authors":"Jeannine A Ott, Christian Mitchell, Morgan Sheppard, Thad C Deiss, J M Cody Horton, Jeremy K Haakenson, Ruiqi Huang, Abigail R Kelley, Brian W Davis, James N Derr, Vaughn V Smider, Michael F Criscitiello","doi":"10.1007/s00251-023-01305-9","DOIUrl":"10.1007/s00251-023-01305-9","url":null,"abstract":"<p><p>The genomes of most vertebrates contain many V, D, and J gene segments within their Ig loci to construct highly variable CDR3 sequences through combinatorial diversity. This nucleotide variability translates into an antibody population containing extensive paratope diversity. Cattle have relatively few functional VDJ gene segments, requiring innovative approaches for generating diversity like the use of ultralong-encoding IGHV and IGHD gene segments that yield dramatically elongated CDR H3. Unique knob and stalk microdomains create protracted paratopes, where the antigen-binding knob sits atop a long stalk, allowing the antibody to bind both surface and recessed antigen epitopes. We examined genomes of twelve species of Bovidae to determine when ultralong-encoding IGHV and IGHD gene segments evolved. We located the 8-bp duplication encoding the unique TTVHQ motif in ultralong IGHV segments in six Bovid species (cattle, zebu, wild yak, domestic yak, American bison, and domestic gayal), but we did not find evidence of the duplication in species beyond the Bos and Bison genera. Additionally, we analyzed mRNA from bison spleen and identified a rich repertoire of expressed ultralong CDR H3 antibody mRNA, suggesting that bison use ultralong IGHV transcripts in their host defense. We found ultralong-encoding IGHD gene segments in all the same species except domestic yak, but again not beyond the Bos and Bison clade. Thus, the duplication event leading to this ultralong-encoding IGHV gene segment and the emergence of the ultralong-encoding IGHD gene segment appears to have evolved in a common ancestor of the Bos and Bison genera 5-10 million years ago.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"75 4","pages":"323-339"},"PeriodicalIF":2.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10119515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9851940","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
Germline-enforced enrichment for charged amino acids in TCR beta chain (TCRβ) complementarity determining region 3 (CDR-B3) alters T cell development, repertoire content, and antigen recognition. TCRβ链(TCRβ)互补决定区3 (CDR-B3)中带电氨基酸的种系强制富集改变了T细胞的发育、库内容和抗原识别。
IF 3.2 4区 医学
Immunogenetics Pub Date : 2023-08-01 DOI: 10.1007/s00251-023-01304-w
Michael Levinson, Mohamed Khass, Peter D Burrows, Harry W Schroeder
{"title":"Germline-enforced enrichment for charged amino acids in TCR beta chain (TCRβ) complementarity determining region 3 (CDR-B3) alters T cell development, repertoire content, and antigen recognition.","authors":"Michael Levinson,&nbsp;Mohamed Khass,&nbsp;Peter D Burrows,&nbsp;Harry W Schroeder","doi":"10.1007/s00251-023-01304-w","DOIUrl":"https://doi.org/10.1007/s00251-023-01304-w","url":null,"abstract":"<p><p>T cell receptor beta chain (TCRβ) diversity (Dβ) gene segments are highly conserved across evolution, with trout Dβ1 sequence identical to human and mouse Dβ1. A key conserved feature is enrichment for glycine in all three Dβ reading frames (RFs). Previously, we found that replacement of mouse Dβ1 with a typical immunoglobulin D<sub>H</sub> sequence, which unlike Dβ is enriched for tyrosine, leads to an increase in the use of tyrosine in TCRβ complementarity determining region 3 (CDR-B3) after thymic selection, altering T cell numbers, CDR-B3 diversity, and T cell function. To test whether the incorporation of charged amino acids into the Dβ sequence in place of glycine would also influence T cell biology, we targeted the TCRβ locus with a novel glycine-deficient DβDKRQ allele that replaces Dβ1 coding sequence with charged amino acids in all three reading frames. Developing T cells using DβDKRQ expressed TCR CDR-B3s depleted of tyrosine and glycine and enriched for germline-encoded lysine, arginine, and glutamine. Total thymocytes declined in number during the process of β selection that occurs during the transition from the DN3bc to DN4 stage. Conventional thymocyte and T cell numbers remained reduced at all subsequent thymic stages and in the spleen. By contrast, regulatory T cell numbers were increased in Peyer's patches and the large intestine. In terms of functional consequences, T cell reactivity to an ovalbumin immunodominant epitope was reduced. These findings buttress the view that natural selection of Dβ sequence is used to shape the pre-immune TCRβ repertoire, affecting both conventional and regulatory T cell development and influencing epitope recognition.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"75 4","pages":"341-353"},"PeriodicalIF":3.2,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10209946","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: 1
Evaluation of miRNA-16-2-3P, miRNA-618 levels and their diagnostic and prognostic value in the regulation of immune response during SARS Cov-2 infection. miRNA-16-2-3P和miRNA-618水平在SARS - Cov-2感染期间免疫应答调节中的诊断和预后价值
IF 3.2 4区 医学
Immunogenetics Pub Date : 2023-08-01 DOI: 10.1007/s00251-023-01308-6
Nourelhoda E Hassan, Walaa A Moselhy, Ehab B Eldomany, Emad Farah Mohamad Kholef
{"title":"Evaluation of miRNA-16-2-3P, miRNA-618 levels and their diagnostic and prognostic value in the regulation of immune response during SARS Cov-2 infection.","authors":"Nourelhoda E Hassan,&nbsp;Walaa A Moselhy,&nbsp;Ehab B Eldomany,&nbsp;Emad Farah Mohamad Kholef","doi":"10.1007/s00251-023-01308-6","DOIUrl":"https://doi.org/10.1007/s00251-023-01308-6","url":null,"abstract":"<p><p>Following the announcement of the pandemic of COVID-19 in December 2019, several studies focused on how to early predict the severity of the disease in symptomatic and asymptomatic patients. Many cytokines including interleukin-6, interleukin-8, and tumor necrotic factors have been concluded as strong indicators for COVID-19 infection. Additionally, miRNAs have been associated with dysregulation in the immune system. The aim of this study are the following: (1) to estimate the level of miRNA-16-2-3P, miRNA-618, IL-8, IL-1β as predictors for SARS-CoV-2 complications in PCR negative and positive patients; (2) to assess the biological role and effect of these miRNAs on SARS-CoV-2 pathogenicity. Our study showed that the level of IL-1β had been significantly associated with patient who need hospitalization, also the alteration of the level of miRNA-16-2-3P, miRNA-618 is positively correlated with the admission of these patients and influence the outcomes of SARS-cov-2 infection. Measurement of miRNA-16-2-3P, miRNA-618, IL-1β could be a good predictor of COVID-19 patient outcome. However the measurement of IL-8 levels during immune responses in the admitted and in ICU patients could have a prognostic value.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"75 4","pages":"403-410"},"PeriodicalIF":3.2,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10206366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9852707","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
Prognostic value of the WT-1 gene combined with recurrent cytogenetic genes in acute myeloid leukemia. WT-1基因联合复发性细胞遗传基因在急性髓系白血病中的预后价值。
IF 3.2 4区 医学
Immunogenetics Pub Date : 2023-08-01 DOI: 10.1007/s00251-023-01314-8
Qing Zhang, Linlin Liu, Haotian Yan, Xiyang Ren, Mei Zhou, Shudao Xiong, Huiping Wang, Qianshan Tao, Zhimin Zhai
{"title":"Prognostic value of the WT-1 gene combined with recurrent cytogenetic genes in acute myeloid leukemia.","authors":"Qing Zhang,&nbsp;Linlin Liu,&nbsp;Haotian Yan,&nbsp;Xiyang Ren,&nbsp;Mei Zhou,&nbsp;Shudao Xiong,&nbsp;Huiping Wang,&nbsp;Qianshan Tao,&nbsp;Zhimin Zhai","doi":"10.1007/s00251-023-01314-8","DOIUrl":"https://doi.org/10.1007/s00251-023-01314-8","url":null,"abstract":"<p><p>Wilms tumor gene 1 (WT-1 gene) is overexpressed in most patients with acute myeloid leukemia (AML) and is an indicator for minimal residual disease (MRD) monitoring, but because the WT-1 gene has relatively low specificity, further studies of the prognostic value of a combination of the WT-1 and other genes are needed. The aim of this study was to explore the prognostic value of the WT-1 gene combined with recurrent cytogenetic genes in AML. In AML, the transcript expression of the WT-1 gene was closely related to leukemic tumor burden and acted as an accurate molecular indicator for MRD detection. Most patients with low expression levels of the WT-1 gene after induction and consolidation therapy were significantly associated with favorable relapse-free survival (RFS) and overall survival (OS), but 17.6% of patients relapsed and died of primary disease. However, when analyzing the WT-1 gene combined with recurrent cytogenetic genes, none of the patients with low expression levels of the WT-1 gene and recurrent cytogenetic genes negative relapsed and died in the median follow-up time of 19 months (range: 3-94 months). Thus, the combination of the WT-1 gene and recurrent cytogenetic genes is a more accurate indicator for MRD monitoring and prognosis evaluation in AML patients.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"75 4","pages":"395-401"},"PeriodicalIF":3.2,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9851972","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
Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene. 1例RAG1基因复合杂合突变引起的Omenn综合征患者的免疫学评估
IF 3.2 4区 医学
Immunogenetics Pub Date : 2023-08-01 DOI: 10.1007/s00251-023-01309-5
Wenjun Mou, Zixin Yang, Xiaojiao Wang, Mingyan Hei, Yajuan Wang, Jingang Gui
{"title":"Immunological assessment of a patient with Omenn syndrome resulting from compound heterozygous mutations in the RAG1 gene.","authors":"Wenjun Mou,&nbsp;Zixin Yang,&nbsp;Xiaojiao Wang,&nbsp;Mingyan Hei,&nbsp;Yajuan Wang,&nbsp;Jingang Gui","doi":"10.1007/s00251-023-01309-5","DOIUrl":"https://doi.org/10.1007/s00251-023-01309-5","url":null,"abstract":"<p><p>The recombination activating gene 1 (RAG1) is essential for V(D)J recombination during T- and B-cell development. In this study, we presented a case study of a 41-day-old female infant who exhibited symptoms of generalized erythroderma, lymphadenopathy, hepatosplenomegaly, and recurrent infections including suppurative meningitis and septicemia. The patient showed a T<sup>+</sup>B<sup>-</sup>NK<sup>+</sup> immunophenotype. We observed an impaired thymic output, as indicated by reduced levels of naive T cells and sjTRECs, coupled with a restricted TCR repertoire. Additionally, T-cell CFSE proliferation was impaired, indicating a suboptimal T-cell response. Notably, our data further revealed that T cells were in an activated state. Genetic analysis revealed a previously reported compound heterozygous mutation (c. 1186C > T, p. R396C; c. 1210C > T, p. R404W) in the RAG1 gene. Structural analysis of RAG1 suggested that the R396C mutation might lead to the loss of hydrogen bonds with neighboring amino acids. These findings contribute to our understanding of RAG1 deficiency and may have implications for the development of novel therapies for patients with this condition.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"75 4","pages":"385-393"},"PeriodicalIF":3.2,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10209961","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
Complement component C1q is an immunological rheostat that regulates Fc:Fc γR interactions. 补体组分C1q是一种调节Fc:Fc γR相互作用的免疫变阻器。
IF 2.9 4区 医学
Immunogenetics Pub Date : 2023-08-01 Epub Date: 2023-06-15 DOI: 10.1007/s00251-023-01311-x
Edward C So, Hua Zhou, Ariana Greenwell, Erin E Burch, Yaping Ji, Emmanuel Y Mérigeon, Henrik S Olsen, Søren M Bentzen, David S Block, Xiaoyu Zhang, Scott E Strome
{"title":"<ArticleTitle xmlns:ns0=\"http://www.w3.org/1998/Math/MathML\">Complement component C1q is an immunological rheostat that regulates Fc:Fc<ns0:math>\u0000 <ns0:mi>γ</ns0:mi>\u0000</ns0:math>R interactions.","authors":"Edward C So, Hua Zhou, Ariana Greenwell, Erin E Burch, Yaping Ji, Emmanuel Y Mérigeon, Henrik S Olsen, Søren M Bentzen, David S Block, Xiaoyu Zhang, Scott E Strome","doi":"10.1007/s00251-023-01311-x","DOIUrl":"10.1007/s00251-023-01311-x","url":null,"abstract":"<p><p>Though binding sites for the complement factor C1q and the canonical fragment crystallizable (Fc) gamma receptors (Fc<math>\u0000 <mi>γ</mi>\u0000</math>Rs) on immunoglobulin G (IgG) molecules overlap, how C1q decoration of immune complexes (ICs) influences their ability to engage Fc<math>\u0000 <mi>γ</mi>\u0000</math>Rs remains unknown. In this report, we use recombinant human Fc multimers as stable IC mimics to show that C1q engagement of ICs directly and transiently inhibits their interactions with Fc<math>\u0000 <mi>γ</mi>\u0000</math>RIII (CD16) on human natural killer (NK) cells. This inhibition occurs by C1q engagement alone as well as in concert with other serum factors. Furthermore, the inhibition of Fc<math>\u0000 <mi>γ</mi>\u0000</math>RIII engagement mediated by avid binding of C1q to ICs is directly associated with IC size and dependent on the concentrations of both C1q and Fc multimers present. Functionally, C1q-mediated Fc blockade limits the ability of NK cells to induce the upregulation of the cosignaling molecule, 4-1BB (CD137), and to mediate antibody-dependent cell-mediated cytotoxicity (ADCC). Although C1q is traditionally viewed as a soluble effector molecule, we demonstrate that C1q may also take on the role of an \"immunologic rheostat,\" buffering Fc<math>\u0000 <mi>γ</mi>\u0000</math>R-mediated activation of immune cells by circulating ICs. These data define a novel role for C1q as a regulator of immune homeostasis and add to our growing understanding that complement factors mediate pleiotropic effects.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"75 4","pages":"369-383"},"PeriodicalIF":2.9,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9842395","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 immunogenetics of tuberculosis (TB) susceptibility. 结核病(TB)易感性的免疫遗传学。
IF 3.2 4区 医学
Immunogenetics Pub Date : 2023-06-01 DOI: 10.1007/s00251-022-01290-5
Carene Anne Alene Ndong Sima, Dayna Smith, Desiree C Petersen, Haiko Schurz, Caitlin Uren, Marlo Möller
{"title":"The immunogenetics of tuberculosis (TB) susceptibility.","authors":"Carene Anne Alene Ndong Sima,&nbsp;Dayna Smith,&nbsp;Desiree C Petersen,&nbsp;Haiko Schurz,&nbsp;Caitlin Uren,&nbsp;Marlo Möller","doi":"10.1007/s00251-022-01290-5","DOIUrl":"https://doi.org/10.1007/s00251-022-01290-5","url":null,"abstract":"<p><p>Tuberculosis (TB), caused by Mycobacterium tuberculosis (Mtb), remains the leading cause of death due to a single bacterial agent, with approximately 10.6 million people developing active disease and 1.6 million deaths reported globally in 2021. After exposure, some, but not all individuals, will become infected with the bacillus. However, only a small fraction (approximately 5 to 15%) of these individuals will progress to clinical disease, while in the remainder, infection is seemingly contained, and no signs of clinical disease are shown. Numerous observations have advocated for the role of host genetics in the display of these inter-individual variabilities in infection and disease phenotypes. In this review, we will provide an overview of the approaches, findings and limitations of the very first studies investigating TB genetic susceptibility to more recent studies. Lastly, we highlight several approaches, namely, linkage analyses and association studies, proposed to discover genetic markers associated with TB susceptibility. This review also explored the concept of polygenic risk scores (PRS) for prediction of tuberculosis susceptibility. The identification of host genetic factors influencing TB susceptibility/resistance is paramount to not only better understand the physiopathology of the disease but also explore more effective approaches for the development of both optimal preventive measures (i.e. better vaccines) and treatments of TB disease.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"75 3","pages":"215-230"},"PeriodicalIF":3.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9572021","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: 3
The impact of HLA polymorphism on herpesvirus infection and disease. HLA多态性对疱疹病毒感染和疾病的影响。
IF 3.2 4区 医学
Immunogenetics Pub Date : 2023-06-01 DOI: 10.1007/s00251-022-01288-z
William H Palmer, Paul J Norman
{"title":"The impact of HLA polymorphism on herpesvirus infection and disease.","authors":"William H Palmer,&nbsp;Paul J Norman","doi":"10.1007/s00251-022-01288-z","DOIUrl":"https://doi.org/10.1007/s00251-022-01288-z","url":null,"abstract":"<p><p>Human Leukocyte Antigens (HLA) are cell surface molecules, central in coordinating innate and adaptive immune responses, that are targets of strong diversifying natural selection by pathogens. Of these pathogens, human herpesviruses have a uniquely ancient relationship with our species, where coevolution likely has reciprocating impact on HLA and viral genomic diversity. Consistent with this notion, genetic variation at multiple HLA loci is strongly associated with modulating immunity to herpesvirus infection. Here, we synthesize published genetic associations of HLA with herpesvirus infection and disease, both from case/control and genome-wide association studies. We analyze genetic associations across the eight human herpesviruses and identify HLA alleles that are associated with diverse herpesvirus-related phenotypes. We find that whereas most HLA genetic associations are virus- or disease-specific, HLA-A*01 and HLA-A*02 allotypes may be more generally associated with immune susceptibility and control, respectively, across multiple herpesviruses. Connecting genetic association data with functional corroboration, we discuss mechanisms by which diverse HLA and cognate receptor allotypes direct variable immune responses during herpesvirus infection and pathogenesis. Together, this review examines the complexity of HLA-herpesvirus interactions driven by differential T cell and Natural Killer cell immune responses.</p>","PeriodicalId":13446,"journal":{"name":"Immunogenetics","volume":"75 3","pages":"231-247"},"PeriodicalIF":3.2,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10205880/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10069628","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: 1
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