International Journal of Immunogenetics最新文献

{"title":"A Potential Link Between HLA-DRB1/DQB1 Alleles and Response to Treatment in Rheumatoid Arthritis Patients.","authors":"Ahmad Tahamoli-Roudsari, Ashkan Rasouli-Saravani, Zahra Basiri, Mehrdad Hajilooi, Ghasem Solgi","doi":"10.1111/iji.12711","DOIUrl":"https://doi.org/10.1111/iji.12711","url":null,"abstract":"<p><p>The present study aimed to determine the association of HLA-DRB1/-DQB1 alleles with response to treatment and anti-citrullinated peptide antibody (ACPA) status in Iranian rheumatoid arthritis (RA) patients. A total of 167 RA patients, including 114 good responders (GRs) and 53 poor responders (PRs) as well as 330 ethnic-matched healthy controls, participated in this study. Disease activity and treatment response were assessed using the Disease Activity Score 28-joint (DAS28) scores during the 9-month post-treatment. HLA-DRB1/-DQB1 alleles were identified using polymerase chain reaction with a sequence-specific primers (PCR-SSP) method and compared between the study groups. Of the patients, 106 (63.5%) were ACPA-positive, 88 (52.7%) human leucocyte antigen (HLA)-shared epitope (SE)-positive, 64 (38.3%) ACPA+SE+ and 37 (22.2%) ACPA-SE-. HLA-SE alleles were significantly more frequent in patients (p = 3.2e - 05), in PR versus GR patients (p = 0.01) and in ACPA+ versus ACPA- patients (p = 0.009). PR patients had a higher prevalence of ACPA+SE+ compared to GR patients (p = 0.02). Higher frequencies of DRB1*04:02 (p_c = 0.03), *04:04 (p_c = 0.007), *04:05 (p_c = 5.0e - 05), *10:01 (p_c = 1.0e - 04), DQB1*03:02 (p_c = 0.002) and *05:01 (p_c = 0.002) alleles, and lower frequencies of DRB1*04:01 (p_c = 0.007), *11:01 (p_c = 0.03), *13:01 (p_c = 0.03) and DQB1*06:03 (p_c = 0.03) alleles were observed in patients compared to healthy controls. These findings suggest a relationship between HLA-SE alleles and ACPA development and a potential link between HLA-SE/non-SE alleles and therapeutic responses in RA patients.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143803134","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":"Comparison of HISTO SPOT HLA AB With Cross-Match Results.","authors":"Madeleine R Harris, Andrew Canterbury, Judith E Worthington, MarcusP Lowe, Marie E Hampson, Kay V Poulton","doi":"10.1111/iji.12710","DOIUrl":"https://doi.org/10.1111/iji.12710","url":null,"abstract":"<p><p>Single antigen bead assays have revolutionised the identification and definition of HLA-specific antibodies and HLA-specific antibody profiles present in patients awaiting transplantation are routinely characterised to inform organ allocation. For highly sensitised patients with a lower likelihood of finding a compatible donor, de-listing of unacceptable antigens is an option to release organ offers. In this study, 164 serum samples from 106 potential renal transplant recipients were tested using HISTO SPOT HLA AB in parallel with testing by LABScreen Single Antigen (One Lambda) and cross-matching by both CDC and flow cytometry. The results were analysed to assess the ability of HISTO SPOT HLA AB to predict a cross-match result and to understand the relative sensitivity of this test compared with other available assays. 136 samples analysed were positive for donor-specific antibodies (DSAs) using HISTO SPOT HLA AB. Of these, 17 (12.5%) were CDC positive, and 82 (60.3%) were positive by flow cytometry. A total of 28 sera which were negative for DSAs using HISTO SPOT HLA AB were negative by CDC and 25 (89.3%) were also flow cytometry cross-match negative. In this early study, HISTO SPOT HLA AB has a 100% negative predictive value for CDC and 89.3% for flow cytometry cross-matching. HISTO SPOT may therefore prove a useful additional tool to inform de-listing strategies and to facilitate transplantation in highly sensitised patients.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143648392","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 of TNFRSF13B Gene Polymorphisms With SARS-CoV-2 Infection, Severity, and Humoral Immune Response in a Moroccan Population","authors":"Oumaima Laazaazia,&nbsp;Ahd Ouladlahsen,&nbsp;Safaa Aqillouch,&nbsp;Haya Altawalah,&nbsp;Oumaima Bouddahab,&nbsp;Rachid Noureddine,&nbsp;Pascal Pineau,&nbsp;Mustapha Lkhider,&nbsp;Sayeh Ezzikouri","doi":"10.1111/iji.12709","DOIUrl":"10.1111/iji.12709","url":null,"abstract":"<div>\u0000 \u0000 <p>Background and Aims: Genetic factors, including polymorphisms in the <i>TNFRSF13B</i> gene, which regulates humoral immunity, can influence susceptibility to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). This study aims to investigate the association between two polymorphisms, rs12603708 and rs3751987, and SARS-CoV-2 susceptibility, disease severity, and humoral immune responses in a Moroccan population.</p>\u0000 <p>Materials and Methods: A total of 303 unvaccinated COVID-19 patients (151 severe cases and 152 asymptomatic/moderate cases) and 150 individuals from a SARS-CoV-2-negative group were included in the analysis. Genotyping was performed using TaqMan SNP assays. SARS-CoV-2 antibodies targeting the nucleocapsid protein and IgG antibodies specific to the receptor-binding domain (RBD) were quantified using chemiluminescence microparticles immunoassay. Complete blood counts and C-reactive protein levels were evaluated using an automated platform.</p>\u0000 <p>Results: Our analysis revealed that the A/A genotype of rs12603708 significantly increased the risk of SARS-CoV-2 infection in both codominant (<i>p</i> = 0.0055; OR = 3.74; adjusted <i>p</i> value = 0.022) and recessive (<i>p</i> = 0.0049; OR = 3.17; adjusted <i>p</i> value = 0.022) models, as well as the risk of severe disease (<i>p</i> = 0.014; OR = 3.43; adjusted <i>p</i> value = 0.049). For rs3751987, the G/G genotype was linked to higher susceptibility to infection (<i>p</i> = 0.0011; OR = 2.91; adjusted <i>p</i> value = 0.008), while the G/A genotype appeared protective (<i>p</i> = 0.0007; OR = 0.45; adjusted <i>p</i> value = 0.008). No association was found between rs3751987 and disease severity. Analysis of IgG anti-N and anti-RBD levels revealed no significant associations with either polymorphism (<i>p</i> &gt; 0.05).</p>\u0000 <p>Conclusion: These findings highlight the role of <i>TNFRSF13B</i> polymorphisms in SARS-CoV-2 susceptibility and severity, while their impact on humoral immune responses appears limited.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 2","pages":"75-87"},"PeriodicalIF":2.3,"publicationDate":"2025-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143537103","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":"Extended Typing of Common Erythrocyte Antigens in Tunisian Blood Donors and Its Usefulness in Transfusion Immunology","authors":"Mohamed Hichem Sellami,&nbsp;Hamida Ferchichi,&nbsp;Eya Ghazouani,&nbsp;Noura Dellai,&nbsp;Yesmine Boughzala,&nbsp;Wafa Aissa,&nbsp;Manel Chaabane,&nbsp;Houda Kâabi,&nbsp;Slama Hmida","doi":"10.1111/iji.12708","DOIUrl":"10.1111/iji.12708","url":null,"abstract":"<div>\u0000 \u0000 <p>Extended RBC antigens typing is very valuable in transfusion immunology since it is highly recommended to ensure better transfusion practices and avoid transfusion-related complications and to establish registries for rare blood donors as recommended by the International Society of Blood Transfusion and World Health Organization.</p>\u0000 <p>A group of 236 Tunisian blood donors were genotyped for 19 common blood loci using the Sequence-specific primers polymerase chain reaction (SSP-PCR) method. The statistical analysis was done using the HaploView Software.</p>\u0000 <p>The study showed the dominance of the loci: <i>RHCE*e</i>, <i>KEL*02</i>, <i>FY*02</i> and <i>CO*01;</i> and the absence of the homozygous state of the <i>CO*02</i> allele. Furthermore, two complete linkage disequilibrium leading to the absence of the two alleles <i>RHCE*C-RHCE*E (C-E)</i> and <i>FY*01N.01</i> (<i>FY*Anull</i>) were detected. Additionally, it appeared that approximately 91% of these blood donors are positive for the <i>RHD</i> gene; and all subjects who lacked the <i>RHD</i> exon 10 are homozygous for the <i>RHCE*c</i> and <i>RHCE*e</i> variants. The study also revealed that the RH1 negative blood cannot be universal to the Rh system because almost all RH1 negative donated blood is RH:-2,4,-3,5 (ccee), which may constitute a risk in some recipients carrying the anti-RH4 and/or anti-RH5 antibodies.</p>\u0000 <p>Considering that some donated RBC units may contain blood with very immunogenic phenotypes, great caution is required when transfusing some subjects, especially in emergency situations because it can be a step towards subsequent complex or multiple alloimmunization.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 2","pages":"66-74"},"PeriodicalIF":2.3,"publicationDate":"2025-02-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143390826","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 October, November and December 2024","authors":"Steven G. E. Marsh","doi":"10.1111/iji.12707","DOIUrl":"10.1111/iji.12707","url":null,"abstract":"<p>The following sequences have been submitted to the Nomenclature Committee since the July, August and September 2024 nomenclature update (Marsh, <span>2024</span>) and, following agreed policy, have been assigned official allele designations (Marsh et al. <span>2010</span>). Full details of all sequences will be published in a forthcoming report.</p><p>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.</p><p>The DRB1*15:13 allele has had a Q suffix added in December 2024, now making it DRB1*15:13Q, as it was recognised in having the same amino acid deletion as had previously been described in the DRB1*11:272Q allele. The C*04:09N allele has had its suffix changed from N to L in December 2024 and is now designated C*04:09L based on information published recently indicating that this allele showed detectable levels of expression (Welters et al. <span>2024</span>). A further 6 alleles, MICA*023, MICA*026, MICA*036, MICB*005:04, MICB*005:02:02 and MICB*002:01:34 were all deleted in October 2024 following the resequencing of the original material in which these alleles were first described.</p><p>All new and confirmatory sequences should now be submitted directly to the WHO Nomenclature Committee for Factors of the HLA System via the IPD-IMGT/HLA Database using the sequence submission tool provided (Barker et al. <span>2023</span>; Robinson, Barker, and Marsh <span>2024</span>). The IPD-IMGT/HLA Database may be accessed via the World Wide Web at: www.ebi.ac.uk/ipd/imgt/hla</p><p>The author declares no conflicts of interest.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 2","pages":"88-123"},"PeriodicalIF":2.3,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12707","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143059029","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":"Influence of HLA-B Leader (−21M/T) Dimorphism With Bw4/Bw6 Epitopes on Graft Versus Host Disease After Allogenic Haematopoietic Stem Cell Transplantation in North Indians","authors":"Disha Agarwal,&nbsp;Gaurav Sharma,&nbsp;Alka Khadwal,&nbsp;Pankaj Malhotra","doi":"10.1111/iji.12706","DOIUrl":"10.1111/iji.12706","url":null,"abstract":"<div>\u0000 \u0000 <p>High degree of variability in human leukocyte antigens (HLAs) system restricts availability of histocompatible HLA-matched-related donors, thus increasing reliance on worldwide bone marrow registries network. Nevertheless, due to limited coverage/accessibility/affordability of some ethnicities in these registries, haploidentical haematopoietic stem cell transplantation (HSCT) emerged as an alternative option, though with allorecognition-mediated graft versus host disease (GvHD) (&gt;40% cases). A dimorphism [−21 methionine (M) or threonine (T)] in HLA-B leader peptide (exon 1) which differentially influences its HLA-E binding, plausibly regulates natural killer cell functionality, affecting GvHD vulnerability and clinically in practice for donor selection. Here, we analysed population-specific influence of this functionally relevant dimorphism on post HSCT GvHD occurrence and clinical utility (if any) towards defining donor permissibility. High resolution HLA-B genotyping data were analysed in 178 study participants, including 89 HSCT patient–donor pairs, for the frequency distribution of −21 leader dimorphism. Distribution of HLA-Bw4/Bw6 was deduced with killer cell immunoglobulin receptor ligand calculator tool in IPD-IMGT/HLA database. Though −21T (∼85%) was over represented in the study participants, no significant influence is observed for this variant between HLA-identical v/s haplo HSCT either with or without GvHD, at allelic and genotypic levels as well as in BLEAT (HLA-B Leader Assessment Tool)-based donor–recipient matching. Stratified analysis of −21 M/T into Bw4/Bw6 groups revealed a higher frequency of −21T + Bw4 in GvHD (+) group compared to GvHD (−) (<i>p</i> &lt; 0.05), plausibly linking this haplotype with occurrence of GvHD post HSCT and importance of HLA class I-mediated NK cell functionality in GvHD.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 2","pages":"57-65"},"PeriodicalIF":2.3,"publicationDate":"2025-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143046577","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":"Replication Study and Meta-Analysis of the Contribution of Seven Genetic Polymorphisms in Immune-Related Genes to the Risk of Gastric and Colorectal Cancers","authors":"Weiguang Zhou,&nbsp;Siqi Yuan,&nbsp;Wenqiang Kang,&nbsp;Xiangyuan Deng,&nbsp;Hang Zhou,&nbsp;Jiangyi Ruan,&nbsp;Xianhong Feng,&nbsp;Meifang Qi,&nbsp;Bifeng Chen","doi":"10.1111/iji.12705","DOIUrl":"10.1111/iji.12705","url":null,"abstract":"<div>\u0000 \u0000 <p>Recently, it has been realized that immune processes participate in the pathogenesis of human cancers. A large number of genetic polymorphisms in immune-related genes have been extensively examined for their roles in the susceptibility of gastric cancer (GC) and colorectal cancer (CRC), including <i>IL4</i> gene rs2070874, <i>IL4RA</i> gene rs1801275, <i>IL18</i> gene rs187238, <i>IL18RAP</i> gene rs917997, <i>IL17A</i> gene rs8193036, <i>IL23R</i> gene rs1884444 and <i>IL23R</i> gene rs10889677. However, there is no consistent conclusion, which calls for further research. In this case–control study, these 7 genetic polymorphisms were genotyped by Sanger sequencing in a total of 1247 patients with cancer (GC/CRC: 460/787) and 800 healthy individuals. A total of 31 previous studies and our present study were included in this meta-analysis. The case–control study revealed that in Hubei Chinese population, rs2070874, rs187238 and rs10889677 were significantly associated with CRC risk, whereas only rs917997 was significantly associated with GC risk. The meta-analysis showed that rs2070874, rs917997, rs8193036 and rs1884444 were significantly associated with GC risk in Chinese population, whereas rs2070874 in total population, rs1801275 in Asian population and rs187238 in Chinese population were significantly associated with CRC risk. <i>IL4</i> gene rs2070874, <i>IL18RAP</i> gene rs917997, <i>IL17A</i> gene rs8193036 and <i>IL23R</i> gene rs1884444 may serve as the susceptible factors for GC carcinogenesis in Chinese population. <i>IL4</i> gene rs2070874 in total population, <i>IL4RA</i> gene rs1801275 in Asian population and <i>IL18</i> gene rs187238 in Chinese population may be genetic biomarkers for CRC susceptibility.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 1","pages":"39-55"},"PeriodicalIF":2.3,"publicationDate":"2025-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970678","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 of C4 Null Alleles and Persistently Low C4 in Asian Indian Patients With Systemic Lupus Erythematosus","authors":"Sachin R. Jeevanagi,&nbsp;Pankti Mehta,&nbsp;Rekha Aaron,&nbsp;Debashish Danda,&nbsp;Sumita Danda,&nbsp;Jayakanthan Kabeerdoss","doi":"10.1111/iji.12704","DOIUrl":"10.1111/iji.12704","url":null,"abstract":"<div>\u0000 \u0000 <p>The association between heterozygous C4 deficiency and systemic lupus erythematosus (SLE) is unclear. There is a lack of data in South Asian Indians on any possible association of C4A and C4B null alleles with lupus. We aimed to study the prevalence of C4A and C4B null alleles in a cohort of SLE patients with persistently low C4 levels compared to healthy controls (HC). Patients with SLE and HC were recruited for this prospective observational study. C4 (C4AQ and C4BQ) polymorphisms were tested using a touch-down polymerase chain reaction protocol. One hundred and three SLE patients and 103 HC were included in the study. Persistently low C4 levels were observed in 25 (23.6%) of SLE. The frequency of C4A and C4B null alleles was similarly distributed across SLE and HC (4% and 3.8%, respectively). Univariate analysis showed a low age, higher proportion of elevated dsDNA, and higher positive anti-SSA (Sjogren's syndrome-related antigen A) antibodies at presentation were associated in SLE patients with the null allele group on comparison without the null allele group. However, these associations did not persist in the multivariate analysis. In conclusion, C4 null allele frequency was similar in SLE and HC. No characteristic associations were observed in SLE with C4 null alleles was observed. Therefore, C4 null allele is an unlikely explanation for persistently low C4 in South Indian Asian patients with lupus.</p>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 1","pages":"33-38"},"PeriodicalIF":2.3,"publicationDate":"2025-01-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142970676","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 of PADI4 Gene Polymorphisms With Susceptibility to Rheumatoid Arthritis: Evidence From 24 Case–Control Studies","authors":"Mohammad Karimian,&nbsp;Fatemeh Zahra Mohammadzadeh","doi":"10.1111/iji.12701","DOIUrl":"10.1111/iji.12701","url":null,"abstract":"<p>This study aims to investigate the association of rs11203366, rs11203367, rs874881, rs2240340 and rs1748033 polymorphisms of protein-arginine deiminase type 4 (<i>PADI4</i>) gene with the risk of rheumatoid arthritis (RA) through a meta-analysis that was followed with a bioinformatics approach. The data were collected from reputable articles and underwent quantitative analysis, followed by in silico analysis using some bioinformatics tools. The results showed that rs874881 polymorphism in Latino (G vs. C: OR = 1.35, 95% CI = 1.11–1.65, <i>p </i>= 0.003; GG + CG vs. CC: OR = 2.02, 95% CI = 1.41–2.89, <i>p </i>= 0.0001; CG vs. CC + GG: OR = 1.38, 95% CI = 1.04–1.83, <i>p </i>= 0.027; GG vs. CC: OR = 2.09, 95% CI = 1.35–3.23, <i>p </i>= 0.001; CG vs. CC: OR = 1.98, 95% CI = 1.36–2.87, <i>p </i>= 0.00033) and rs1748033 in Caucasian population (T vs. C: OR = 1.25, 95% CI = 1.07–1.45, <i>p</i> = 0.005; TT vs. CT + CC: OR = 1.34, 95% CI = 1.09–1.64, <i>p</i> = 0.005, TT + CT vs. CC: OR = 1.26, 95% CI = 1.09–1.44, <i>p</i> = 0.001; TT vs. CC: OR = 1.59, 95% CI = 1.13–2.23, <i>p</i> = 0.007; CT vs. CC: OR = 1.20, 95% CI: 1.04–1.39, <i>p</i> = 0.015) are associated with increased risk of RA. Moreover, rs11203366 (G vs. A: OR = 1.46, 95% CI = 1.19–1.78, <i>p</i> = 0.0002, GG vs. AG + AA: OR = 1.42, 95% CI = 1.01–2.01, <i>p</i> = 0.043; GG + AG vs. AA: OR = 2.03, 95% CI = 1.45–2.86, <i>p</i> = 0.00004; GG vs. AA: OR = 2.29, 95% CI = 1.49–3.51, <i>p</i> = 0.0002; AG vs. AA: OR = 1.93, 95% CI = 1.35–2.76, <i>p</i> = 0.0003) and rs11203367 (T vs. C: OR = 1.50, 95% CI = 1.23–1.83, <i>p</i> = 0.00007; TT vs. CT + CC: OR = 1.56, 95% CI = 1.12–2.18, <i>p</i> = 0.009; TT + CT vs. CC: OR = 2.02, 95% CI = 1.43–2.84, <i>p</i> = 0.00007, TT vs. CC: OR = 2.43, 95% CI = 1.59–3.71, <i>p</i> = 0.0004; CT vs. CC: OR = 1.86, 95% CI = 1.30–2.68, <i>p</i> = 0.0007) had an impact in the Latino population. Bioinformatics tools showed the effect of these polymorphisms on gene function. These findings suggest that rs11203366, rs11203367, rs874881 and rs1748033 polymorphisms may be genetic risk factors for RA. Moreover, differences between populations suggest that ethnicity may play an important role in the effect of these polymorphisms on RA risk.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 1","pages":"1-23"},"PeriodicalIF":2.3,"publicationDate":"2024-11-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12701","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142619959","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":"Associations Between Interleukin-10 Polymorphisms and Susceptibility to Sjögren's Syndrome: A Meta-Analysis","authors":"Young Ho Lee,&nbsp;Gwan Gyu Song","doi":"10.1111/iji.12702","DOIUrl":"10.1111/iji.12702","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>This study sought to investigate the association between <i>interleukin-10</i> (<i>IL10</i>) polymorphisms and susceptibility to Sjögren's syndrome. A systematic search of the Medline, Embase and Web of Science databases was conducted to identify relevant articles from inception to April 2024. No restrictions were placed on race, ethnicity or geographic area, but only studies published in English were included. A meta-analysis was conducted to evaluate the association among the <i>IL10</i>-1082 G/A (rs1800896), -819 C/T (rs1800871) and -592 C/A (rs1800872) polymorphisms, as well as their haplotypes and the risk of developing Sjögren's syndrome. The included studies involved 998 Sjögren's syndrome patients and 1576 controls. Ten studies were included in the meta-analysis. Meta-analysis of the <i>IL10</i>-1082 G/A polymorphism revealed no significant association with Sjögren's syndrome (odds ratio [OR] = 1.115, 95% confidence interval [CI]: 0.888–1.401, <i>p</i> = 0.343), with stratification by ethnicity yielding consistent results for Europeans and Latin Americans. Similarly, the <i>IL10</i>-819 C/T polymorphism was not associated with Sjögren's syndrome in any study subjects (OR = 0.859, 95% CI: 0.648–1.138, <i>p</i> = 0.290). The <i>IL10</i>-592 C allele also exhibited no association with Sjögren's syndrome (OR = 1.131, 95% CI: 0.776–1.646, <i>p</i> = 0.522). However, the GCC carrier status demonstrated a significant association with Sjögren's syndrome across all study subjects (OR = 1.496, 95% CI: 1.200–1.865, <i>p</i> &lt; 0.001), particularly in Europeans (OR = 1.444, 95% CI: 1.085–1.921, <i>p</i> = 0.012) and Latin Americans (OR = 1.324, 95% CI: 1.115–2.366, <i>p</i> = 0.012). A significant protective effect of the homozygous ATA/ATA haplotype on Sjögren's syndrome was found in Europeans (OR = 0.320, 95% CI: 0.121–0.846, <i>p</i> = 0.022).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <p>This meta-analysis indicates a significant link between carrying the GCC haplotype of the <i>IL10</i>-1082 G/A, -819 C/T and -592 C/A polymorphisms and an increased susceptibility to Sjögren's syndrome. Conversely, the homozygous ATA/ATA haplotype appears to confer protection against the risk of Sjögren's syndrome, particularly in European populations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"52 1","pages":"24-32"},"PeriodicalIF":2.3,"publicationDate":"2024-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12702","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142604183","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}