International Journal of Immunogenetics最新文献

{"title":"Commentary on review: Forming new perspective approaches to determination of donor compatibility","authors":"Anat R. Tambur","doi":"10.1111/iji.12680","DOIUrl":"10.1111/iji.12680","url":null,"abstract":"<p>Clarke and Nadat (<span>2024</span>) provide an overview of techniques currently used to detect HLA antigens and antibodies and describe approaches that attempt to quantify incompatibility between a transplant recipient and her/his donor per their HLA typing. They proceed to mention assays investigating qualities of the antibodies such as affinity and avidity as well as glycosylation state and describe approaches to study T and B lymphocytes’ clonality and receptor repertoires. Lastly, they briefly talk about tests to assess allo-immune memory and mention some assays to assess graft injury.</p><p>I applaud the authors for providing a condensed menu of tests available for transplant immunologists. I do, however, fear that if the task was to provide new perspective on evaluating compatibility between recipient and donor, this review misses the forest for the trees.</p><p>Immune mechanisms are controlled by thousands of genes that drive much of the variability in immune responses, whether those are to pathogens, susceptibility to autoimmune diseases, or susceptibility to allo-stimulation. Each of these genes had evolved and diverged through mechanisms of essentiality, redundancy, and adaptability to provide diverse routes for the best protection to different populations under their own local threats (Quintana-Murci, <span>2019</span>). These evolutionary forces also necessitated the generation of pathways for redundancy in immune pathways, such that inhibition of one path would not lead to the demise of the individual/population. This means that testing for one, or even a few, pathways will not necessarily correlate with the overall composite response. We should further consider that beyond the ‘pure’ immune genes, additional variables participate in orchestrating an immune response including factors such as age and gender, and environmental exposures. Thus, the landscape of genes and molecules associated with immune activation is vast and polymorphic. We can opt to develop and validate more and more assays to assess allo-immunity as described in the aforementioned review, or we can direct our attention to the elephant in the room—better understanding of the underlying mechanisms leading to <i>differential</i> immunogenicity.</p><p>As Histocompatibility and Immunogenetics (H&I) professionals, we appreciate that much of the adaptive immune response (and at least some of the innate response) is guided by the individual's specific HLA molecules. Those are the molecules that control much of our thymic education, that are instrumental for antigen processing and presentation, and that are involved in the most crucial steps of immune activation. The first step in a decision-making tree is ‘identify the problem’. In the context of allo-stimulation, we must therefore first understand <i>why</i> one's immune system perceives one HLA mismatch as more immunogenic and another mismatch as less immunogenic. With this information, deciphering immune activati","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 4","pages":"252-253"},"PeriodicalIF":2.3,"publicationDate":"2024-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12680","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141093303","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":"Polymorphisms of HLA genes and hypersensitivity to penicillin among patients in a Taiwanese population","authors":"Chih-Chun Wang,&nbsp;I-Chieh Chen,&nbsp;Guan-Cheng Lin,&nbsp;Yi-Ming Chen,&nbsp;Ching-Hui Shen","doi":"10.1111/iji.12678","DOIUrl":"10.1111/iji.12678","url":null,"abstract":"<p>Penicillin allergy is a potentially life-threatening condition that is common among patients. However, the genetic associations with penicillin allergy are not yet recognized for prevention or diagnosis, particularly in East Asian populations. We conducted a retrospective case–control study using data from the Taiwan Precision Medicine Initiative and analysing DNA samples to identify eight major MHC Class I and Class II loci. We employed imputation methods for accurate HLA typing and enrolled 17,827 individuals who received penicillin. Logistic regression analyses were utilized to explore associations between HLA genotypes, comorbidities and allergy risk, while simultaneously conducting a subgroup analysis to explore the association between HLA genotypes, comorbidities and the severity of allergic reactions. Our study assigned 496 cases to the penicillin allergy group and 4960 controls to a matched group. The risk of penicillin allergy was significantly higher with HLA-DPB1*05:01 (OR = 1.36, <i>p</i> = .004) and HLA-DQB1*05:01 (OR = 1.54, <i>p</i> = .03), with adjusted <i>p</i>-values of .032 and .24, respectively. Urticaria was identified as a separate risk factor (OR = 1.73, <i>p</i> &lt; .001). However, neither the HLA alleles nor the comorbidities had a significant relationship with the risk of severe penicillin-induced allergy. HLA-DPB1*05:01 was found to be significantly associated with penicillin allergy reactions among the Taiwanese population.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 5","pages":"291-299"},"PeriodicalIF":2.3,"publicationDate":"2024-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140916464","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":"Forming a new perspective: Post-structural approaches to determination of donor compatibility and post-transplant assessment of allograft health","authors":"Fatima Nadat,&nbsp;Brendan Clark","doi":"10.1111/iji.12675","DOIUrl":"10.1111/iji.12675","url":null,"abstract":"<p>The purpose of this review is to encourage a new perspective on the question of donor–recipient compatibility and post-transplant assessment of graft health based on functional measures. The premise is that we should be better sighted on what (and how) the immune system responds toward rather than what is merely there. Continuance of the pursuit of further and better definition of antigens and antibodies is not however discouraged but seen as necessary to improved understanding of the structural correlates of functional immunity. There currently exists, in the opinion of the authors, an opportunity for histocompatibility and immunogenetics laboratories to develop and widen their scope of involvement into these new areas of laboratory activity in support and to the benefit of the transplant programmes they serve.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 4","pages":"195-205"},"PeriodicalIF":2.3,"publicationDate":"2024-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12675","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140849363","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 polymorphisms of TLR1, TLR2, TLR3 and TLR4 in patients with recurrent or severe infections","authors":"Johanna Teräsjärvi,&nbsp;Leena Kainulainen,&nbsp;Ville Peltola,&nbsp;Jussi Mertsola,&nbsp;Antti Hakanen,&nbsp;Qiushui He","doi":"10.1111/iji.12676","DOIUrl":"10.1111/iji.12676","url":null,"abstract":"<p>Toll-like receptors (TLRs) play an important role in innate immunity. Previous studies have shown that single nucleotide polymorphisms (SNPs) in the genes coding for these innate immune molecules can affect susceptibility to and the outcome of certain diseases. The aim of the present study was to examine the clinical relevance of well-studied <i>TLR1</i>–<i>4</i> SNPs in individuals who are prone to infections. Four functional SNPs, <i>TLR1</i> rs5743618 (1805C &gt; A, Ser602Ile), <i>TLR2</i> rs5743708 (2258G &gt; A, Arg753Gln), <i>TLR3</i> rs3775291 (1234C &gt; T, Leu412Phe) and <i>TLR4</i> rs4986790 (896A &gt; G, Asp299Gly), were analysed in 155 patients with recurrent respiratory infections (<i>n</i> = 84), severe infections (<i>n</i> = 15) or common variable immunodeficiency (<i>n</i> = 56), and in 262 healthy controls, using the High Resolution Melting Analysis method. Polymorphisms of <i>TLR2</i> rs5743708 (odds ratio [OR] 3.16; 95% confidence interval [CI] 1.45–6.83, <i>p </i>= .004<i>, ap</i> = .016) and <i>TLR4</i> rs4986790 (OR 1.8; 95% CI 1.05–3.12, <i>p </i>= .028, <i>ap</i> = .112) were more frequent in patients with recurrent or severe infections than in controls. Interestingly, seven patients were found to carry both variant genotypes of <i>TLR2</i> and <i>TLR4</i>, whereas none of the control group carried such genotypes (<i>p</i>  ≤ .0001). Moreover, <i>TLR2</i> polymorphism was associated with increased risk for acute otitis media episodes (OR, 3.02; 95% CI 1.41–6.47; <i>p</i> = .012). This study indicates that children and adults who are more prone to recurrent or severe respiratory infections carry one or both variant types of <i>TLR2</i> and <i>TLR4</i> more often than control subjects. Genetic variations of <i>TLR</i>s help explain why some children are more susceptible to respiratory infections.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 4","pages":"242-251"},"PeriodicalIF":2.3,"publicationDate":"2024-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12676","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140858526","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 January, February and March 2024","authors":"Steven G. E. Marsh","doi":"10.1111/iji.12673","DOIUrl":"10.1111/iji.12673","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 4","pages":"255-290"},"PeriodicalIF":2.3,"publicationDate":"2024-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140842174","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":"Vitamin D receptor gene polymorphisms role in COVID-19 severity: Results of a Mexican patients’ cohort","authors":"Luis Antonio Ochoa-Ramírez,&nbsp;Alba Lissy Corona-Angulo,&nbsp;Efrén Rafael Ríos-Burgueño,&nbsp;Jorge Guillermo Sánchez-Zazueta,&nbsp;Denisse Stephania Becerra-Loaiza,&nbsp;Jesús Salvador Velarde-Félix","doi":"10.1111/iji.12674","DOIUrl":"10.1111/iji.12674","url":null,"abstract":"<p>Vitamin D status has been involved with coronavirus disease 19 (COVID-19) severity. This may be mediated by vitamin D metabolism regulatory genes. Of interest is the vitamin D receptor (VDR) gene, which has been previously associated with other inflammatory and respiratory diseases. In order to investigate the role of VDR gene polymorphisms in COVID-19 severity and outcome, a total of 292 COVID-19 patients were classified according to severity in moderate (<i>n</i> = 56), severe (<i>n</i> = 89) and critical (<i>n</i> = 147) and, according to outcome in survivor (<i>n</i> = 163) and deceased (<i>n</i> = 129), and analysed for <i>Fok</i>I and <i>Taq</i>I VDR gene polymorphisms by polymerase chain reaction-based restriction enzyme digestion. The <i>Fok</i>I and <i>Taq</i>I single nucleotide polymorphisms (SNPs) were not associated with COVID-19 severity or mortality individually but when analysed by haplotype, TC was associated with an increased risk of presenting critical COVID-19. Additionally, <i>Fok</i>I CT genotype was more frequent in COVID-19 patients with hypertension, and T allele carriers presented higher aspartate aminotransferase levels. Our results suggest a relationship between VDR <i>Fok</i>I and <i>Taq</i>I SNPs and COVID-19 severity in Mexican population. Although there are some previous reports of VDR polymorphisms in COVID-19, this represents the first report in Latin American population. Further studies on other populations are encouraged.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 4","pages":"235-241"},"PeriodicalIF":2.3,"publicationDate":"2024-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140827728","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 STAT4 gene polymorphism and susceptibility to pulmonary tuberculosis in the Moldavian population","authors":"Alexander Varzari,&nbsp;Elena Tudor,&nbsp;Andrei Corloteanu,&nbsp;Ecaterina Axentii,&nbsp;Iurie Vladei,&nbsp;Igor V. Deyneko","doi":"10.1111/iji.12672","DOIUrl":"10.1111/iji.12672","url":null,"abstract":"<p>Signal transducer and activator of transcription 4 (STAT4) plays a crucial role in the host immune response against <i>Mycobacterium tuberculosis</i>. This study investigates the association between <i>STAT4</i> gene polymorphisms and pulmonary tuberculosis (TB) risk in the Moldavian population. A total of 272 TB patients and 251 community-matched controls underwent screening for functional single-nucleotide polymorphisms (SNPs) rs897200 and rs7574865 in the <i>STAT4</i> gene. The minor <i>T</i> allele and the <i>TT</i>/<i>CT</i> genotype of rs897200 demonstrated a significant association with reduced pulmonary TB risk (allelic model: adjusted OR = .74, <i>p</i> = .025; log-additive model: adjusted OR = .72, <i>p</i> = .02; and dominant model: adjusted OR = .65, <i>p</i> = .023), indicating a protective effect. Similar associations, characterized by an even more pronounced reduction in risk, were observed among females and late-onset TB patients (&gt;44 years). No significant associations were found for rs7574865. In addition, a combined genotype analysis incorporating 43 SNPs from our previous studies revealed potential associations, such as <i>STAT4</i> rs897200 <i>CT</i> with <i>IFNG</i> rs2430561 <i>AA</i> (adjusted OR = .36, <i>p</i> = .0025) and <i>STAT4</i> rs897200 <i>CT</i> with <i>TNFA</i> rs1800629 <i>GA</i> (adjusted OR = .33, <i>p</i> = .0012). This study emphasizes the significant association of <i>STAT4</i> rs897200 with pulmonary TB risk in the Moldavian population, underscoring its role in the disease development.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 4","pages":"228-234"},"PeriodicalIF":2.3,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140669337","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":"Exploring the immunological relevance of pre-transplant donor-specific antibody in intestinal transplantation, with special consideration to the liver","authors":"Rhea McArdle,&nbsp;Rebecca Cope,&nbsp;Afzal Chaudhry,&nbsp;Lisa Sharkey,&nbsp;Sarah Peacock","doi":"10.1111/iji.12670","DOIUrl":"10.1111/iji.12670","url":null,"abstract":"<p>Despite recent advances that have improved outcomes following intestinal transplantation (ITx), achieving long-term patient survival and rejection-free survival is still challenging. Understanding the relevance of pre-transplant human leukocyte antigen (HLA) donor-specific antibody (DSA) in ITx and the immunomodulatory potential of the liver within the allograft is crucial to providing an accurate assessment of pre-transplant immunological risk, which could influence and improve post-transplant outcomes further. This was the primary objective of this retrospective study of 95 adult ITx transplants which took place at Cambridge University Hospitals (United Kingdom) between 2007 and 2019. Two novel programs were developed and validated to identify DSA (tested by Luminex single antigen beads) in this dataset. Data analysis utilised Kaplan–Meier survival methods, and statistical analysis was performed using log-rank tests and adjusted Cox models. Fifty-four (57%) ITx cases contained a liver, and 36 (38%) were sensitised to HLA. Pre-transplant DSA &gt; 500 mean fluorescent intensity appeared to negatively affect post-ITx patient survival and rejection outcomes. Additionally, liver-inclusive allografts seemed to show particular resistance to HLA class I DSA. Our data hints towards consistency with other ITx studies where deleterious effects of DSA have been demonstrated, and where liver inclusion is protective from HLA class I DSA. This is in line with current national guidelines for immunological risk. Our publicly available research programs could support future large or multicentre studies where statistically relevant data might be gained.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 4","pages":"217-227"},"PeriodicalIF":2.3,"publicationDate":"2024-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140623585","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-DQ7.5 and coeliac disease","authors":"Stiliano Maimaris,&nbsp;Annalisa Schiepatti,&nbsp;Chiara Scarcella,&nbsp;Carla Badulli,&nbsp;Federico Biagi","doi":"10.1111/iji.12671","DOIUrl":"10.1111/iji.12671","url":null,"abstract":"&lt;p&gt;We have read with great interest the recently published UK NEQAS and BSHI guideline on laboratory testing and clinical interpretation of HLA genotyping results supporting the diagnosis of coeliac disease (CD) by Pritchard et al. (&lt;span&gt;2023&lt;/span&gt;). Interpretation of HLA genotyping for CD can be challenging in clinical practice, and sometimes even misleading, and these proposed guidelines provide a valuable framework for standardizing HLA genotyping and its interpretation in the context of CD diagnosis. However, we would like to address a particular point of contention regarding excluding CD in patients expressing only HLA-DQA1*05 (in the form of DQ7.5) in the absence of HLA-DQ2.5, DQ8 and DQ2.2.&lt;/p&gt;&lt;p&gt;The guideline suggests that the presence of DQA1*05 alone (which occurs in HLA-DQ7.5), without the corresponding DQB1*02 allele to form the DQ2.5 heterodimer in &lt;i&gt;cis&lt;/i&gt; or &lt;i&gt;trans&lt;/i&gt;, should lead to the exclusion of CD (Pritchard et al., &lt;span&gt;2023&lt;/span&gt;). However, in our experience, coeliac patients expressing only HLA-DQ7.5 do exist, and among coeliac patients diagnosed at our centre are roughly as common as those with only DQ8 or only DQ2.2. More precisely at our centre we have diagnosed 6 DQ7.5&lt;sup&gt;+&lt;/sup&gt;, 6 DQ2.2&lt;sup&gt;+&lt;/sup&gt; and 4 DQ8&lt;sup&gt;+&lt;/sup&gt; coeliac patients. This may seem strange at first, but it might be explained by the very high frequency of the DQ7.5 haplotype in the Italian general population (26%), whereas DQ2.2 is less common (15%) and DQ8 is quite rare (2%) (Margaritte-Jeannin et al., &lt;span&gt;2004&lt;/span&gt;). These figures differ significantly from those of other populations, as data show a HLA-DQ7.5 prevalence of 17% in France (Margaritte-Jeannin et al., &lt;span&gt;2004&lt;/span&gt;), 11% in a European American population (Megiorni et al., &lt;span&gt;2009&lt;/span&gt;) and 10% in Scandinavia (Margaritte-Jeannin et al., &lt;span&gt;2004&lt;/span&gt;).&lt;/p&gt;&lt;p&gt;Data in the literature also show that a small, yet significant, subset of coeliac patients express only HLA-DQ7.5. More precisely, estimates show that 0.3%–2.1% of coeliac patients carry only the DQ7.5 allele in the absence of DQ2.5, DQ8 and DQ2.2 (Erlichster et al., &lt;span&gt;2020&lt;/span&gt;; Fernández-Bañares et al., &lt;span&gt;2017&lt;/span&gt;; Karell et al., &lt;span&gt;2003&lt;/span&gt;; Margaritte-Jeannin et al., &lt;span&gt;2004&lt;/span&gt;; Megiorni et al., &lt;span&gt;2009&lt;/span&gt;; Schiepatti et al., &lt;span&gt;2021&lt;/span&gt;; Tinto et al., &lt;span&gt;2015&lt;/span&gt;). Moreover, in a large multicentric study on seronegative CD, DQ7.5 alone was also found among seronegative patients (Schiepatti et al., &lt;span&gt;2021&lt;/span&gt;). Therefore, although the risk conferred by DQ7.5 alone is indeed very low, it is not negligible and we think that DQ7.5 alone may not ‘automatically’ exclude CD. The exclusion of CD based on DQ7.5 could therefore lead to missed diagnoses in a small minority of coeliac patients carrying only DQ7.5, who could otherwise benefit from a gluten-free diet and appropriate management of their condition.&lt;/p&gt;&lt;p&gt;Given the potential clinical implications, w","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 3","pages":"192-193"},"PeriodicalIF":2.2,"publicationDate":"2024-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12671","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140563168","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":"High plasma interleukin-6 level, but not IL-6 gene variants, as a predictive marker for the development of hepatocellular carcinoma in a Moroccan population","authors":"Ikram-Allah Tanouti,&nbsp;Hassan Fellah,&nbsp;Asmaa Haddaji,&nbsp;Chaimaa Zerrad,&nbsp;Mohamed Tahiri,&nbsp;Wafaa Badre,&nbsp;Khaoula Nfaoui,&nbsp;Pascal Pineau,&nbsp;Soumaya Benjelloun,&nbsp;Sayeh Ezzikouri","doi":"10.1111/iji.12669","DOIUrl":"10.1111/iji.12669","url":null,"abstract":"<p>Chronic inflammation triggered by hepatitis B (HBV) and hepatitis C (HCV) viruses elevates interleukin 6 (IL-6) levels, activating pathways that cause liver damage and contribute to hepatocellular carcinoma (HCC) development. In this study, we assessed IL-6 levels and explored the correlation between the rs1800795 and rs1800797 variants of the <i>IL-6</i> gene and the risk of developing HCC. We conducted a case–control study involving 314 participants. Among them, 157 were HCC patients (94 anti-HCV, 22 HBsAg and 41 metabolic dysfunction-associated steatotic liver disease [MASLD]) and 157 controls. Genotyping for <i>IL-6</i> rs1800795 and rs1800797 polymorphisms was performed using real-time polymerase chain reaction (PCR). Additionally, plasma IL-6 levels were determined using enzyme-linked immunosorbent assay. The IL-6 levels were notably higher in patients compared to controls (<i>p</i> &lt; .0001). Among HCC patients, those with MASLD exhibited higher plasma IL-6 levels than those with HCV and HBV (<i>p</i> = .003). In male HCC patients, IL-6 levels were significantly elevated compared to controls (<i>p</i> &lt; .0001). Similarly, female patients showed significantly higher IL-6 levels compared to female controls, though still lower than in male HCC patients (<i>p</i> = .023). However, no significant difference was observed in IL-6 levels between male and female HCC patients (<i>p</i> = .129). Contrastingly, the genotype and allele distributions of the rs1800795 and rs1800797 polymorphisms in the <i>IL-6</i> gene displayed no association with HCC development (all <i>p</i> &gt; .05). In Moroccan HCC patients, chronic liver inflammation is characterized by elevated levels of IL-6, potentially playing a role in the progression of liver disease and tumourigenesis.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 4","pages":"206-216"},"PeriodicalIF":2.3,"publicationDate":"2024-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140335553","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}