International Journal of Immunogenetics最新文献

{"title":"Interleukin 17A and 17F polymorphisms and asthma susceptibility: Correspondence","authors":"Amnuay Kleebayoon, 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}

{"title":"Associations between interleukin 17A and 17F polymorphisms and asthma susceptibility: A meta-analysis","authors":"Young Ho Lee,&nbsp;Gwan Gyu Song","doi":"10.1111/iji.12611","DOIUrl":"10.1111/iji.12611","url":null,"abstract":"<p>Owing to their role in inflammatory reactions and immunological responses as well as their chromosomal location, <i>interleukin (IL) 17A</i> and <i>17F</i> are regarded as candidate causal genes associated with asthma. The aim of this study was to determine whether <i>IL17</i> polymorphisms are associated with susceptibility to asthma. We used the PubMed/Medline and Embase databases to search for studies reporting <i>IL17</i> polymorphisms in patients with asthma and healthy controls. Meta-analyses were conducted to determine the associations between <i>IL17A</i> rs8193036 (−737C/T), rs2275913 (−197G/A), rs3819024 (A/G), rs3748067 (C/T), and rs4711998 (A/G) and <i>IL17F</i> rs763780 (7488A/G), rs2397084 (T/C), rs1889570 (C/T), rs11465553 (G/A), and rs1266828 (T/C) polymorphisms and asthma susceptibility. A total of 20 studies were included in this meta-analysis. Our results revealed the <i>IL17A</i> rs8193036 CC genotype was associated with asthma susceptibility (odds ratio [OR] = 1.490, 95% confidence interval [CI] = 1.027–2.161, <i>p</i> = .036). However, stratification by ethnicity indicated no association between this polymorphism and asthma in European and Asian subjects. Furthermore, no association was found between this polymorphism and asthma using the allele contrast, dominant or homozygous contrast models. No evidence of an association was found between any of the other <i>IL17A</i> and <i>IL17F</i> polymorphisms and asthma susceptibility in this meta-analysis. This meta-analysis showed that, among the studied polymorphisms, only the CC genotype of <i>IL17A</i> rs8193036 is associated with asthma susceptibility.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 2","pages":"53-62"},"PeriodicalIF":2.2,"publicationDate":"2023-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9723313","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":"TCR gene segment usage and HLA alleles that are associated with cancer survival rates also represent racial disparities","authors":"George Angelakakis,&nbsp;Karisa S. Serraneau,&nbsp;Vayda R. Barker,&nbsp;Blake M. Callahan,&nbsp;Wei Lue Tong,&nbsp;Saif Zaman,&nbsp;Taha I. Huda,&nbsp;George Blanck","doi":"10.1111/iji.12610","DOIUrl":"10.1111/iji.12610","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Understanding racial disparities in cancer outcomes continues to be a challenge, with likely many factors at play, including socioeconomic factors and genetic polymorphisms impacting basic cellular and molecular functions. Additionally, it is possible that specific combinations of environment and genetics have specific impacts. T-cell receptor (TCR) gene segment usage, HLA allele combinations have been associated with autoimmune and infectious disease courses, and more recently, TCR gene segment usage, HLA allele combinations have been associated with distinct survival outcomes in cancer as well. We examined several such, previously reported cancer-related TCR gene segment usage, HLA allele combinations for evidence of racial disparities, with regard to the prevalence of the combination in different racial groups. Results indicated that TCR gene segment usage, potentially reflecting environmental factors related to previous pathogen exposure, in combination with certain HLA alleles or independently, may represent a novel explanation for racial disparities in cancer outcomes. Overall, at this point, a genetic connection to racial disparities in cancer outcomes is detectable but remains modest, suggesting that other factors, such as socioeconomic factors, remain as important considerations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 2","pages":"41-47"},"PeriodicalIF":2.2,"publicationDate":"2022-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9097148","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 class II HLA alleles with susceptibility to develop immune-mediated diseases in Paraguayan patients","authors":"Isabel Acosta-Colman,&nbsp;Sonia Cabrera-Villalba,&nbsp;Ana Ayala-Lugo,&nbsp;Valerie Jolly,&nbsp;Marcos Vazquez,&nbsp;Zoilo Morel,&nbsp;Patricia Langjahr,&nbsp;Margarita Duarte,&nbsp;Ruth Zarate,&nbsp;Maria Eugenia Acosta,&nbsp;Gabriela Avila-Pedretti,&nbsp;Antonio Julià,&nbsp;María Teresa Martinez,&nbsp;Sara Marsal","doi":"10.1111/iji.12609","DOIUrl":"10.1111/iji.12609","url":null,"abstract":"<p>Genetic and nongenetic factors are involved in the pathogenesis of immune-mediated inflammatory diseases (IMIDs). The best-known genetic factor for susceptibility to IMIDs is the human leukocyte antigen (HLA). The aim of the present study was to evaluate the association of HLA class II genes with the risk of systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and systemic sclerosis (SSc) in the Paraguayan population. We included 254 patients with IMIDs (101 SLE, 103 RA, and 50 SSc) and 50 healthy controls. The haplotypes of five genes corresponding to HLA class II genes and their relationship to the IMIDs studied were determined. Note that 84.6% were women, with a mean age of 43.4 ± 14 years. Among the associated HLA alleles, we found the previously identified risk factors in other populations like HLA-DRB1*03:01 and HLA-DRB1*14:02 for RA, as well as new ones not previously identified, such as DPA1*02:01 for SLE and, DB1*02:01 for RA and SSc. In the genetic association analysis, already known associations have been replicated, and unpublished associations have been identified in Paraguayan patients with IMIDs. This is the first genetic association study in Paraguayan patients with IMIDs.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 1","pages":"12-18"},"PeriodicalIF":2.2,"publicationDate":"2022-12-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10500031","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":"Rheumatoid arthritis-associated antibodies in healthy first-degree relatives of RA patients","authors":"David Vega-Morales,&nbsp;Lorena Pérez-Barbosa,&nbsp;Luis Francisco Vega-Sevilla,&nbsp;Jorge Antonio Esquivel-Valerio,&nbsp;Luis Eduardo Ramírez-Monterrubio,&nbsp;Karina I Gonzalez-Torres,&nbsp;Ana Sofía Leal-Bramasco,&nbsp;Cesar V Elizondo-Solis,&nbsp;Andres Mendiola-Jimenez,&nbsp;Mario Alberto Garza-Elizondo,&nbsp;Dionicio Ángel Galarza-Delgado","doi":"10.1111/iji.12608","DOIUrl":"10.1111/iji.12608","url":null,"abstract":"<p>Rheumatoid arthritis (RA) affects approximately 1.5% of the population worldwide and 0.5–3.3% of the Mexican population. The presence of rheumatoid factor (RF), anti-citrullinated protein antibodies (ACPA) and anti-carbamylated protein (anti-CarP) antibodies has been described in populations at risk of RA development, such as first-degree relatives (FDR). Anti-CarP antibodies are present in RA patients (44%), FDR of RA patients (18%) and healthy controls (4.7%). Anti-CarP antibodies have not been described in FDR of the Mexican population. The objective of this study was to determine the prevalence of Rheumatoid Factors (RF) isotypes, ACPA and anti-CarP antibodies isotypes in FDR of RA patients. An observational, cross-sectional study, in an FDR of RA cohort, was performed. We measured IgA, IgG and IgM isotypes of RF, ACPA and anti-CarP antibodies. A total of 144 FDRs from 99 RA patients were enrolled. The prevalence of anti-CarP antibodies was 2.8% for IgA, 4.2% for IgG, whereas IgM was not detected. The serologic association was for RF/ACPA 4.48%, RF/anti-CarP 2.7%, FR 64.5%, ACPA 1.3%, ACPA/anti-CarP 0.69%, anti-CarP 3.4%, and no RF/ACPA/anti-CarP was observed. We found a low prevalence of anti-CarP antibodies in our cohort of FDR of RA patients, but the prevalence of ACPA and RF were higher than other cohorts previously reported.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 1","pages":"19-23"},"PeriodicalIF":2.2,"publicationDate":"2022-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10501223","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":"VDR gene polymorphisms and susceptibility to COVID-19: Correspondence","authors":"Pathum Sookaromdee,&nbsp;Viroj Wiwanitkit","doi":"10.1111/iji.12600","DOIUrl":"10.1111/iji.12600","url":null,"abstract":"COVID-19 (Jafar-pooretal.,2022).Jafarpooretal.discoveredthataVDRpolymorphism (rs2228570) COVID-19.","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 6","pages":"384"},"PeriodicalIF":2.2,"publicationDate":"2022-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10625720","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":"Identification of the novel HLA-DPA1*01:03:43 allele resulting from an intralocus recombination involving the DPA1*04:01:01:03 and DPA1*01:03:01:27 alleles sequenced by Next Generation Sequencing (NGS)","authors":"Turnbull Hannah,&nbsp;Brewin Gemma,&nbsp;Peacock Sarah","doi":"10.1111/iji.12607","DOIUrl":"10.1111/iji.12607","url":null,"abstract":"<p>HLA-DPA1 intralocus recombination between DPA1*04:01:01:03 and DPA1*01:03:01:27, or closely related other alleles, results in a novel allele HLA-DPA1*01:03:43.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 1","pages":"1-4"},"PeriodicalIF":2.2,"publicationDate":"2022-11-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10556880","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}