International Journal of Immunogenetics最新文献

{"title":"Solute carrier family 11 member 1 genetic polymorphisms rs17235409 and rs3731865 associate with susceptibility to extremity post-traumatic osteomyelitis in a Chinese Han population","authors":"Nan Jiang,&nbsp;Yong-Cong Zhong,&nbsp;Qing-Rong Lin,&nbsp;Chen-Sheng Song,&nbsp;Bin Yu,&nbsp;Yan-Jun Hu","doi":"10.1111/iji.12620","DOIUrl":"10.1111/iji.12620","url":null,"abstract":"<p>Genetic variations in the <i>solute carrier family 11 member 1</i> (<i>SLC11A1</i>) gene have been implicated in developing inflammatory disorders. However, it is still unclear whether such polymorphisms contribute to the pathogenesis of post-traumatic osteomyelitis (PTOM). Therefore, this study investigated the roles of genetic variations of the <i>SLC11A1</i> gene (rs17235409 and rs3731865) in PTOM development in a Chinese Han cohort. The SNaPshot method was used for genotyping 704 participants (336 patients and 368 controls) for rs17235409 and rs3731865. Outcomes revealed that rs17235409 increased the risk of PTOM occurrence by dominant (<i>p</i> = .037, odds ratio [OR] = 1.44) and heterozygous models (<i>p</i> = .035, OR = 1.45), implying AG genotype as a risk factor for PTOM development. In addition, patients with AG genotype had relatively higher levels of inflammatory biomarkers than those with AA and GG genotypes, especially for the white blood cell count and C-reactive protein. Despite no statistically significant differences achieved, rs3731865 may reduce the PTOM susceptibility, suggested by the results of dominant (<i>p</i> = .051, OR = 0.67) and heterozygous (<i>p</i> = .068, OR = 0.69) models. In short, rs17235409 confers an elevated chance of developing PTOM, with AG genotype as a risk factor. Whether rs3731865 involves in the pathogenesis of PTOM requires further investigations.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 3","pages":"127-133"},"PeriodicalIF":2.2,"publicationDate":"2023-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9532976","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":"Investigation of the relationship between IL17A, IL17F and ILR1N polymorphisms and COVID-19 severity: The predictive role of IL17A rs2275913 polymorphism in the clinical course of COVID-19","authors":"Gunes Cakmak Genc,&nbsp;Sevim Karakas Celik,&nbsp;Busra Yilmaz,&nbsp;Nihal Piskin,&nbsp;Bulent Altinsoy,&nbsp;Ahmet Dursun","doi":"10.1111/iji.12619","DOIUrl":"10.1111/iji.12619","url":null,"abstract":"<p>Coronavirus disease 2019 (COVID-19) is an infectious respiratory disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Although the mortality rate of the disease has been relatively under control as of 2022, more than 15 million confirmed COVID-19 cases have been detected in Turkey to date, causing more than 100,000 deaths. The clinical manifestation of the disease varies widely, ranging from asymptomatic to acute respiratory distress syndrome causing death. The immune response mechanisms have an important impact on the fine adjustment between healing and enhanced tissue damage. This study aims to investigate the relationship between the variants of the <i>interleukin 1 receptor antagonist (IL1RN), interleukin 17A (IL17A)</i>, and <i>interleukin 17F (IL17F)</i> genes and COVID-19 severity. The study population comprised 202 confirmed COVID-19 cases divided into three groups according to severity. The <i>IL1RN</i> variable number of a tandem repeat (VNTR) polymorphism was genotyped by polymerase chain reaction (PCR), and <i>IL17A</i> rs2275913, <i>IL17F</i> rs763780 and rs2397084 polymorphisms were genotyped by the PCR-based restriction fragment length polymorphism method. Statistical analysis revealed a significant association between <i>IL17A</i> rs2275913 variant and COVID-19 severity. The AA genotype and the A allele of <i>IL17A</i> rs2275913 were found significant in the severe group. Additionally, we found a significant relationship between haplotype frequency distributions and severity of COVID-19 for the <i>IL17F</i> rs763780/rs2397084 (p = 0.044) and a combination of <i>IL17F</i> rs763780/rs2397084/ <i>IL17A</i> rs2275913 (p = 0.04). The CG and CGA haplotype frequencies were significantly higher in the severe group. <i>IL17A</i> rs2275913, <i>IL17F</i> rs763780 and rs2397084 variants appear to have important effects on the immune response in COVID-19. In conclusion, variants of <i>IL17A</i> rs2275913, <i>IL17F</i> rs763780 and rs2397084 may be the predictive markers for the clinical course and potential immunomodulatory treatment options in COVID-19, a disease that has placed a significant burden on our country.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 3","pages":"117-126"},"PeriodicalIF":2.2,"publicationDate":"2023-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9475090","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":"Research progress of B subfamily of leucocyte immunoglobulin-like receptors in inflammation","authors":"Mengting Zhang,&nbsp;Jun Yang,&nbsp;Jing Zhang,&nbsp;Cuiyuan Huang,&nbsp;Haiyin Liu,&nbsp;Peiyue Zhang,&nbsp;Yuhong Zhai,&nbsp;Li Liu,&nbsp;Jian Yang","doi":"10.1111/iji.12618","DOIUrl":"10.1111/iji.12618","url":null,"abstract":"<p>Leucocyte immunoglobulin-like receptors subfamily B (LILRB) belongs to the type I transmembrane glycoproteins, which is the immunosuppressive receptor. LILRBs are widely expressed in bone marrow cells, hematopoietic stem cells, nerve cells and other body cells. Studies have found that LILRBs receptor can bind to a variety of ligands and has a variety of biological functions such as regulating inflammatory response, immune tolerance and cell differentiation. Inflammatory reaction plays a vital role in resisting microorganisms. The function of inhibitory immune receptors can recognize the signs of infection and promote the function of anti-microbial effect. The inflammatory response must be strictly regulated to prevent excessive inflammation and tissue damage. Therefore, it is of general interest to understand the role of LILRBs in the inflammatory response. Because they can inhibit the anti-microbial response of neutrophils, some human pathogens use these receptors to escape immunity. This article reviews the biological role of LILRBs in the inflammatory response. We focus on the known ligands of LILRBs, their different roles after binding with ligands, and how these receptors help to form neutrophil responses during infection. Recent studies have shown that LILRBs recruit phosphatases through intracellular tyrosine-based immunoreceptor inhibitory motifs to negatively regulate immune activation, thereby transmitting inflammation-related signals, suggesting that LILRBs may be an ideal target for the treatment of inflammatory diseases. Here, we describe in detail the regulation of LILRBs on the inflammatory response, its signal transduction mode in inflammation, and the progress in the treatment of inflammatory diseases, providing a reference for further research.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 3","pages":"107-116"},"PeriodicalIF":2.2,"publicationDate":"2023-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12618","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9478698","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":"Issue Information","authors":"","doi":"10.1176/rcp2.1060","DOIUrl":"https://doi.org/10.1176/rcp2.1060","url":null,"abstract":"","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":" ","pages":""},"PeriodicalIF":2.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44535929","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":"Killer cell immunoglobulin-like receptor three domains long cytoplasmic tail 1 gene *007 may modulate disease progression of human immunodeficiency virus-1 infection in the Japanese population","authors":"Taeko K. Naruse,&nbsp;Makiko Konishi-Takemura,&nbsp;Risa Yanagida,&nbsp;Gaurav Sharma,&nbsp;Madhu Vajpayee,&nbsp;Hiroshi Terunuma,&nbsp;Narinder K. Mehra,&nbsp;Gurvinder Kaur,&nbsp;Akinori Kimura","doi":"10.1111/iji.12617","DOIUrl":"10.1111/iji.12617","url":null,"abstract":"<p>One of the KIR allele, <i>KIR3DL1*007</i>, was associated with the progression to acquired immunodeficiency syndrome and not with the susceptibility to HIV-1 infection in the Japanese and Indian populations, implying that <i>KIR3DL1*007</i>-positive NK cells might eliminate HIV-infected cells less effectively than NK cells bearing the other <i>KIR3DL1</i> alleles or <i>KIR3DS1</i> alleles.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 2","pages":"48-52"},"PeriodicalIF":2.2,"publicationDate":"2023-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9465859","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":"IL-17A and IL-17F polymorphisms and asthma risk: A meta-analysis","authors":"Young Ho Lee","doi":"10.1111/iji.12616","DOIUrl":"10.1111/iji.12616","url":null,"abstract":"Thank you for your comment on the publication ‘Associations between interleukin 17A and 17F polymorphisms and asthma susceptibility: A meta-analysis’ (Lee & Song, 2023). Your suggestion to focus on the effects of unexpected and potentially confounding genetic variations in future research is particularly important in light of the complexity and ongoing nature of the field of genetic research. As you pointed out, asthma is a complex disease with multiple contributing factors, and it is crucial that future research takes a comprehensive approach in order to fully understand the underlying mechanisms of the disease (Toskala & Kennedy, 2015). By focusing on unexpected and potentially confounding genetic variations, we can expand our understanding of the genetic factors associated with asthma susceptibility and identify new therapeutic targets for the treatment of this condition (Friedrich et al., 2022). Your suggestion is particularly important given the rapid advancements in genetic research and the emergence of new technologies that allow for the identification and characterization of genetic variations. By utilizing these technologies, future research can more efficiently identify novel genetic variations that may be associated with asthma susceptibility, as well as better explain the functional implications of these variations. We will take your suggestion into consideration as we continue to advance our understanding of the genetic factors associated with asthma susceptibility. Young Ho Lee","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 2","pages":"64"},"PeriodicalIF":2.2,"publicationDate":"2023-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10109216","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":"Interleukin 17A and 17F polymorphisms and asthma susceptibility: Correspondence","authors":"Amnuay Kleebayoon,&nbsp;Viroj Wiwanitkit","doi":"10.1111/iji.12615","DOIUrl":"10.1111/iji.12615","url":null,"abstract":"Dear Editor, we would like to share ideas on the publication ‘Associations between interleukin 17A and 17F polymorphisms and asthma susceptibility: A meta-analysis’ (Lee & Song, 2023). Lee and Song looked for publications reporting IL17 polymorphisms in asthma patients and healthy controls using the PubMed/Medline and Embase databases (Lee & Song, 2023). Asthma susceptibility was studied using meta-analyses to examine the relationships between IL17Ars8193036 (−737C/T), rs2275913 (−197G/A), rs3819024 (A/G), rs3748067 (C/T), and rs4711998 (A/G) polymorphisms and (Lee & Song, 2023) IL17F rs763780 (7488A/G). According to Lee and Song, no correlation between this polymorphism and asthma could be established utilizing the allele contrast, dominant, or homozygous contrast models. In this meta-analysis, no proof of a relationship between any other IL17A and IL17F polymorphism and asthma susceptibility was discovered (Lee & Song, 2023). Finally, Lee and Song found that only the CC genotype of the IL17A rs8193036 polymorphism is linked to asthma susceptibility (Lee & Song, 2023). In this study, the impact of a polymorphism is examined. The hereditary factor discussed in this article might or might not have an effect. We both agree that the targeted observation might be related to the investigated underlying genetic component. However, a variety of genetic variants have been connected to the levels of serum folate, cobalamin, and homocysteine. Examples include NLRP3, MAVS, and GSDM gene polymorphisms (Imraish et al., 2022; Xulong et al., 2022). Future research should concentrate on the effects of unexpected, maybe confounding genetic variations. Amnuay Kleebayoon1 VirojWiwanitkit2","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 2","pages":"63"},"PeriodicalIF":2.2,"publicationDate":"2023-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10109218","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":"Genetic variations in low-to-medium-affinity Fcγ receptors and autoimmune neutropenia in early childhood in a Danish cohort","authors":"Kirstine Kløve-Mogensen,&nbsp;Rudi Steffensen,&nbsp;Tania Nicole Masmas,&nbsp;Andreas Glenthøj,&nbsp;Christina Friis Jensen,&nbsp;Thure Mors Haunstrup,&nbsp;Paul Ratcliffe,&nbsp;Petter Höglund,&nbsp;Henrik Hasle,&nbsp;Kaspar René Nielsen","doi":"10.1111/iji.12614","DOIUrl":"10.1111/iji.12614","url":null,"abstract":"<p>Autoimmune neutropenia (AIN) in early childhood is caused by autoantibodies directed against antigens on the neutrophil membrane and is a frequent cause of neutropenia in children. Association of AIN with Fcγ receptor (FCGR) 3B variants is well described. In this study, we investigate genetic variations in the FCGR locus and copy number variation of <i>FCGR3B</i>. A total of 130 antibody-positive AIN patients, 64 with specific anti-HNA-1a antibodies and 66 with broad-reacting anti-FcγRIIIb antibodies, were genotyped with a multiplex ligation probe assay and compared with healthy controls. Positive findings were confirmed with real-time q-PCR. We determined copy numbers of the FCGR2 and FCGR3 genes and the following SNPs: <i>FCGR2A</i> Q62W (rs201218628), <i>FCGR2A</i> H166R (rs1801274), <i>FCGR2B</i> I232T (rs1050501), <i>FCGR3A</i> V176F (rs396991), haplotypes for <i>FCGR2B/C</i> promoters (rs3219018/rs780467580), <i>FCGR2C</i> STOP/ORF and HNA-1 genotypes in <i>FCGR3B</i> (rs447536, rs448740, rs52820103, rs428888 and rs2290834). Generally, associations were antibody specific, with all associations being representative of the anti-HNA-1a-positive group, while the only association found in the anti-FcγRIIIb group was with the HNA-1 genotype. An increased risk of AIN was observed for patients with one copy of <i>FCGR3B</i>; the HNA genotypes HNA-1a, HNA-1aa or HNA-1aac; the <i>FCGR2A</i> 166H and <i>FCGR2B</i> 232I variations; and no copies of <i>FCGR2B</i> 2B.4. A decreased risk was observed for HNA genotype HNA-1bb; <i>FCGR2A</i> 166R; <i>FCGR2B</i> 232T; and one copy of <i>FCGR2B</i> promoter 2B.4. We conclude that in our Danish cohort, there was a strong association between variation in the FCGR locus and AIN. The findings of different genetic associations between autoantibody groups could indicate the presence of two different disease entities and disease heterogeneity.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 2","pages":"65-74"},"PeriodicalIF":2.2,"publicationDate":"2023-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1111/iji.12614","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9151110","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":"Vitamin D receptor gene polymorphisms influence on clinical profile and bone mineral density at different skeletal sites in postmenopausal osteoporotic women","authors":"Jaqueline de Azevêdo Silva,&nbsp;Camilla Albertina Dantas de Lima,&nbsp;Werbson Lima Guaraná,&nbsp;Alexandre Domingues Barbosa,&nbsp;Thiago Sotero Fragoso,&nbsp;Ângela Luzia Branco Pinto Duarte,&nbsp;Sergio Crovella,&nbsp;Paula Sandrin-Garcia","doi":"10.1111/iji.12613","DOIUrl":"10.1111/iji.12613","url":null,"abstract":"<p>Bone remodeling is marked by bone synthesis and absorption balance, and any altered dynamic in this process leads to osteoporosis (OP). The interaction of hormonal, environmental and genetic factors regulate bone metabolism. Since vitamin D displays a classic role in bone metabolism regulation, acting through vitamin D receptor (VDR), the genetic variants within <i>VDR</i> were the first ones associated with bone density and remodelling. Therefore, we investigated whether three single nucleotide polymorphisms (SNPs) within <i>VDR</i> were associated with OP differential susceptibility and clinical profile from postmenopausal versus healthy women from Northeast Brazil. Genetic association study enrolling 146 postmenopausal osteoporotic women as the patient group and 95 healthy age-matched women as the control group. We assessed three SNPs within <i>VDR</i> (rs11168268, rs1540339 and rs3890733), considering the clinical profile of all patients. Our results showed an association of rs11168268 G/G genotype with higher bone mineral density (BMD) mean for the total hip (A/A = 0.828 ± 0.09; A/G = 0.081 ± 0.13; G/G = 0.876 ± 0.12, <i>p</i> = .039), and the rs3890733 T/T genotype was associated with increased OP risk in patients below 60 years old (odds ratio [OR] = 5.12, 95% confidence interval [CI ]= 1.13–23.27, <i>p</i> = .012). The rs1540339 T/T genotype was associated with protection for individuals with low melanin deposition when compared to the high melanin deposition group (OR = 0.24, 95%CI = 0.06–0.94, <i>p</i> = .029). Additionally, 61% of patients presented deficient vitamin D serum levels. The SNP rs11168268 G/G was associated with a significantly increased mean total hip BMD in patients OP, highlighting this SNP and its relationship with BMD.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 2","pages":"75-81"},"PeriodicalIF":2.2,"publicationDate":"2023-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9104038","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 2022","authors":"Steven G. E. Marsh,&nbsp;for the WHO Nomenclature Committee for Factors of the HLA System","doi":"10.1111/iji.12612","DOIUrl":"10.1111/iji.12612","url":null,"abstract":"The following sequences have been submitted to the Nomenclature Committee since the July, August and September 2022 nomenclature update (Marsh, 2022) and, following agreed policy, have been assigned official allele designations (Marsh et al., 2010). Full details of all sequences will be published in a forthcoming report. Below are listed the newly assigned sequences (Table 1) and confirmations of previously reported sequences (Table 2). The accession number of each sequence is given and these can be used to retrieve the sequence files from the EMBL, GenBank or DDBJ data libraries. Although accession numbers have been assigned by the data libraries and most sequences are already available, there is still the possibility that an author may not yet have allowed the sequence to be released; in such a case, you will have to contact the submitting author directly. Additional information pertaining to new sequences is often included in the publications describing these alleles; a listing of recent publications that describe new HLA sequences is given in Table 3. In addition, the sequence for the allele A*23:113N was named in error and has been renamed A*24:586N. The name A*23:113N has therefore been deleted. All new and confirmatory sequences should now be submitted directly to theWHONomenclature Committee for Factors of the HLA System via the IPD-IMGT/HLA Database using the sequence submission tool provided (Barker et al., 2023). The IPD-IMGT/HLA Database may be accessed via the World WideWeb at www.ebi.ac.uk/ipd/imgt/ hla.","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 2","pages":"82-106"},"PeriodicalIF":2.2,"publicationDate":"2023-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9732928","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}