Nengbo Lin, Hua Lu, Xiaoling Cheng, Ya Zhao, Qin Wan, Yi Luo, Ying Miao, Xue Bai, Dan Liu, Chao Wang
{"title":"Association between the interleukin-1B polymorphism at rs16944 T>C and diabetic retinopathy","authors":"Nengbo Lin, Hua Lu, Xiaoling Cheng, Ya Zhao, Qin Wan, Yi Luo, Ying Miao, Xue Bai, Dan Liu, Chao Wang","doi":"10.1111/iji.12604","DOIUrl":"10.1111/iji.12604","url":null,"abstract":"<p>Diabetic retinopathy (DR) is a common microvascular complication of diabetes and the leading cause of blindness at working age. DR is considered to be a chronic low-grade inflammatory subclinical disease, and its pathogenesis is related to genetic and environmental factors. Interleukin (IL)-1 is an important inflammatory cytokine. An association between DR and the rs16944 (<i>IL-1B-511</i>) T>C gene polymorphism has not been reported. The aim of this study was to investigate the association between the rs16944 T>C gene polymorphism and DR in the Han population in southwest China. Participants in this study were 272 patients with DR, 274 patients with type 2 diabetes mellitus (T2DM), and 335 healthy controls (NC). The polymerase chain reaction-restriction fragment length polymorphism method was used to detect the rs16944 T>C genotype of participants. The distribution frequencies of the rs16944 T>C genotype and allele were significantly different among the three groups (<i>p</i> < .05). The distribution frequency of TT, CT, CC genotype (χ<sup>2</sup> = 9.893, <i>p</i> = .007; χ<sup>2</sup> = 6.567, <i>p</i> = .037) and each allele (χ<sup>2</sup> = 5.585, <i>p</i> = .018; χ<sup>2</sup> = 9.187, <i>p</i> = .002) in the DR group was significantly different from the NC and T2DM groups, respectively. Logistic regression analysis showed that the TT + CT genotype was a risk factor for DR, with an odds ratio of 1.731 (95% confidence interval 1.140–2.627, <i>p</i> = .01). The rs16944 T>C gene polymorphism may be associated with DR, and the TT+CT genotype may increase the risk of DR.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 1","pages":"34-40"},"PeriodicalIF":2.2,"publicationDate":"2022-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10556879","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 gene polymorphisms of IL-12, IL-12 receptor and IL-27 and organ involvement in Iranian endometriosis patients","authors":"Maryam Zare, Fatemeh Hesampour, Tahereh Poordast, Maryam Valibeigi, Maliheh Enayatmehri, Sahar Ahmadi, Fatemeh Nasri, Behrouz Gharesi-Fard","doi":"10.1111/iji.12606","DOIUrl":"10.1111/iji.12606","url":null,"abstract":"<p>Endometriosis is an inflammatory disease characterized by the presence of ectopic endometrial tissue, immune cell dysfunction and abnormal cytokine secretion. In addition to immunological factors, genetic variations that influence endometriosis severity and cytokine expression levels play important roles in the pathogenesis of this disease. Interleukin-12 (IL-12), specifically its p40 subunit encoded by IL-12B gene and the interleukin-12 receptor β1 (IL-12Rβ2) chain of its receptor, as well as interleukin-27 (IL-27) are important in the establishment of endometriosis. So, in this study, we measured IL-12 and IL-27 serum levels and investigated the possible links between IL-12B rs3212227, IL-12Rβ2 rs3790565 and IL-27 rs153109 polymorphisms and the risk of developing endometriosis in a group of Iranian women. In this case-control study, 162 endometriosis patients and 151 healthy women were included and tested for the aforementioned polymorphisms using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The enzyme-linked immunosorbent assay (ELISA) method was also used to measure IL-12 and IL-27 serum levels. Although there was no statistically significant association between the genotypes and alleles of the studied polymorphisms and the development of endometriosis in general, the AA genotype of IL-12B rs3212227 showed a significant association with uterine endometriosis when compared to AC+CC genotypes (<i>p</i> = .04, CI = 0.270–0.988, OR = 0.517). Indeed, the AA genotype of the IL-12B rs3212227 single nucleotide polymorphism (SNP) may be linked with a lower risk of developing uterine endometriosis. There was no significant difference in IL-27 levels between the two studied groups (<i>p</i> = .49), and IL-12 levels were undetectable in both groups. In conclusion, the AA genotype of IL-12B rs3212227 might be associated with a decreased risk of uterine involvement in endometriosis patients.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 1","pages":"24-33"},"PeriodicalIF":2.2,"publicationDate":"2022-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10491593","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}
Shrikant Verma, Sushma Verma, Faizan Haider Khan, Zeba Siddiqi, Syed Tasleem Raza, Mohammad Abbas, Farzana Mahdi
{"title":"Genetic polymorphisms of IL6 gene –174G > C and –597G > A are associated with the risk of COVID-19 severity","authors":"Shrikant Verma, Sushma Verma, Faizan Haider Khan, Zeba Siddiqi, Syed Tasleem Raza, Mohammad Abbas, Farzana Mahdi","doi":"10.1111/iji.12605","DOIUrl":"10.1111/iji.12605","url":null,"abstract":"<p>Coronavirus disease-2019 (COVID-19) is pro-inflammatory disorder characterized by acute respiratory distress syndrome. Interleukin-6, a cytokine secreted by macrophages, which mediates an inflammatory response, is frequently increased and associated with the severity in COVID-19 patients. The differential expression of <i>IL6</i> cytokine in COVID-19 patients may be associated with the presence of single nucleotide polymorphisms (SNPs) in regulatory region of cytokine genes. The aim of this study is to investigate the role of two promoter polymorphisms of the <i>IL6</i> gene (–597G > A and –174G > C) with the severity of COVID-19. The study included 242 patients, out of which 97 patients with severe symptoms and 145 patients with mild symptoms of COVID-19. Genotyping of two selected SNPs, rs1800795 (–174G > C) and rs1800797 (–597G > A) of promoter region of <i>IL6</i> gene, was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). In our study, individuals with GC genotypes of <i>IL6</i> (–174G > C) polymorphism showed significantly higher risk of severity [adjusted odds (OR) 3.86, <i>p</i> <.001] but we did not observe any association of COVID-19 severity with rs1800797 (–597G > A) polymorphism. The COVID-19 severity was significantly higher in individuals having ‘C’ allele of <i>IL6</i> (–174G > C) polymorphism (<i>p</i> = .014). Linkage disequilibrium between rs1800795 (–174G > C) and rs1800797 (–597G > A) showed that individuals having AC* haplotype significantly association with COVID-19 severity (<i>p</i> = .034). Our results suggest that ‘C’ allele of rs1800795 (–174G > C) polymorphism of <i>IL6</i> may be the risk allele for severity of COVID-19 in North Indian population.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 1","pages":"5-11"},"PeriodicalIF":2.2,"publicationDate":"2022-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9878250/pdf/IJI-50-5.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9840475","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":"Nomenclature for factors of the HLA system, update July, August and September 2022","authors":"Steven G. E. Marsh","doi":"10.1111/iji.12603","DOIUrl":"10.1111/iji.12603","url":null,"abstract":"The following sequences have been submitted to the Nomenclature Committee since the April, May and June 2022 nomenclature update (Marsh, 2022) and, following agreed policy, have been assigned official allele designations (Marsh et al., 2010). Full details of all sequenceswill be published in a forthcoming report. Below are listed the newly assigned sequences (Table 1) and confirmations of previously reported sequences (Table 2). The accession number of each sequence is given and these can be used to retrieve the sequence files from the EMBL, GenBank or DDBJ data libraries. Although accession numbers have been assigned by the data libraries and most sequences are already available, there is still the possibility that an author may not yet have allowed the sequence to be released; in such a case, you will have to contact the submitting author directly. Additional information pertaining to new sequences is often included in the publications describing these alleles; a listing of recent publications that describe new HLA sequences is given in Table 3.","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 6","pages":"385-416"},"PeriodicalIF":2.2,"publicationDate":"2022-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40676276","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":"Study of HLA class II loci reveals DQB1*03:03:02 as a risk factor for asthma in a Pakistani population","authors":"Nusrat Saba, Ghazala Kaukab Raja, Osman Yusuf, Sadia Rehman, Saeeda Munir, Sumaira Sajjad, 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}
Stéphanie Gomes Santos de Almeida, Fabiana Batalha Knakcfuss, Lívia Maria Assis, Regina Celia Gonçalves de Sousa, Tereza Azevedo Matuck, Deise de Boni Monteiro de Carvalho, Ricardo Luiz Dantas Machado, Maria Angelica Arpon Marandino Guimarães, Rafael Brandão Varella
{"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, Fabiana Batalha Knakcfuss, Lívia Maria Assis, Regina Celia Gonçalves de Sousa, Tereza Azevedo Matuck, Deise de Boni Monteiro de Carvalho, Ricardo Luiz Dantas Machado, Maria Angelica Arpon Marandino Guimarães, 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 > 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":"<p><b><span>Christopher Byrnes</span></b><sup>1</sup>, Andrew Hastings<sup>2</sup>, Ira Lacej<sup>2</sup>, Renuka Palanicawandar<sup>2</sup>, Eduardo Olavarria<sup>2</sup>, Arthi Anand<sup>1</sup></p><p><i><sup>1</sup>Histocompatbility and Immunogenetics, North West London Pathology, London, UK; <sup>2</sup>Department of Haematology, Imperial College Healthcare NHS Trust, London, UK</i></p><p>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.</p><p>Following KIR genotyping, seventy-seven haploidentical donor recipient pairs (myeloablative <i>n</i> = 30, RIC <i>n</i> = 47) with various haematological malignancies are categorised into neutral (<i>n</i> = 49) or better and best (<i>n</i> = 28), using KIR B motif content. Kaplan-Meier and Cox Regression survival functions are performed to investigate associations with potential outcomes.</p><p>Our results show that the better and best category has significantly reduced RFS (<i>p</i> = .004) (HR 4.13, 95% CI 1.45–11.74: <i>p</i> = .008) and trend towards greater infections (<i>p</i> = .080) (HR 2.09, 95% CI 0.90–4.84: <i>p</i> < .1), decreasing OS (<i>p</i> = .008) (HR2.44, 95% confidence interval [CI] 1.24–4.81: <i>p</i> = .01), without impacting GvHD or NRM.</p><p>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.</p><p><b><span>Miss Rebecca Cope</span></b><sup>1,2</sup>, Rhea McArdle<sup>1,2</sup>, Veena Surendrakumar<sup>3</sup>, Afzal Chaudhry<sup>1,4</sup>, Vasilis Kosmoliaptsis<sup>3</sup>, Gavin Pettigrew<sup>3</sup>, Stephen Pettit<sup>5</sup>, Peter Riddle<sup>5</sup>, Sarah Peacock<sup>1</sup></p><p><i><sup>1</sup>Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK; <sup>2</sup>Faculty of Biology, Medicine and Health, Division of Medical Education, School of Medical Sciences, The University of Manchester, Manchester, UK; <sup>3</sup>Department of Surgery, University of Cambridge, Cambridge, UK; <sup>4</sup>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":"<p><b><span>Anthony Calvert</span></b><sup>1</sup>, Anthony Poles<sup>1</sup>, Matthew Hopkins<sup>1</sup>, Tim Hayes<sup>2</sup></p><p><i><sup>1</sup>NHS Blood and Transplant, Filton, UK; <sup>2</sup>Manchester University NHS Foundation Trust, UK</i></p><p>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 > 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).</p><p>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).</p><p>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 > 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 (<2 h) ABO O platelets.</p><p>The patient received a successful heart transplant after the first negative activation result, sooner than waiting for negative ELISA results.</p><p><b><span>Carla Rosser</span></b><sup>1</sup>, Deborah Sage<sup>1</sup></p><p><i><sup>1</sup>NHS Blood and Transplant, Tooting, UK</i></p><p>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.</p><p>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}
Ewa Paszkiewicz-Kozik, Anna Kluska, Magdalena Piątkowska, Aneta Bałabas, Natalia Żeber-Lubecka, Jakub Karczmarski, Krzysztof Goryca, Maria Kulecka, Elżbieta Wojciechowska-Lampka, Włodzimierz Osiadacz, Joanna Romejko-Jarosińska, Monika Świerkowska, Agnieszka Paziewska, Filip Ambrożkiewicz, Jan Walewski, Michał Mikula, Jerzy Ostrowski
{"title":"Genetic associations with lymphomas in Polish patients: A pooled-DNA genome-wide association analysis","authors":"Ewa Paszkiewicz-Kozik, Anna Kluska, Magdalena Piątkowska, Aneta Bałabas, Natalia Żeber-Lubecka, Jakub Karczmarski, Krzysztof Goryca, Maria Kulecka, Elżbieta Wojciechowska-Lampka, Włodzimierz Osiadacz, Joanna Romejko-Jarosińska, Monika Świerkowska, Agnieszka Paziewska, Filip Ambrożkiewicz, Jan Walewski, Michał Mikula, 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, 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}