International Journal of Immunogenetics最新文献

{"title":"Oral Abstracts","authors":"","doi":"10.1111/iji.12630","DOIUrl":"https://doi.org/10.1111/iji.12630","url":null,"abstract":"<p><b><span>Alison Cleaton</span></b>, <i>Emma Burrows, Kimberley Robinson, Michael Richardson, Deborah Pritchard, Tracey Rees</i></p><p><i>Welsh Blood Service, Ely Valley Road, Talbot Green, UK</i></p><p>Regular HLA antibody testing is undertaken for patients awaiting renal transplantation, using LABScreen™ HLA antibody assays. During the COVID-19 pandemic, we observed unexplained changes to some HLA antibody profiles. Investigation revealed that several patients had COVID-19 prior to the changes, therefore, a review of all patients on the transplant waiting list with known COVID-19 infection was undertaken. Sixty-six out of two hundred thirty-seven patients on the transplant waiting list had COVID-19 (March 2020–July 2022). The HLA antibody results from samples prior to and following COVID-19 infection were analysed for changes in existing HLA antibody levels (increased Luminex Median Fluorescent Intensity (MFI) values), or expanded antibody profiles (increased cRF). Fifty-two (78.8%) patients had no detectable change in cRF or MFI; five (7.6%) had changes in MFI (but no change in cRF); nine (13.6%) had changes in MFI and cRF. Two out of nine patients had no recorded prior sensitisation event; four had a previous transplant, four blood transfusions, four pregnancy; and three multiple sensitising events. All nine patients had sustained cRF changes in subsequent samples (follow up to December 2022). Three out of nine patients were consequently identified as having altered immunosuppression due to the COVID-19 infection; these patients had a 20%–76% rise in cRF and now all have a cRF 98%–100%. While the majority of patients awaiting kidney, transplantation had no change to their HLA antibody profile following COVID-19 infection, nine patients had an increase in cRF, which has not been transient. Reduction or withdrawal of immunosuppression to aid recovery from COVID-19 was identified as the cause for three patients.</p><p><b><span>Adrienne Seitz</span></b>, <i>Clive Carter, Brendan Clark, Richard Baker</i></p><p><i>Leeds Teaching Hospitals NHS Trust, Leeds, UK</i></p><p>The level of pre-transplant immune risk is assessed through measuring serum IgG HLA antibodies which can be produced by long lived plasma cells and memory B-cells. Memory B-cells can circulate without producing antibodies, therefore their contribution to the antibody pool may not be fully appreciated. We describe an in vitro method for improving the assessment of pretransplant risk through the non-specific stimulation of peripheral memory B-cells. Peripheral blood mononuclear cells from three unsensitised volunteers and six sensitised patients were cultured for 9 days with the toll-like receptor agonist R848 and interleukin-2. Cell culture supernatant was tested for IgG HLA antibodies using single antigen beads. This was compared with a matched serum sample. Resting Day-0 and stimulated Day-9 B-cell phenotypes were assessed using flow cytometry, confirming the switch to antibody se","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 S1","pages":"3-15"},"PeriodicalIF":2.2,"publicationDate":"2023-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12630","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50130562","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":"Epigenome-wide methylation haplotype association analysis identified HLA-DRB1, HLA-DRB5 and HLA-DQB1 as risk factors for rheumatoid arthritis","authors":"Jing Xu,&nbsp;Haiyan Chen,&nbsp;Chen Sun,&nbsp;Siyu Wei,&nbsp;Junxian Tao,&nbsp;Zhe Jia,&nbsp;Xingyu Chen,&nbsp;Wenhua Lv,&nbsp;Hongchao Lv,&nbsp;Guoping Tang,&nbsp;Yongshuai Jiang,&nbsp;Mingming Zhang","doi":"10.1111/iji.12637","DOIUrl":"10.1111/iji.12637","url":null,"abstract":"<p>The aim of this study was to compare nonrandom associations between physically adjacent single methylation polymorphism loci among rheumatoid arthritis (RA) and normal subjects for investigating RA-risk methylation haplotypes (meplotype). With 354 ACPA-positive RA patients and 335 normal controls selected from a case–control study based on Swedish population, we conducted the first RA epigenome-wide meplotype association study using our software EWAS2.0, mainly including (i) converted the β value to methylation genotype (menotype) data, (ii) identified methylation disequilibrium (MD) block, (iii) calculated frequent of each meplotypes in MD block and performed case–control association test and (iv) screened for RA-risk meplotypes by odd ratio (OR) and <i>p</i>-values. Ultimately, 545 meplotypes on 334 MD blocks were identified significantly associated with RA (<i>p</i>-value &lt; .05). These meplotypes were mapped to 329 candidate genes related to RA. Subsequently, combined with gene optimization, eight RA-risk meplotypes were identified on three risk genes: HLA-DRB1, HLA-DRB5 and HLA-DQB1. Our results reported the relationship between DNA methylation pattern on HLA-DQB1 and the risk of RA for the first time, demonstrating the co-demethylation of ‘cg22984282’ and ‘cg13423887’ on HLA-DQB1 gene (meplotype UU, <i>p</i>-value = 2.90E − 6, OR = 1.68, 95% CI = [1.35, 2.10]) may increase the risk of RA. Our results demonstrates the potential of methylation haplotype analysis to identify RA-related genes from a new perspective and its applicability to the study of other disease.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 6","pages":"291-298"},"PeriodicalIF":2.2,"publicationDate":"2023-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10542257","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":"HLA-G 3′UTR haplotype analyses in HCV infection and HCV-derived cirrhosis, hepatocellular carcinoma and fibrosis","authors":"Julio Daimar Oliveira Correa,&nbsp;Francis Maria Báo Zambra,&nbsp;Rafael Tomoya Michita,&nbsp;Mário Reis Álvares-da-Silva,&nbsp;Daniel Simon,&nbsp;José Artur Bogo Chies","doi":"10.1111/iji.12636","DOIUrl":"10.1111/iji.12636","url":null,"abstract":"<p>Hepatitis C virus (HCV) infection is a major cause of chronic liver disease. Chronic HCV infection is also an important cause of hepatic fibrosis, cirrhosis and hepatocellular carcinoma (HCC). HCV has the capacity to evade immune surveillance by altering the host immune response. Moreover, variations in immune-related genes can lead to differential susceptibility to HCV infection as well as interfere on the susceptibility to the development of hepatic fibrosis, cirrhosis and HCC. The human leucocyte antigen G (<i>HLA-G</i>) gene codes for an immunomodulatory protein known to be expressed in the maternal–foetal interface and in immune-privileged tissues. The <i>HLA-G</i> 3′ untranslated region (3′UTR) is important for mRNA stability, and variants in this region are known to impact gene expression. Studies, mainly focusing in a 14 bp insertion/deletion polymorphism, have correlated <i>HLA-G</i> 3′UTR with susceptibility to viral infections, but other polymorphic variants in the <i>HLA-G</i> 3′UTR might also affect HCV infection as they are inherited as haplotypes. The present study evaluated <i>HLA-G</i> 3′UTR polymorphisms and performed linkage disequilibrium test and haplotype assembly in 286 HCV infected patients who have developed fibrosis, cirrhosis or HCC, as well as in 129 healthy control subjects. Haplotypes UTR-1, UTR-2 and UTR-3 were the most observed in HCV+ patients, in the frequencies of 0.276, 0.255 and 0.121, respectively. No statistically significant difference was observed between HCV+ and control subjects, even when patients were grouped according to outcome (HCC, cirrhosis or fibrosis). Despite that, some trends in the results were observed, and therefore, we cannot rule out the possibility that variants associated to high <i>HLA-G</i> expression can be involved in HCV infection susceptibility.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 5","pages":"249-255"},"PeriodicalIF":2.2,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10251930","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":"Analysis of null deletion polymorphism of glutathione S-transferase theta (GSTT-1), associated with anti-GSTT-1 antibodies development in transplantation","authors":"Manuel Muro-Perez,&nbsp;Gema González-Martínez,&nbsp;Pedro Martínez-García,&nbsp;Isabel Legaz,&nbsp;Pilar Zafrilla,&nbsp;Manuel Muro","doi":"10.1111/iji.12635","DOIUrl":"10.1111/iji.12635","url":null,"abstract":"Glutathione S‐transferase theta 1 (GSTT1) is an enzyme involved in phase II biotransformation processes and a member of a multigene family of detoxifying and clearing reactive oxygen species. GSTT1 is polymorphic like other biotransforming enzymes, allowing variability in hepatic conjugation processes. Immunological recognition of the GSTT1 alloantigen, as evidenced by donor‐specific antibodies formation, has previously been observed in recipients lacking GSTT1 protein (called GSTT1−, GSTT*0, null phenotype or homozygous for the GSTT1 deletion) who receive liver or kidney transplants from GSTT1+ donors and is a risk factor for the development of de novo hepatitis following liver transplants from a GSTT1 expressing donor. Antibodies against GSTT1 are demonstrated in patients who are GSTT1 null and received a transplant from a GSTT1+ donor. Understanding the local population frequency of the GSTT1 deletion is of value in understanding the potential clinical risk of developing post‐transplant complications, which can be attributed to the nonexpression of GSTT1. A population of 173 healthy donors of the Murcia Region in Southeast Spain was evaluated for a null allele of GSTT1 (n = 173). DNA was extracted, and GSTT‐1 null allele detection was performed by real‐time polymerase chain reaction. The frequency of the null GSTT1 genotype (nonexpression or deletion of the homozygous polymorphism of the GSTT1 protein) was 17.9% (n = 31 null allele GSTT1/173 total individuals). Our data suggest that the frequency of null GSTT1 mutations in our population in Southeast Spain is 17.9%, lower than in other Caucasoid populations. This would convert our recipient population into more susceptible to nonlocal potential organ donors and less susceptible to local donors. All recipients bearing this GSTT1 deletion homozygous would be without the protein and triggering an alloantigen in the case of transplantation with a donor without deletion.","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 5","pages":"264-271"},"PeriodicalIF":2.2,"publicationDate":"2023-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12635","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10547652","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":"Possible impact of HLA class I and class II on malignancies driven by a single germ-line BRCA1 mutation","authors":"Milena Ivanova,&nbsp;Anastasia Ormandjieva,&nbsp;Rumyana Dodova,&nbsp;Radka Kaneva,&nbsp;Velizar Shivarov","doi":"10.1111/iji.12631","DOIUrl":"10.1111/iji.12631","url":null,"abstract":"<p>This study provides the first immunogenetic preliminary evidence that specific human leucocyte antigen <i>(HLA) class I</i> and <i>class II</i> alleles and haplotypes may be relevant for <i>BRCA1 c.5263_5264insC</i> driven oncogenesis. Observed HLA associations might have practical implications for establishment of predictive markers for the response to immunotherapies in malignancies driven by this germ-line mutation.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 5","pages":"243-248"},"PeriodicalIF":2.2,"publicationDate":"2023-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10186056","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":"Correlation of CTLA-4 polymorphism and the risk of gastric cancer in a Chinese Bai population","authors":"Ping Yan,&nbsp;Shan Kong,&nbsp;Yong Zheng,&nbsp;Mingjing Cheng,&nbsp;Weidong Zhao","doi":"10.1111/iji.12632","DOIUrl":"10.1111/iji.12632","url":null,"abstract":"<p>Cytotoxic T lymphocyte-associated antigen-4 (CTLA-4) is involved in the regulation of immune responses mediated by T cells. This study aimed to explore the correlation between CTLA-4 gene polymorphisms and the risk of gastric cancer (GC) in the Bai minority population of southwestern China. A total of 422 GC patients and 397 healthy controls (HC) were included in this case–control study. Four single nucleotide polymorphism sites of CTLA-4 gene (rs231775, rs733618, rs16840252 and rs3087243) were selected and analysed. The results showed a significant difference in the rs733618 loci between GC and HC groups. The frequency of the rs733618 polymorphism ‘TC’ genotype was significantly lower in GC group compared to the HC group [odds ratio (OR), 95% confidence interval (CI): .47 (.35–.63), <i>p</i> &lt; .001]. GC cases with dominant genetic model ‘TC + CC’ had a 47% reduced risk of GC [OR, 95%CI: .53 (.40–.71), <i>p</i> &lt; .001]. Subgroup analyses revealed that the rs733618 ‘TC + CC’ genotype was associated with a lower risk of GC in male patients [OR, 95%CI: .42 (.31–.58), <i>p</i> &lt; .001], those aged ≤60 years old [OR, 95%CI: .27 (.18–.42), <i>p</i> &lt; .001], non-drinkers [OR, 95%CI: .21 (.13–.33), <i>p</i> &lt; .001], non-smokers [OR, 95%CI: .38 (.25–.57), <i>p</i> &lt; .001] and individuals without <i>Helicobacter pylori</i> infection [OR, 95%CI: .16 (.10–.26), <i>p</i> &lt; .001]. Further multivariated analyses indicated that individuals with the ‘TC + CC’ rs733618 genotype who were aged ≤60 years old [OR, 95%CI: .42 (.29–.83), <i>p</i> = .032] and had no <i>H. pylori</i> infection [OR, 95%CI: .35 (.28–.76), <i>p</i> = .018] were found to have a protective effect against GC. Additionally, soluble CTLA-4 were significantly lower in GC patients with ‘TC’ and ‘TC + CC’ genotypes (all <i>p</i> &lt; .05). Our findings suggest that the rs733618 polymorphism of CTLA-4 gene may play a critical role in the prevention of GC.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 5","pages":"256-263"},"PeriodicalIF":2.2,"publicationDate":"2023-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10186043","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":"HLA-A*02:06 allele may be susceptible to myelodysplastic syndrome in Zhejiang Han population, China","authors":"Nanying Chen,&nbsp;Fang Wang,&nbsp;Yanmin Zhao,&nbsp;Lina Dong,&nbsp;Wei Wang,&nbsp;Wei Zhang,&nbsp;Ji He,&nbsp;Faming Zhu","doi":"10.1111/iji.12629","DOIUrl":"10.1111/iji.12629","url":null,"abstract":"<p>The association between <i>HLA</i> loci and haematological malignancy has been reported in certain populations. However, there are limited data for <i>HLA</i> loci at a high-resolution level with haematological malignancy in China. In this study, a total of 1115 patients with haematological malignancies (including 490 AML, 410 acute lymphoblastic leukaemia (ALL), 122 myelodysplastic syndrome [MDS] and 93 non-Hodgkin's lymphoma [NHL]) and 1836 healthy individuals as a control group in the Han population of Zhejiang Province, China, were genotyped for <i>HLA-A</i>, <i>HLA-C</i>, <i>HLA-B</i>, <i>HLA-DRB1</i> and <i>HLA-DQB1</i> loci at high resolution. The possible association between <i>HLA</i> alleles and haplotypes and haematologic malignancy was analysed. The allele frequencies (AFs) of <i>HLA-A*02:05</i>, <i>HLA-A*02:06</i>, <i>HLA-A*32:01</i>, <i>HLA-B*35:03</i>, <i>HLA-B*54:01</i>, <i>HLA-B*55:07</i>, <i>HLA-DRB1*04:05</i>, <i>HLA-DRB1*15:01</i>, <i>HLA-DQB1*04:01</i> and <i>HLA</i>-<i>DQB1*06:02</i> in the MDS patients were much higher than those in the control group (<i>P</i> &lt; 0.05), while the AFs of <i>HLA-C*07:02</i>, <i>HLA-DRB1*03:01</i>, <i>HLA-DRB1*14:54</i>, <i>HLA-DQB1*02:01</i> and <i>HLA-DQB1*05:03</i> were obviously lower than those in the control group (<i>p</i> &lt; .05). Interestingly, the differences in these <i>HLA</i> alleles in patients with MDS were not significant after applying Bonferroni correction (<i>Pc</i> &gt; .05), except for <i>HLA-A*02:06</i> (<i>Pc</i> &lt; .01). There were 13, 6 and 10 <i>HLA</i> alleles with uncorrected significant differences (<i>p</i> &lt; .05) among patients with AML, ALL and NHL, respectively, compared with those in the control group, but the differences in these <i>HLA</i> alleles were not significant after correction (<i>Pc</i> &gt; .05). Compared to those of the control group, there were some haplotypes over 1.00% frequency in patients with AML, MDS and NHL patients with uncorrected significant differences (<i>p</i> &lt; .05). However, none of them showed a significant difference after correction as well (<i>Pc</i> &gt; .05). The study reveals that <i>HLA-A*02:06</i> may lead to susceptibility to MDS, but none of the <i>HLA</i> alleles were associated with AML, ALL or NHL after correction. These data will help to further understand the role of <i>HLA</i> loci in the pathogenesis of haematological malignancy in China.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 5","pages":"233-242"},"PeriodicalIF":2.2,"publicationDate":"2023-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10546153","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":"Nomenclature for factors of the HLA system, update April, May and June 2023","authors":"Steven G. E. Marsh,&nbsp;for the WHO Nomenclature Committee for Factors of the HLA System","doi":"10.1111/iji.12628","DOIUrl":"10.1111/iji.12628","url":null,"abstract":"The following sequences have been submitted to the Nomenclature Committee since the January, February and March 2023 nomenclature update (Marsh, 2023) and, following agreed policy, have been assigned official allele designations (Marsh et al., 2010). Full details of all sequences will 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. An additional 122 alleles were recently published but have not been included in Table 3 due to space considerations (Bishara et al., 2023). In addition, the alleles A*02:03:12, A*03:01:96, A*11:01:98, A*30:02:25, A*34:01:06, A*68:01:59, DRB1*10:38Q and DRB1*11:01:01:12Q have had suffix changes and have been renamed A*02:03:12Q, A*03:01:96Q, A*11:01:98Q, A*30:02:25Q, A*34:01:06Q, A*68:01:59Q, DRB1*10:38 and DRB1*11:01:01:12N, respectively. Furthermore, the sequence for the allele A*24:459:02 was named in error and has been renamed A*24:608. The name A*24:459:02 has therefore been deleted. Finally, the allele B*56:05:02 was extended and renamed B*56:94. The allele name B*56:05:02 has been deleted. All new and confirmatory sequences should now be submitted directly to theWHONomenclature Committee for Factors of the HLA System via the IPD-IMGT/HLA Database using the sequence submission tool provided (Barker et al., 2023). The IPD-IMGT/HLA Database may be accessed via the World WideWeb at www.ebi.ac.uk/ipd/imgt/ hla.","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 4","pages":"206-232"},"PeriodicalIF":2.2,"publicationDate":"2023-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9902963","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":"Human leukocyte antigen-G in gynaecological tumours","authors":"Xinmeng Guo,&nbsp;Jinning Zhang,&nbsp;Jin Shang,&nbsp;Yanfei Cheng,&nbsp;Shuang Tian,&nbsp;Yuanqing Yao","doi":"10.1111/iji.12626","DOIUrl":"10.1111/iji.12626","url":null,"abstract":"<p>Gynaecological tumours that threaten the health of women, especially when advanced and recurrent, have remained mostly intractable to existing treatments. Therefore, new therapeutic targets are urgently needed. Human leukocyte antigen-G (HLA-G) is a nonclassical major histocompatibility complex class I molecule typically expressed in foetuses for protection against destruction by the maternal immune system. HLA-G is also expressed under pathological conditions, such as in solid tumours, and may participate in tumour development and serve as a novel immune checkpoint in cancer. Furthermore, it is expressed in most gynaecological tumours. Therefore, inhibiting HLA-G and its receptors to block the immune escape pathway could represent a new strategy in cancer immunotherapy. To the best of our knowledge, this review is the first to summarize recent research findings on HLA-G in gynaecological oncology. We highlight the fact that HLA-G is expressed in gynaecological tumour tissues, wherein it inactivates immune effectors involved in tumour progression. Further studies on HLA-G in gynaecological oncology are needed to incorporate HLA-G into the design and evaluation of immunotherapy for malignant gynaecological diseases.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 4","pages":"163-176"},"PeriodicalIF":2.2,"publicationDate":"2023-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12626","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9861884","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":"ICOS gene polymorphisms in systemic lupus erythematosus: A case–control study","authors":"Hana Houssaini,&nbsp;Emna Bouallegui,&nbsp;Olfa Abida,&nbsp;Safa Tahri,&nbsp;Nesrine Elloumi,&nbsp;Hend Hachicha,&nbsp;Sameh Marzouk,&nbsp;Zouhir Bahloul,&nbsp;Hatem Masmoudi,&nbsp;Raouia Fakhfakh","doi":"10.1111/iji.12625","DOIUrl":"10.1111/iji.12625","url":null,"abstract":"<p>The inducible T-cell costimulator (ICOS) may play an important role in adaptive immunity by regulating the interaction between T cells and antigen-presenting cells. Disruption of this molecule can lead to autoimmune diseases, in particular systemic lupus erythematosus (SLE). In this study, we aimed to explore the possible association between <i>ICOS</i> gene polymorphisms and SLE as well as their influence on disease susceptibility and clinical outcomes. A further objective was to assess the potential impact of these polymorphisms on RNA expression. A case–control study, including 151 patients with SLE, and 291 unrelated healthy controls (HC) matched in gender, and geographical origin, was performed to genotype two polymorphisms located in the <i>ICOS</i> gene: rs11889031 (−693 G/A) and rs10932029 (IVS1 + 173 T/C); using the polymerase chain reaction (PCR)-restriction fragment length polymorphism method. The different genotypes were validated by direct sequencing. The expression level of <i>ICOS</i> mRNA was assessed by quantitative PCR in peripheral blood mononuclear cells of SLE patients and HC. The results were analysed using Shesis and <span>spss</span>.20. Our results revealed a significant association between <i>ICOS</i> gene rs11889031 &gt; CC genotype and SLE disease (codominant genetic model 1, (C/C vs. C/T), <i>p</i> = .001, odds ratio [OR] = 2.18 IC [1.36–3.49]); codominant genetic model 2, (C/C vs. T/T) <i>p</i> = .007, OR = 15.29 IC [1.97–118.5]); dominant genetic model, (C/C vs. C/T + T/T) <i>p</i> = .0001, OR = 2.44 IC [1.53–3.9]). Besides, there was a marginal association between rs11889031 &gt; TT genotype and T allele with a protective role from SLE (recessive genetic model, <i>p</i> = .016, OR = 0.08 IC [0.01–0.63] and <i>p</i> = 7.6904E − 05, OR = 0.43 IC = [0.28–0.66], respectively). Moreover, statistical analysis indicated that the rs11889031 &gt; CC genotype was linked with clinical and serological manifestations of SLE, including blood pressure, and anti-SSA antibodies production in SLE patients. However, the <i>ICOS</i> gene rs10932029 polymorphism was not associated with susceptibility to SLE. On the other side, we did not note any effect of the two selected polymorphisms on the level of <i>ICOS</i> mRNA gene expression. The study showed a significant predisposing association of the <i>ICOS</i> rs11889031 &gt; CC genotype with SLE, in contrast to a protective effect of rs11889031 &gt; TT genotype in Tunisian patients. Our results suggest that <i>ICOS</i> rs11889031 may act as a risk factor for SLE and could be used as a genetic susceptibility biomarker.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 4","pages":"194-205"},"PeriodicalIF":2.2,"publicationDate":"2023-06-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9910056","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}