International Journal of Immunogenetics最新文献

{"title":"Study of HLA class II loci reveals DQB1*03:03:02 as a risk factor for asthma in a Pakistani population","authors":"Nusrat Saba,&nbsp;Ghazala Kaukab Raja,&nbsp;Osman Yusuf,&nbsp;Sadia Rehman,&nbsp;Saeeda Munir,&nbsp;Sumaira Sajjad,&nbsp;Atika Mansoor","doi":"10.1111/iji.12602","DOIUrl":"10.1111/iji.12602","url":null,"abstract":"<p>Asthma, a chronic inflammatory disorder of the lungs and airways, typically results from a combination of multiple environmental and genetic factors. Human leucocyte antigen (HLA) region on chromosome 6p21 encodes the most highly polymorphic loci in the human genome, encoding genes with central roles in the immune function where HLA loci are strongly associated with various immune-mediated diseases such as autoimmunity, allergies and infection. The alleles of HLA class II genes such as <i>DRB1</i> and <i>DQB1</i> are the key genetic markers in the development of asthma and have been extensively studied in different ethnicities of the world population. However, the genetic screening of HLA class II alleles and haplotypes in Pakistani asthmatics has not been studied so far. The aim of the present study was to screen the HLA class II <i>DRB1</i> and <i>DQB1</i> alleles in asthma cases and controls in a Pakistani population. Seven hundred and two healthy controls and asthma patients were genotyped for HLA class II by sequence-specific polymerase chain reaction assays. The <i>HLA-DRB1</i> and <i>HLA-DQB1</i> allele and haplotype frequencies were calculated, and their risk or protective association with asthma was determined. Two-locus haplotypes of <i>DRB1</i> and <i>DQB1</i> alleles were imputed using Arlequin version 3.1 software. The signals of association with asthma were stronger at the DQB1 locus as compared to DRB1. <i>HLA DQB1*03:03:02</i> (odds ratio [OR] = 2.42, 95% confidence interval [CI] = 1.34–4.25) was significantly associated with an increased risk of asthma, as was the haplotype comprised allele <i>DRB1*07:01-DQB1*03:03:02</i> (OR = 2.40, 95% CI = 1.25–4.62). In contrast, <i>DQB1*06</i> (OR = 0.39, 95% CI = 0.22–0.70) and <i>DQB1*06:02</i> (OR = 0.27, 95% CI = 0.10–0.71) emerged as protective alleles for asthma. Our data concludes that the <i>HLA DQB1*03:03:02</i> allele was a risk allele for asthma, whereas two DQB1 alleles, <i>DQB1*06</i> and <i>DQB1*06:02</i>, were associated with asthma protection. Our findings highlight a prominent role for <i>HLA-DQB1</i> alleles in asthma pathogenesis in studied Pakistani cases. More studies, especially with a larger study cohort are needed to confirm the utility of <i>HLA DQB1*03:03:02</i> as a predictive marker.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 6","pages":"372-378"},"PeriodicalIF":2.2,"publicationDate":"2022-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40563810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Investigation of cytokine polymorphisms on viral infections after renal transplantation exhibit association between IFN-γ +874 A > T and CMV manifestations","authors":"Stéphanie Gomes Santos de Almeida,&nbsp;Fabiana Batalha Knakcfuss,&nbsp;Lívia Maria Assis,&nbsp;Regina Celia Gonçalves de Sousa,&nbsp;Tereza Azevedo Matuck,&nbsp;Deise de Boni Monteiro de Carvalho,&nbsp;Ricardo Luiz Dantas Machado,&nbsp;Maria Angelica Arpon Marandino Guimarães,&nbsp;Rafael Brandão Varella","doi":"10.1111/iji.12601","DOIUrl":"10.1111/iji.12601","url":null,"abstract":"<p>We investigated the effects of TNF-α, IFN-γ, IL-10 polymorphisms on viral infections (CMV, BKPyV, HHV-6, EBV) after renal transplantation. IFN-γ+874 A &gt; T (lower IFN production) was associated with CMV disease (<i>p</i> = .039) in patients under mycophenolate-based therapy and graft failure (<i>p</i> = .025). This study underscores the role of IFN-γ+874 SNP in CMV infection.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 6","pages":"379-383"},"PeriodicalIF":2.2,"publicationDate":"2022-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33487594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Oral Abstract","authors":"","doi":"10.1111/iji.12587","DOIUrl":"10.1111/iji.12587","url":null,"abstract":"&lt;p&gt;&lt;b&gt;&lt;span&gt;Christopher Byrnes&lt;/span&gt;&lt;/b&gt;&lt;sup&gt;1&lt;/sup&gt;, Andrew Hastings&lt;sup&gt;2&lt;/sup&gt;, Ira Lacej&lt;sup&gt;2&lt;/sup&gt;, Renuka Palanicawandar&lt;sup&gt;2&lt;/sup&gt;, Eduardo Olavarria&lt;sup&gt;2&lt;/sup&gt;, Arthi Anand&lt;sup&gt;1&lt;/sup&gt;&lt;/p&gt;&lt;p&gt;&lt;i&gt;&lt;sup&gt;1&lt;/sup&gt;Histocompatbility and Immunogenetics, North West London Pathology, London, UK; &lt;sup&gt;2&lt;/sup&gt;Department of Haematology, Imperial College Healthcare NHS Trust, London, UK&lt;/i&gt;&lt;/p&gt;&lt;p&gt;Relapse is a major cause of treatment failure in haploidentical haematopoietic progenitor cell transplant (HPCT) with PTCy. Natural killer cells are the first to reconstitute post HSCT, suppressing graft versus host disease and mediating the graft versus leukaemia effect, driven by killer cell immunoglobulin-like receptors (KIRs). Emerging research suggests that donor KIR genotype may influence outcomes of haploidentical HPCT. Haploidentical donors are readily available, and donor selection could hinge on predicted KIR NK cell alloreactivity. This study investigates whether donors with greater KIR B motifs associate with greater relapse free survival (RFS), overall survival (OS), non-relapse mortality (NRM), acute graft versus host disease (GvHD) and infection.&lt;/p&gt;&lt;p&gt;Following KIR genotyping, seventy-seven haploidentical donor recipient pairs (myeloablative &lt;i&gt;n&lt;/i&gt; = 30, RIC &lt;i&gt;n&lt;/i&gt; = 47) with various haematological malignancies are categorised into neutral (&lt;i&gt;n&lt;/i&gt; = 49) or better and best (&lt;i&gt;n&lt;/i&gt; = 28), using KIR B motif content. Kaplan-Meier and Cox Regression survival functions are performed to investigate associations with potential outcomes.&lt;/p&gt;&lt;p&gt;Our results show that the better and best category has significantly reduced RFS (&lt;i&gt;p&lt;/i&gt; = .004) (HR 4.13, 95% CI 1.45–11.74: &lt;i&gt;p&lt;/i&gt; = .008) and trend towards greater infections (&lt;i&gt;p&lt;/i&gt; = .080) (HR 2.09, 95% CI 0.90–4.84: &lt;i&gt;p&lt;/i&gt; &lt; .1), decreasing OS (&lt;i&gt;p&lt;/i&gt; = .008) (HR2.44, 95% confidence interval [CI] 1.24–4.81: &lt;i&gt;p&lt;/i&gt; = .01), without impacting GvHD or NRM.&lt;/p&gt;&lt;p&gt;In our study, neutral donor outcomes are favourable in T cell depleted haplo-HPCT, potentially due to alloresponsive donor NK cells being targeted by immunosuppressive PTCy treatment delaying reconstitution. Further studies focusing on a homogenous pathology and treatment modality would determine the utility of KIR B content calculator in haploidentical donor selection.&lt;/p&gt;&lt;p&gt;&lt;b&gt;&lt;span&gt;Miss Rebecca Cope&lt;/span&gt;&lt;/b&gt;&lt;sup&gt;1,2&lt;/sup&gt;, Rhea McArdle&lt;sup&gt;1,2&lt;/sup&gt;, Veena Surendrakumar&lt;sup&gt;3&lt;/sup&gt;, Afzal Chaudhry&lt;sup&gt;1,4&lt;/sup&gt;, Vasilis Kosmoliaptsis&lt;sup&gt;3&lt;/sup&gt;, Gavin Pettigrew&lt;sup&gt;3&lt;/sup&gt;, Stephen Pettit&lt;sup&gt;5&lt;/sup&gt;, Peter Riddle&lt;sup&gt;5&lt;/sup&gt;, Sarah Peacock&lt;sup&gt;1&lt;/sup&gt;&lt;/p&gt;&lt;p&gt;&lt;i&gt;&lt;sup&gt;1&lt;/sup&gt;Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; &lt;sup&gt;2&lt;/sup&gt;Faculty of Biology, Medicine and Health, Division of Medical Education, School of Medical Sciences, The University of Manchester, Manchester, UK; &lt;sup&gt;3&lt;/sup&gt;Department of Surgery, University of Cambridge, Cambridge, UK; &lt;sup&gt;4&lt;/sup&gt;Department of Medici","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 S1","pages":"3-9"},"PeriodicalIF":2.2,"publicationDate":"2022-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12587","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49143208","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":"Poster Abstract","authors":"","doi":"10.1111/iji.12586","DOIUrl":"10.1111/iji.12586","url":null,"abstract":"&lt;p&gt;&lt;b&gt;&lt;span&gt;Anthony Calvert&lt;/span&gt;&lt;/b&gt;&lt;sup&gt;1&lt;/sup&gt;, Anthony Poles&lt;sup&gt;1&lt;/sup&gt;, Matthew Hopkins&lt;sup&gt;1&lt;/sup&gt;, Tim Hayes&lt;sup&gt;2&lt;/sup&gt;&lt;/p&gt;&lt;p&gt;&lt;i&gt;&lt;sup&gt;1&lt;/sup&gt;NHS Blood and Transplant, Filton, UK; &lt;sup&gt;2&lt;/sup&gt;Manchester University NHS Foundation Trust, UK&lt;/i&gt;&lt;/p&gt;&lt;p&gt;Heparin induced thrombocytopenia (HIT) is a rare complication of heparin therapy with mild thrombocytopenia but potentially fatal thrombosis. HIT antibodies target the epitope of platelet factor 4 (PF4) and heparin. Laboratory investigations commonly detect antibodies by ELISA. The British Society for Haematology guidelines suggest clinical significant IgG antibodies equate to an OD &gt; 1.0. Studies show an OD ≥ 1.4 corresponds with ≥50% chance of positive serotonin release assay (SRA) (Warkentin et al. J Thromb Haemost 2008; 6(8):1304-12).&lt;/p&gt;&lt;p&gt;Common practice for a HIT positive patient is repeat testing until a negative result indicates the safe use of Heparin, which is then administered pre-procedure and ceased immediately afterwards. Conditioning includes antibody titre reduction by plasmapheresis, multiple sessions are costly and can delay surgery. PF4/heparin antibodies are detected in 5-22% cardiac surgery patients but only 1%–2% have HIT (Pishko et al. Semin Thromb Hemost 2017; 43(7): 691-698).&lt;/p&gt;&lt;p&gt;A HIT positive pre-transplant patient was tested after each plasmapheresis using ELISA (Immucor HAT45G) and a platelet activation assay (IQ Products HITAlert) to compare HIT antibody levels with ability to activate platelets. Results showed an OD &gt; 1.4 associated with positive activation, comparable to Warkentin's observations. The advantage of HITAlert is it detects functional antibodies and measures the expression of activation markers by flow cytometry, not radiolabelled serotonin release. The assay is then suitable for use in the routine laboratory environment, but requires freshly isolated (&lt;2 h) ABO O platelets.&lt;/p&gt;&lt;p&gt;The patient received a successful heart transplant after the first negative activation result, sooner than waiting for negative ELISA results.&lt;/p&gt;&lt;p&gt;&lt;b&gt;&lt;span&gt;Carla Rosser&lt;/span&gt;&lt;/b&gt;&lt;sup&gt;1&lt;/sup&gt;, Deborah Sage&lt;sup&gt;1&lt;/sup&gt;&lt;/p&gt;&lt;p&gt;&lt;i&gt;&lt;sup&gt;1&lt;/sup&gt;NHS Blood and Transplant, Tooting, UK&lt;/i&gt;&lt;/p&gt;&lt;p&gt;The use of antibody-epitope analysis tools can improve the interpretation of in vitro HLA antibody identification assay data, particularly for identification of false positive reactions. HLA antibody-epitope analysis using HLAMatchmaker was performed on 22 crossmatched sera where donor-specific antibody (DSA) had previously been identified by One Lambda LABScreen™ Single Antigen (LABScreen). These sera were retrospectively tested by Immucor LIFECODES LSA (LIFECODES) and BAG Healthcare HISTO SPOT® (HISTO SPOT) assays.&lt;/p&gt;&lt;p&gt;All three HLA antibody identification assays identified DSA in serum that did not cause a positive flow-cytometric crossmatch (FCXM). Antibody-epitope analysis supports the presence of DSA in 12/22 of these sera, indicating a higher sensitivity of the solid ph","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 S1","pages":"10-20"},"PeriodicalIF":2.2,"publicationDate":"2022-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12586","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"62685207","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":"Genetic associations with lymphomas in Polish patients: A pooled-DNA genome-wide association analysis","authors":"Ewa Paszkiewicz-Kozik,&nbsp;Anna Kluska,&nbsp;Magdalena Piątkowska,&nbsp;Aneta Bałabas,&nbsp;Natalia Żeber-Lubecka,&nbsp;Jakub Karczmarski,&nbsp;Krzysztof Goryca,&nbsp;Maria Kulecka,&nbsp;Elżbieta Wojciechowska-Lampka,&nbsp;Włodzimierz Osiadacz,&nbsp;Joanna Romejko-Jarosińska,&nbsp;Monika Świerkowska,&nbsp;Agnieszka Paziewska,&nbsp;Filip Ambrożkiewicz,&nbsp;Jan Walewski,&nbsp;Michał Mikula,&nbsp;Jerzy Ostrowski","doi":"10.1111/iji.12596","DOIUrl":"10.1111/iji.12596","url":null,"abstract":"<p>Several single nucleotide polymorphisms (SNPs) associated with susceptibility to Hodgkin lymphoma (HL) and diffuse large B-cell lymphoma (DLBCL) have been identified. The aim of this study was to identify susceptibility loci for HL and DLBCL in Polish patients. Altogether, DLBCL (<i>n</i> = 218 and HL patients (<i>n</i> = 224) and healthy individuals (<i>n</i> = 1181) were recruited. Lymphoma diagnosis was based on standard criteria. Genome-wide association study (GWAS) was performed using pooled-DNA samples on llumina Infinium Omni2.5 Exome-8 v1.3, and selected loci were replicated by TaqMan SNP genotyping of individuals. GWAS detected thirteen and seven SNPs associated with DLBCL and HL, respectively. In the replication study, six and seven SNPs reached significance after correction for multiple testing in the DLBCL and HL cohorts, respectively. One and four SNPs associated with DLBCL and HL, respectively, were localized within, and two SNPs—near the major histocompatibility complex (MHC) region. In conclusion, the majority of loci associated with HL and DLBCL aetiology in previous studies have potential roles in immune function. Our pooled-DNA GWAS enabled the identification of several susceptibility loci for DLBCL and HL in the Polish population; some of them were mapped within or adjacent to the MHC, and other associated SNPs were located outside the MHC.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 5","pages":"353-363"},"PeriodicalIF":2.2,"publicationDate":"2022-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33445118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between the interferon-γ +874 T/A polymorphism and susceptibility to systemic lupus erythematosus and rheumatoid arthritis: A meta-analysis","authors":"Young Ho Lee,&nbsp;Gwan Gyu Song","doi":"10.1111/iji.12599","DOIUrl":"10.1111/iji.12599","url":null,"abstract":"<p>We aimed to determine whether the interferon (IFN)<i>-γ</i> +874 T/A polymorphism (rs2430561) is associated with susceptibility to systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). A meta-analysis was conducted to assess the association between the IFN<i>-γ</i> +874 T/A polymorphism and SLE or RA using allele contrast, homozygous contrast, recessive, and dominant models. A total of nine studies (six on SLE and three on RA), involving 1839 patients and 2272 controls, were included in the meta-analysis. The meta-analysis revealed a significant association between SLE and the TT genotype of the IFN<i>-γ</i> +874 T/A polymorphism (odds ratio [OR] = 0.751, 95% confidence interval [CI] = 0.634–0.899, <i>p</i> = .001), and stratification by ethnicity indicated an association between the IFN<i>-γ</i> +874 TT genotype and the Asian population. The analysis also revealed a significant association between SLE and the TT + TA genotype of the IFN<i>-γ</i> +874 T/A polymorphism in Arab populations (OR = 1.598, 95% CI = 1.053–2.425, <i>p</i> = .028). However, no association between the IFN<i>-γ</i> +874 T/A polymorphism and RA was found using allele contrast, recessive, dominant or homozygous contrast models in all study subjects and ethnic groups. This meta-analysis demonstrated that the IFN<i>-γ</i> +874 T/A polymorphism is associated with susceptibility to SLE in Asian and Arab populations.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 6","pages":"365-371"},"PeriodicalIF":2.2,"publicationDate":"2022-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12599","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"33441676","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":"Genetic epidemiology of human neutrophil antigen variants suggests significant global variability","authors":"Mercy Rophina,&nbsp;Vinod Scaria","doi":"10.1111/iji.12597","DOIUrl":"10.1111/iji.12597","url":null,"abstract":"<p>Human neutrophil antigens possess significant clinical implications especially in the fields of transfusion and transplantation medicine. Efforts to estimate the prevalence of genetic variations underpinning the antigenic expression are emerging. However, there lacks a precise capture of the global frequency profiles. Our article emphasizes the potential utility of maintaining an organized online repository of evidence on neutrophil antigen-associated genetic variants from published literature and reports. This, in our opinion, is an emerging area and would significantly benefit from the awareness and understanding of population-level diversities.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 5","pages":"345-352"},"PeriodicalIF":2.2,"publicationDate":"2022-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40421076","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Angiotensin-converting enzyme 2 rs2285666 polymorphism and clinical parameters as the determinants of COVID-19 severity in Iranian population","authors":"Fereshteh Khalilzadeh,&nbsp;Fatemeh Sakhaee,&nbsp;Fattah Sotoodehnejadnematalahi,&nbsp;Mohammad Saber Zamani,&nbsp;Iraj Ahmadi,&nbsp;Enayat Anvari,&nbsp;Abolfazl Fateh","doi":"10.1111/iji.12598","DOIUrl":"10.1111/iji.12598","url":null,"abstract":"<p>Host genetic factors may be correlated with the severity of coronavirus disease 2019 (COVID-19). Angiotensin-converting enzyme 2 (ACE2) plays a vital role in viral cell entrance. The current study aimed to evaluate the association of <i>ACE2</i> rs2285666 polymorphism and clinical parameters with COVID-19 mortality. The <i>ACE2</i> rs2285666 polymorphism was genotyped using the polymerase chain reaction-restriction fragment length polymorphism in 556 recovered and 522 dead patients. In this study, the frequency of <i>ACE2</i> rs2285666 CC was significantly higher than TT genotype in dead patients. The multivariate logistic regression analysis results showed that the higher levels of alanine aminotransferase, alkaline phosphatase, creatinine, erythrocyte sedimentation rate, and C-reactive protein and the low levels of uric acid, cholesterol, low density lipoprotein, 25-hydroxyvitamin D, real-time PCR Ct values, and <i>ACE2</i> rs2285666 CC genotype were associated with increased mortality rates after COVID-19. In conclusion, our findings demonstrated a possible link between COVID-19 mortality, clinical parameters, and <i>ACE2</i> rs2285666 CC. Further research is required to confirm these results.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 5","pages":"325-332"},"PeriodicalIF":2.2,"publicationDate":"2022-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9539076/pdf/IJI-49-325.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40421078","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":"An early evaluation of the HISTO SPOT® AB ID Class I & II test in cardiothoracic transplant patients","authors":"James Cashin,&nbsp;Patrick Flynn,&nbsp;Judith Worthington,&nbsp;Marcus Lowe,&nbsp;Andrew Canterbury,&nbsp;Kristin Launhardt,&nbsp;Ian Crosby,&nbsp;Stephen Sheldon,&nbsp;Rajamiyer Venkateswaran,&nbsp;Kay Poulton","doi":"10.1111/iji.12595","DOIUrl":"10.1111/iji.12595","url":null,"abstract":"<p>The HISTO SPOT^®AB ID assay (BAG Diagnostics GmbH) is a novel single antigen HLA Class I &amp; II antibody definition test used with the MR.SPOT^® processor. We compared this assay with Luminex^®-based assays to assess its potential application in defining unacceptable antigens for transplantation in patients awaiting transplants with cardiothoracic organs. A cohort of 40 sensitized cardiothoracic patients were identified, and one sample was selected from each patient. The required screening was based on the patients’ antibody profiles (Class I, <i>n</i> = 17, Class II, <i>n</i> = 11, Class I &amp; II, <i>n</i> = 12). Samples were screened with LABScreen™ Single Antigen (SAg), LIFECODES^® LSA™, HISTO SPOT^® AB ID, and an acid modified LABScreen™ SAg test for detecting antibodies against denatured HLA. Results indicated that HISTO SPOT^® AB ID had reduced sensitivity (68% for Class I; 69% for Class II). When compared to LABScreen™ and LIFECODES^®, HISTO SPOT^® AB ID failed to detect Luminex^®-defined antibodies with median fluorescence intensity (MFI) ranging from 1114 to 24,489. The HISTO SPOT^® AB ID panel used in the study had reduced antigen representation compared with Luminex^®-based assays which further compromised its capacity for antibody detection and definition. Further work is needed to evaluate the clinical relevance of these differences between the performance of HISTO SPOT^® and Luminex^®-based methods.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 5","pages":"317-324"},"PeriodicalIF":2.2,"publicationDate":"2022-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40626303","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High-resolution HLA class II sequencing of Swedish multiple sclerosis patients","authors":"Omar Akel,&nbsp;Lue Ping Zhao,&nbsp;Daniel E Geraghty,&nbsp;Alexander Lind","doi":"10.1111/iji.12594","DOIUrl":"10.1111/iji.12594","url":null,"abstract":"<p>Multiple sclerosis (MS) is a chronic neurological disease believed to be caused by autoimmune pathogenesis. The aetiology is likely explained by a complex interplay between inherited and environmental factors. Genetic investigations into MS have been conducted for over 50 years, yielding &gt;100 associations to date. Globally, the strongest linkage is with the human leukocyte antigen (HLA) <i>HLA-DRB5*01:01:01-DRB1*15:01:01-DQA1*01:02:01-DQB1*06:02:01</i> haplotype.</p><p>Here, high-resolution sequencing of HLA was used to determine the alleles of <i>DRB3</i>, <i>DRB4</i>, <i>DRB5</i>, <i>DRB1</i>, <i>DQA1</i>, <i>DQB1</i>, <i>DPA1</i> and <i>DPB1</i> as well as their extended haplotypes and genotypes in 100 Swedish MS patients. Results were compared to 636 population controls.</p><p>The heterogeneity in HLA associations with MS was demonstrated; among 100 patients, 69 extended <i>HLA-DR-DQ</i> genotypes were found. Three extended <i>HLA-DR-DQ</i> genotypes were found to be correlated to MS; <i>HLA-DRB5*01:01:01-DRB1*15:01:01-DQA1*01:02:01-DQB1*06:02:01</i> haplotype together with</p><p>(A) <i>HLA-DRB4*01:01:01//DRB4*01:01:01:01-DRB1*07:01:01-DQA1*02:01//02:01:01-DQB1*02:02:01</i>,</p><p>(B) <i>HLA-DRBX*null-DRB1*08:01:01-DQA1*04:01:01-DQB1*04:02:01</i>, and</p><p>(C) <i>HLA-DRB3*01:01:02-DRB1*03:01:01-DQA1*05:01:01-DQB1*02:01:01</i>.</p><p>At the allelic level, <i>HLA-DRB3*01:01:02</i> was considered protective against MS. However, when combined with <i>HLA-DRB3*01:01:02-DRB1*03:01:01-DQA1*05:01:01-DQB1*02:01:01</i>, this extended haplotype was considered a predisposing risk factor. This highlights the limitations as included with investigations of single alleles relative to those of extended haplotypes/genotypes.</p><p>In conclusion, with 69 genotypes presented among 100 patients, high-resolution sequencing was conducted to underscore the wide polymorphisms present among MS patients. Additional studies in larger cohorts will be of importance to define MS among the patient group not associated with <i>HLA-DRB5*01:01:01-DRB1*15:01:01-DQA1*01:02:01-DQB1*06:02:01</i>.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 5","pages":"333-339"},"PeriodicalIF":2.2,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545082/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40692544","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}