International Journal of Immunogenetics最新文献

{"title":"Associations Between Interleukin-10 Polymorphisms and Susceptibility to Sjögren's Syndrome: A Meta-Analysis.","authors":"Young Ho Lee, Gwan Gyu Song","doi":"10.1111/iji.12702","DOIUrl":"10.1111/iji.12702","url":null,"abstract":"<p><p>This study sought to investigate the association between interleukin-10 (IL10) 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 IL10-1082 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 IL10-1082 G/A polymorphism revealed no significant association with Sjögren's syndrome (odds ratio [OR] = 1.115, 95% confidence interval [CI]: 0.888-1.401, p = 0.343), with stratification by ethnicity yielding consistent results for Europeans and Latin Americans. Similarly, the IL10-819 C/T polymorphism was not associated with Sjögren's syndrome in any study subjects (OR = 0.859, 95% CI: 0.648-1.138, p = 0.290). The IL10-592 C allele also exhibited no association with Sjögren's syndrome (OR = 1.131, 95% CI: 0.776-1.646, p = 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, p < 0.001), particularly in Europeans (OR = 1.444, 95% CI: 1.085-1.921, p = 0.012) and Latin Americans (OR = 1.324, 95% CI: 1.115-2.366, p = 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, p = 0.022). This meta-analysis indicates a significant link between carrying the GCC haplotype of the IL10-1082 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>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"24-32"},"PeriodicalIF":2.3,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","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, Fatemeh Zahra Mohammadzadeh","doi":"10.1111/iji.12701","DOIUrl":"10.1111/iji.12701","url":null,"abstract":"<p><p>This study aims to investigate the association of rs11203366, rs11203367, rs874881, rs2240340 and rs1748033 polymorphisms of protein-arginine deiminase type 4 (PADI4) 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, p = 0.003; GG + CG vs. CC: OR = 2.02, 95% CI = 1.41-2.89, p = 0.0001; CG vs. CC + GG: OR = 1.38, 95% CI = 1.04-1.83, p = 0.027; GG vs. CC: OR = 2.09, 95% CI = 1.35-3.23, p = 0.001; CG vs. CC: OR = 1.98, 95% CI = 1.36-2.87, p = 0.00033) and rs1748033 in Caucasian population (T vs. C: OR = 1.25, 95% CI = 1.07-1.45, p = 0.005; TT vs. CT + CC: OR = 1.34, 95% CI = 1.09-1.64, p = 0.005, TT + CT vs. CC: OR = 1.26, 95% CI = 1.09-1.44, p = 0.001; TT vs. CC: OR = 1.59, 95% CI = 1.13-2.23, p = 0.007; CT vs. CC: OR = 1.20, 95% CI: 1.04-1.39, p = 0.015) are associated with increased risk of RA. Moreover, rs11203366 (G vs. A: OR = 1.46, 95% CI = 1.19-1.78, p = 0.0002, GG vs. AG + AA: OR = 1.42, 95% CI = 1.01-2.01, p = 0.043; GG + AG vs. AA: OR = 2.03, 95% CI = 1.45-2.86, p = 0.00004; GG vs. AA: OR = 2.29, 95% CI = 1.49-3.51, p = 0.0002; AG vs. AA: OR = 1.93, 95% CI = 1.35-2.76, p = 0.0003) and rs11203367 (T vs. C: OR = 1.50, 95% CI = 1.23-1.83, p = 0.00007; TT vs. CT + CC: OR = 1.56, 95% CI = 1.12-2.18, p = 0.009; TT + CT vs. CC: OR = 2.02, 95% CI = 1.43-2.84, p = 0.00007, TT vs. CC: OR = 2.43, 95% CI = 1.59-3.71, p = 0.0004; CT vs. CC: OR = 1.86, 95% CI = 1.30-2.68, p = 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":" ","pages":"1-23"},"PeriodicalIF":2.3,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","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, Siqi Yuan, Wenqiang Kang, Xiangyuan Deng, Hang Zhou, Jiangyi Ruan, Xianhong Feng, Meifang Qi, Bifeng Chen","doi":"10.1111/iji.12705","DOIUrl":"10.1111/iji.12705","url":null,"abstract":"<p><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 IL4 gene rs2070874, IL4RA gene rs1801275, IL18 gene rs187238, IL18RAP gene rs917997, IL17A gene rs8193036, IL23R gene rs1884444 and IL23R 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. IL4 gene rs2070874, IL18RAP gene rs917997, IL17A gene rs8193036 and IL23R gene rs1884444 may serve as the susceptible factors for GC carcinogenesis in Chinese population. IL4 gene rs2070874 in total population, IL4RA gene rs1801275 in Asian population and IL18 gene rs187238 in Chinese population may be genetic biomarkers for CRC susceptibility.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"39-55"},"PeriodicalIF":2.3,"publicationDate":"2025-02-01","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, Pankti Mehta, Rekha Aaron, Debashish Danda, Sumita Danda, Jayakanthan Kabeerdoss","doi":"10.1111/iji.12704","DOIUrl":"10.1111/iji.12704","url":null,"abstract":"<p><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>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":"33-38"},"PeriodicalIF":2.3,"publicationDate":"2025-02-01","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":"Nomenclature for Factors of the HLA System, Update October, November and December 2024.","authors":"Steven G E Marsh","doi":"10.1111/iji.12707","DOIUrl":"https://doi.org/10.1111/iji.12707","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":""},"PeriodicalIF":2.3,"publicationDate":"2025-01-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","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, Gaurav Sharma, Alka Khadwal, Pankaj Malhotra","doi":"10.1111/iji.12706","DOIUrl":"https://doi.org/10.1111/iji.12706","url":null,"abstract":"<p><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) (>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 (-) (p < 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>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":""},"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":"Nomenclature for factors of the HLA system, update July, August and September 2024","authors":"Steven G. E. Marsh,&nbsp;for the WHO Nomenclature Committee for Factors of the HLA System","doi":"10.1111/iji.12699","DOIUrl":"10.1111/iji.12699","url":null,"abstract":"<p>The following sequences have been submitted to the Nomenclature Committee since the April, May and June 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. An additional 221 alleles were recently published but have not been included in Table 3 due to space considerations (French et al., <span>2024</span>; Lucas et al, <span>2024</span>).</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 et al., <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>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 6","pages":"397-432"},"PeriodicalIF":2.3,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12699","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142499924","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":"Role of C–C chemokine receptor type 5 in pathogenesis of malaria and its severe forms","authors":"Marina Ziliotto,&nbsp;Joel Henrique Ellwanger,&nbsp;Bruna Kulmann-Leal,&nbsp;Alessandra Pontillo,&nbsp;José Artur Bogo Chies","doi":"10.1111/iji.12700","DOIUrl":"10.1111/iji.12700","url":null,"abstract":"<p>Malaria is a mosquito-borne disease caused by <i>Plasmodium</i> parasites, responsible for a significant impact on public health in several tropical and sub-tropical countries. The majority of infection cases are classified as uncomplicated malaria, causing mild symptoms such as fever and headache. However, the disease may progress to severe malaria and death if the infection is not properly treated. Furthermore, malaria poses a major concern for children, pregnant women and immunosuppressed individuals. Exacerbated inflammation is characteristic of severe malaria cases. The C–C chemokine receptor type 5 (CCR5) is an important molecule for leukocyte migration and regulation of inflammation. Although widely known as an HIV-1 co-receptor, CCR5 also affects the susceptibility and progression of autoimmune and inflammatory diseases. There is evidence supporting the participation of CCR5 in malaria manifestations, with the evaluation of <i>CCR5</i> gene expression levels suggested as a marker to monitor malaria severity. Certain genetic variants in the <i>CCR5</i> gene affect CCR5 expression, potentially altering CCR5-mediated inflammatory responses during malaria infection. However, the complex influences of CCR5 on malaria remain underexplored. Therefore, this review examines and updates the role of CCR5 in various contexts of malaria infection, including uncomplicated malaria, <i>Plasmodium</i>/HIV co-infection, pregnancy and severe (cerebral) malaria.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 6","pages":"369-379"},"PeriodicalIF":2.3,"publicationDate":"2024-10-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12700","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142499925","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":"Does HLA-DQA1*05 carriage have a greater impact on the outcome of infliximab therapy for isolated small-bowel Crohn's disease?","authors":"Juan Wu,&nbsp;Nannan Zhu,&nbsp;Jing Hu,&nbsp;Chenyu Zhang,&nbsp;Yuanyuan Fang,&nbsp;Yumei Wu,&nbsp;Yongrong Shi,&nbsp;Qiuyuan Liu,&nbsp;Hao Ding,&nbsp;Qiao Mei,&nbsp;Bingqing Bai,&nbsp;Wei Han","doi":"10.1111/iji.12696","DOIUrl":"10.1111/iji.12696","url":null,"abstract":"<p>Carriage of HLA-DQA1*05 is thought to increase the formation of anti-tumour necrosis factor alpha (TNF-α) antibodies, reducing the drug efficacy in Crohn's disease (CD) patients. However, little data are currently available for small-bowel Crohn's disease (SB-CD). A specific assessment of the impact of HLA-DQA1*05 on the clinical response to treatment with infliximab (IFX), a TNF-α antagonists, in SB-CD patients is necessary. We conducted a single-center retrospective study that included 106 SB-CD patients treated with IFX. The serum samples were collected for antibodies to infliximab (ATI) testing and HLA-DQA1*05 genotyping. Double-balloon enteroscopy (DBE) was performed following the IFX treatment, with endoscopic outcomes evaluated using the partial simple endoscopic score for CD (pSES-CD), whereas the clinical response was assessed with the Crohn's disease activity index (CDAI). Multivariate logistic regression and multivariate COX regression analyses were employed to analyze the correlation of the HLA-DQA1*05 genotypes with other clinical variables. In this study, 30.2% of SB-CD patients carried the HLA-DQA1*05 allele, which significantly increased their risk of ATI generation (odds ratio [OR] = 2.337, p = .043), but it was not associated with the clinical response to IFX and drug persistence (OR = 2.356, p = .145; OR = 0.457, p = .249). The endoscopic remission rates were 40.6% (13/32) and 55.4% (41/74) in HLA-DQA1*05 carriers and non-carriers, respectively. HLA-DQA1*05 was not associated with endoscopic remission (OR = 0.684, p = .414). The HLA-DQA1*05 variant is identified as a significant risk factor of ATI formation in Chinese patients with SB-CD, but is not associated with the clinical response of IFX treatment and endoscopic remission of SB lesions.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 6","pages":"380-387"},"PeriodicalIF":2.3,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464643","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":"Investigations of associations between TNF-α promoter polymorphisms and genetic susceptibility to type 2 diabetes mellitus: A cross-sectional study in Chinese Han population","authors":"Wenyu Tao,&nbsp;Xiaoling Wang,&nbsp;Man Yang,&nbsp;Xing Zhou,&nbsp;Mingliu Yin,&nbsp;Ying Yang,&nbsp;Yiping Li","doi":"10.1111/iji.12698","DOIUrl":"10.1111/iji.12698","url":null,"abstract":"<p>Type 2 diabetes (T2DM) is characterised by insulin resistance and a relative shortage of insulin secretion. Tumour necrosis factor-α (TNF-α) plays an important role in insulin resistance by impairing insulin signal transduction. The variants of the TNF-α promoter region are considered to influence its transcription and are associated with the TNF-α level. Therefore, it is worth detecting the association of the variants in the TNF-α gene with the development of T2DM. The aim of this study was to investigate the association of five variants (rs1799964, rs1800630, rs1799724, rs1800629 and rs361525) in the TNF-α gene promoter region with T2DM in a Chinese Han population. A total of 713 subjects with T2DM and 751 nondiabetic subjects were genotyped using the TaqMan method. The associations of the five variants with the development of T2DM were evaluated. The associations of the five variant genotypes with metabolic traits in nondiabetic subjects were analysed. Our data showed that the A allele of rs1800629 could increase the risk of developing T2DM (<i>p</i> = .002, OR = 1.563; 95% CI: 1.18–2.08). According to inheritance mode analysis, compared with the G/G genotype, the G/A+2A/A genotype of rs1800629 showed a risk effect on T2DM in the log-additive mode (<i>p</i> = .002, OR = 1.56; 95% CI: 1.17–2.07). The haplotypes analysis identified that the rs1799724-rs1800629CA was associated with high risk of the development of T2DM (<i>p</i> = .002, OR = 1.559, 95% CI: 1.173–2.072). Conversely, the rs1799724-rs1800629CG was a protective haplotype of T2DM (<i>p</i> = .001, OR = 0.732, 95% CI: 0.607–0.884). Moreover, compared with the rs1799964 (T/T+C/T) genotype, the rs1799964 C/C genotype was associated with higher glycosylated haemoglobin (HbA1c) levels in nondiabetic subjects (<i>p</i> = .017). Our results revealed that the rs1800629 in the TNF-α gene promoter region was associated with T2DM in a Chinese Han population.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 6","pages":"388-396"},"PeriodicalIF":2.3,"publicationDate":"2024-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142464644","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}