International Journal of Immunogenetics最新文献

{"title":"Reduced human leukocyte antigen mismatching is associated with more favourable outcomes after unrelated donor haematopoietic stem cell transplantation","authors":"Beatrice Valatkaite-Rakstiene,&nbsp;Rita Cekauskiene,&nbsp;Tadas Zvirblis,&nbsp;Arturas Jakubauskas","doi":"10.1111/iji.12651","DOIUrl":"10.1111/iji.12651","url":null,"abstract":"<p>The patient–donor human leukocyte antigen (HLA) match remains the most important prognostic factor for successful unrelated donor haematopoietic stem cell transplantation (UD-HSCT). This single-centre study comprised 125 adult patients with malignant haematological diseases undergoing their first UD-HSCT. The primary goal of this study was to validate the impact of HLA matching on HSCT outcomes, specifically at the HLA-DPB1 and HLA-DRB3/4/5 loci. A multivariable Cox regression analysis with a backward selection algorithm was employed to assess the associations of selected prognostic factors with outcomes after UD-HSCT. Any HLA locus mismatch was found to be associated with an increased incidence of grade II–IV acute graft versus host disease (aGvHD) at 100 days (<i>p</i> = .031; hazard ratio [HR] 1.935) and 6 months (<i>p</i> = .004; HR 2.284) after HSCT. The results of the following analyses also confirmed the strong impact of HLA-DPB1-only mismatch on the incidence of grade II–IV aGvHD at 100-day (<i>p</i> = .006; HR 2.642) as well as at 6-month (<i>p</i> = .007; HR 2.401) time periods. The HLA-DPB1-only mismatch was also shown to be statistically significantly associated with lower relapse incidence (<i>p</i> = .034; HR 0.333). The impact of the HLA-DRB3/4/5 mismatch on outcomes was inconclusive, though the two and more HLA-DPB1 + DRB3/4/5-only mismatches showed a trend towards worse outcomes than a single mismatch. Based on our findings and those of more comprehensive studies, the extended HLA loci typing of patients and donors is suggested to avoid unexpected HLA mismatches during the UD selection.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 2","pages":"63-71"},"PeriodicalIF":2.2,"publicationDate":"2024-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139110882","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":"UK NEQAS and BSHI guideline: Laboratory testing and clinical interpretation of HLA genotyping results supporting the diagnosis of coeliac disease","authors":"Deborah Pritchard,&nbsp;Arthi Anand,&nbsp;Amy De'Ath,&nbsp;Helena Lee,&nbsp;Margaret Tracey Rees","doi":"10.1111/iji.12649","DOIUrl":"10.1111/iji.12649","url":null,"abstract":"<p>Coeliac disease is a common immune-mediated inflammatory disorder caused by dietary gluten in genetically susceptible individuals. While the diagnosis of coeliac disease is based on serological and histological criteria, HLA-DQ genotyping can be useful, especially in excluding the diagnosis in patients who do not carry the relevant DQ heterodimers: <i>DQA1*05 DQB1*02, DQB1*03:02</i> or <i>DQA1*02 DQB1*02</i> (commonly referred to as DQ2.5, DQ8 and DQ2.2, respectively). External quality assessment results for HLA genotyping in coeliac disease have revealed concerning errors in HLA genotyping, reporting and clinical interpretation. In response, these guidelines have been developed as an evidence-based approach to guide laboratories undertaking HLA genotyping for coeliac disease and provide recommendations for reports to standardise and improve the communication of results.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 S1","pages":"3-20"},"PeriodicalIF":2.2,"publicationDate":"2023-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139048639","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":"The correlation between soluble human leukocyte antigen (sHLA-G) levels and +3010 polymorphism","authors":"Ahmed Alyami,&nbsp;Abdullah AlJurayyan,&nbsp;Bandar Alosaimi,&nbsp;Haitham Alkadi,&nbsp;Fadwa Alkhulaifi,&nbsp;Haya Al-jurayb,&nbsp;Awad Osman,&nbsp;Steve Christmas,&nbsp;Suliman Alomar,&nbsp;Zaid Al-Bayati","doi":"10.1111/iji.12648","DOIUrl":"10.1111/iji.12648","url":null,"abstract":"<p>Human leukocyte antigen-G (HLA-G) is classified as non-classical HLA, located in the short arm of chromosome 6 and composed of seven introns and eight exons. The HLA-G gene has a lower frequency polymorphism in the coding area and higher variability at the regulatory 5′- and 3′-untranslated regions linked to HLA-G microRNA regulation. HLA-G molecule is known to have an immunomodulatory and tolerogenic features role. In 199 Saudi individuals, we examined the association between plasma soluble HLA-G (sHLA-G) levels and eight polymorphic different sites, including 14 bp ins/del/+3003T-C/+3010C-G/+3027C-A/+3035C-T/+3142C-G/+3187A-G/+3196C-G single nucleotide polymorphisms (SNPs) in exon 8 in the HLA-G gene. Our results revealed higher frequency for rs17179101C (97%), rs1707T (92%) and rs9380142A (73%) alleles. Greater frequencies for the tested genotypes were observed in 3027C/C (rs17179101) (93%), 14 bp (rs1704) ins/del (92%), +3003T/T (rs1707) (85%) and +3035C/T (rs17179108) (79%) SNP genotypes. Moreover, we observed a significant association of sHLA-G with +3010G/C (rs1710) SNP. In conclusion, we showed a significant association between 3010G/C (rs1710) SNP and the sHLA-G level among our sample for Saudi populations. Our findings demonstrated that specific SNP within the HLA-G gene is linked to sHLA-G molecule secretion, suggesting sHLA-G levels may be regulated genetically.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 1","pages":"39-46"},"PeriodicalIF":2.2,"publicationDate":"2023-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12648","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138629526","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":"Leukocyte immunoglobulin-like receptor A3 gene deletion in five Chinese populations and protective association with nasopharyngeal carcinoma","authors":"Wei Tian,&nbsp;Li Xin Li,&nbsp;Wen Cheng,&nbsp;He Kun Jin,&nbsp;Sha Shuang Zhang","doi":"10.1111/iji.12647","DOIUrl":"10.1111/iji.12647","url":null,"abstract":"<p>Among the thirteen leukocyte Ig-like receptor (LILR) loci located at 19q13.4, LILRA3 is unique in that it encodes a soluble protein lacking the transmembrane and cytoplasmic domains, and a 6.7 kb deletion spanning the first seven exons has been detected in some human individuals. Presently, there is a lack of data about the distribution of LILRA3 gene deletion in more diverse ethnic groups. Also, no previous studies have investigated the correlation between copy number variation (CNV) of LILRA3 and nasopharyngeal carcinoma (NPC). In this study, five populations from China mainland: two Southern Han populations, Hunan (N = 1478) and Guandong (N = 107); one Southeastern Han population, Fujian (N = 439); and two Northern populations, Inner Mongolia Han (N = 104) and Mongol population from Inner Mongolia (N = 158) were investigated for CNV of LILRA3 using polymerase chain reaction-sequence-specific priming (PCR-SSP) method. LILRA3 variants were also examined in a cohort of NPC cases (N = 1142) in Hunan Han population. The five Chinese populations demonstrated northward increase in frequency of the deleted form of LILRA3 gene (LILRA3*Del) (all corrected <i>p</i> values &lt; 0.05). Inter-population comparison also uncovered significant differentiation in the distribution of CNV of LILRA3 among modern human populations. LILRA3*Del was found to confer significantly reduced risk to NPC in Hunan Han population (at allelic level: OR = 0.79, 95% CI = 0.71–0.89, <i>p</i> &lt; 0.0001; at genotype level: OR = 0.63, 95% CI = 0.51–0.79, <i>p</i> &lt; 0.0001). No interaction was found between LILRA3 variants and HLA-A*02:07, HLA-A*11:01, HLA-B*13 and HLA-B*46:01 alleles in susceptibility to NPC. Our study constitutes the first demonstration of LILRA3 gene as a locus linked to NPC susceptibility in a southern Chinese population. Future independent studies in other populations are warranted to confirm the findings reported in this study.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 1","pages":"32-38"},"PeriodicalIF":2.2,"publicationDate":"2023-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138444609","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":"CCR5 promoter region polymorphisms in systemic lupus erythematosus","authors":"Juliana da Silveira Schauren,&nbsp;Amanda Henrique de Oliveira,&nbsp;Camila Rosat Consiglio,&nbsp;Odirlei André Monticielo,&nbsp;Ricardo Machado Xavier,&nbsp;Natália Schneider Nunes,&nbsp;Joel Henrique Ellwanger,&nbsp;José Artur Bogo Chies","doi":"10.1111/iji.12646","DOIUrl":"10.1111/iji.12646","url":null,"abstract":"<p>This study investigated the impacts of <i>CCR5</i> promoter region polymorphisms on the development of systemic lupus erythematosus (SLE) by comparing <i>CCR5</i> genotypes and haplotypes from SLE patients with ethnically matched controls. A total of 382 SLE patients (289 European-derived and 93 African-derived) and 375 controls (243 European-derived and 132 African-derived) were genotyped for the CCR2-64I G &gt; A (rs1799864), CCR5-59353 C &gt; T (rs1799988), CCR5-59356 C &gt; T (rs41469351), CCR5-59402 A &gt; G (rs1800023) and CCR5-59653 C &gt; T (rs1800024) polymorphisms through polymerase chain reaction-restriction fragment length polymorphism and direct sequencing. Previous data from CCR5Δ32 analysis was included in the study to infer the <i>CCR5</i> haplotypes and as a possible confounding factor in the binary logistic regression. European-derived patients showed a higher frequency of CCR5 wild-type genotype (conversely, a reduced frequency of Δ32 allele) and a reduced frequency of the HHG*2 haplotype compared to controls; both factors significantly affecting disease risk [<i>p</i> = .003 (OR 3.5, 95%CI 1.6–7.5) and 2.0% vs. 7.2% (residual <i>p</i> = 2.9E − 5), respectively]. Additionally, the HHA/HHB, HHC and HHG*2 haplotype frequencies differed between African-derived patients and controls [10% vs. 20.5% (residual <i>p</i> = .003), 29.4% vs. 17.4% (residual <i>p</i> = .003) and 3.9% vs. 0.8% (residual <i>p</i> = .023), respectively]. Considering the clinical manifestations of the disease, the CCR5Δ32 presence was confirmed as a susceptibility factor to class IV nephritis in the African-derived group and when all patients were grouped for comparison [<i>p</i>_corrected = .012 (OR 3.0; 95%CI 3.0–333.3) and <i>p</i>_corrected = .0006 (OR 6.8; 95%CI 1.9–24.8), respectively]. In conclusion, this study indicates that <i>CCR5</i> promoter polymorphisms are important disease modifiers in SLE. Present data reinforces the CCR5Δ32 polymorphism as a protective factor for the development of the disease in European-derived patients and as a susceptibility factor for class IV nephritis in African-derived patients. Furthermore, we also described a reduced frequency of HHA/HHB and an increased frequency of HHC and HHG*2 haplotypes in African-derived patients, which could modify the CCR5 protein expression in specific cell subsets.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 1","pages":"20-31"},"PeriodicalIF":2.2,"publicationDate":"2023-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138176166","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":"CCR5 promoter polymorphisms associated with nonsmall cell lung cancer","authors":"Tianchang Lu,&nbsp;Yuhan Shi,&nbsp;Minyi Wang,&nbsp;Weipeng Liu,&nbsp;Yang Cao,&nbsp;Li Shi,&nbsp;Qianli Ma,&nbsp;Shuyuan Liu","doi":"10.1111/iji.12644","DOIUrl":"10.1111/iji.12644","url":null,"abstract":"<p>C–C chemokine receptor 5 (CCR5) plays a crucial role in the regulation of immune cell activation and migration as well as the progression of many cancers. We performed an in silico analysis using public data resources and found that the lung cancer patients with higher CCR5 expression had a notably better overall survival than those with lower CCR5 expression patients and CCR5 expression level is positive correlated with the infiltration of immune cells, such as B, CD8⁺ T and CD4⁺ T cells, in both lung adenocarcinoma and lung squamous cell cancer. In the present study, we investigated the association between the promoter polymorphism of <i>CCR5</i> and nonsmall cell lung cancer (NSCLC). A case‒control study of 449 NSCLC patients and 516 controls of Chinese Han population was conducted, along with polymorphism detection using a sequencing method. A dual-luciferase reporter assay system was used to analyse the transcriptional activity of <i>CCR5</i> promoter variations. Our results showed that the frequency of rs1799987-AA was significantly higher in the NSCLC group than in the controls in recessive model (<i>p</i> = .007, OR = 1.66 95% confidence interval [CI]: 1.14–2.40, adjusted by sex and age); the G allele showed a significant associated with NSCLC in dominant model (<i>p</i> = .003, OR = 1.64, 95%CI: 1.18–2.28, adjusted by sex and age). Compared with haplotype H1 rs2227010–rs2734648–rs1799987–rs1799988–rs1800023–rs1800024: A-T-G-T-G-C, haplotype H5: A-G-G-T-G-C increased the risk of NSCLC by over 10-fold (<i>p</i> &lt; .0001, OR = 16.09, 95%CI: 5.37–48.20, adjusted by sex and age) and notably depressed the transcriptional activity of the <i>CCR5</i> promoter in 293T, A549, H1299 and HeLa cells. In conclusion, <i>CCR5</i> promoter polymorphisms are significantly associated with NSCLC by affecting the transcriptional activity of the <i>CCR5</i> promoter.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 1","pages":"10-19"},"PeriodicalIF":2.2,"publicationDate":"2023-11-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"92153782","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":"Are the cut-offs of the rheumatoid factor and anti-cyclic citrullinated peptide antibody different to distinguish rheumatoid arthritis from their primary differential diagnoses?","authors":"Rita Angélica Pineda-Sic,&nbsp;David Vega-Morales,&nbsp;Leticia Santoyo-Fexas,&nbsp;Mario Alberto Garza-Elizondo,&nbsp;Andrés Mendiola-Jiménez,&nbsp;Karina Itzel González Marquez,&nbsp;Berenice Carrillo-Haro","doi":"10.1111/iji.12643","DOIUrl":"10.1111/iji.12643","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Objective: Rheumatoid factor (RF) and anti-cyclic citrullinated peptide antibody (anti-CCP) are commonly used for diagnosis of rheumatoid arthritis (RA), although other rheumatic diseases with arthritis can test positive. This study aimed to determine the cutoff values for RF and anti-CCP with the best diagnostic performance in a sample of patients with RA, compared with other rheumatic diseases.</p>\u0000 \u0000 <p>Methods: This was a descriptive, prospective study. EUROINMMUN enzyme-linked immunosorbent assays for RF isotypes immunoglobulin (Ig) A (IgA), IgG and IgM and third-generation assay IgG for anti-CCP were used in serum samples of patients with RA, other rheumatic diseases and healthy subjects. The cutoff with the best diagnostic performance was determined by the Youden Index and receiver operating characteristic analysis</p>\u0000 \u0000 <p>Results: Three hundred and thirty-two serum samples were analysed. The cutoffs proposed in our population were for RF in RA patients versus other rheumatic diseases, and healthy subjects IgM 135 IU/mL, for each disease, compared with RA, were psoriatic arthritis (Psa) IgA 47.2 IU/mL, clinically suspicious arthralgia (CSA) IgA 39.5 IU/mL, primary Sjögren's syndrome (pSS) IgM 180.6 IU/mL, systemic lupus erythematosus (SLE) IgA 42.6 IU/mL, primary fibromyalgia (pFM) IgM 68.6 IU/mL, osteoarthritis (OA) IgM 48 IU/mL, gout IgM 117 IU/mL and healthy IgM 16.3 IU/mL. For anti-CCP, in RA patients versus other rheumatic diseases, and healthy subjects 6.95 IU/mL, for each disease, compared with RA, were Psa 6.8 IU/mL, CSA 9.95 IU/mL, pSS 20.7 IU/mL, SLE 6 IU /mL, pFM 11.8 IU/mL, OA 11.9 IU/mL, gout 5 IU/mL and healthy 5 IU/mL.</p>\u0000 \u0000 <p>Conclusion: Irrespective of the manufacturer's suggested cutoff, the RA versus differential diagnosis cutoffs must be considered.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 1","pages":"1-9"},"PeriodicalIF":2.2,"publicationDate":"2023-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71481262","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":"BSHI and BTS UK guideline on the detection of alloantibodies in solid organ (and islet) transplantation","authors":"Richard Battle,&nbsp;Deborah Pritchard,&nbsp;Sarah Peacock,&nbsp;Catherine Hastie,&nbsp;Judith Worthington,&nbsp;Sue Jordan,&nbsp;Jennifer A McCaughlan,&nbsp;Martin Barnardo,&nbsp;Rebecca Cope,&nbsp;Claire Collins,&nbsp;Natalia Diaz-Burlinson,&nbsp;Carla Rosser,&nbsp;Luke Foster,&nbsp;Delordson Kallon,&nbsp;Olivia Shaw,&nbsp;David Briggs,&nbsp;David Turner,&nbsp;Arthi Anand,&nbsp;Arash Akbarzad-Yousefi,&nbsp;Deborah Sage","doi":"10.1111/iji.12641","DOIUrl":"10.1111/iji.12641","url":null,"abstract":"<p>Solid organ transplantation represents the best (and in many cases only) treatment option for patients with end-stage organ failure. The effectiveness and functioning life of these transplants has improved each decade due to surgical and clinical advances, and accurate histocompatibility assessment. Patient exposure to alloantigen from another individual is a common occurrence and takes place through pregnancies, blood transfusions or previous transplantation. Such exposure to alloantigen's can lead to the formation of circulating alloreactive antibodies which can be deleterious to solid organ transplant outcome. The purpose of these guidelines is to update to the previous BSHI/BTS guidelines 2016 on the relevance, assessment, and management of alloantibodies within solid organ transplantation.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 S2","pages":"3-63"},"PeriodicalIF":2.2,"publicationDate":"2023-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12641","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"71423405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nomenclature for factors of the HLA system, update July, August and September 2023","authors":"Steven G. E. Marsh,&nbsp;for the WHO Nomenclature Committee for Factors of the HLA System","doi":"10.1111/iji.12642","DOIUrl":"10.1111/iji.12642","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 6","pages":"316-344"},"PeriodicalIF":2.2,"publicationDate":"2023-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"54228944","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":"Familial Mediterranean fever and microRNAs","authors":"Aslihan Esra Bildirici","doi":"10.1111/iji.12640","DOIUrl":"10.1111/iji.12640","url":null,"abstract":"<p>Familial Mediterranean fever (FMF) is an inherited disorder caused by the gain of function mutations in <i>MEFV (MEditerranean FeVer)</i> gene loci. FMF affects more than 100,000 people worldwide and generally seen in the eastern Mediterranean region and causes the lifelong diseases which have a significant effect on the patient's life quality and health systems. The identification of low penetrant or heterozygous <i>MEFV</i> gene mutations in clinically diagnosed FMF patients was considered that epigenetic or environmental factors may display a role in FMF pathogenesis. Epigenetics might be defined as heritable changes that affect gene expression without any changes in the genome. MicroRNAs (miRNAs) are the main group of small noncoding RNAs, and an important element of epigenetic mechanisms and their discoveries revolutionized our knowledge about biological processes, such as malignant, infectious and autoimmune mechanisms, and contributed to the development of the epigenetic areas. In this review, the studies focusing on the roles of miRNAs in FMF pathogenesis in the last decades were examined and the importance of miRNAs as therapeutic agents which are promising for diagnosis and treatment was discussed.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 6","pages":"273-280"},"PeriodicalIF":2.2,"publicationDate":"2023-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12640","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41129592","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}