International Journal of Immunogenetics最新文献

{"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}

{"title":"Association between the interleukin-1B polymorphism at rs16944 T>C and diabetic retinopathy","authors":"Nengbo Lin,&nbsp;Hua Lu,&nbsp;Xiaoling Cheng,&nbsp;Ya Zhao,&nbsp;Qin Wan,&nbsp;Yi Luo,&nbsp;Ying Miao,&nbsp;Xue Bai,&nbsp;Dan Liu,&nbsp;Chao Wang","doi":"10.1111/iji.12604","DOIUrl":"10.1111/iji.12604","url":null,"abstract":"<p>Diabetic retinopathy (DR) is a common microvascular complication of diabetes and the leading cause of blindness at working age. DR is considered to be a chronic low-grade inflammatory subclinical disease, and its pathogenesis is related to genetic and environmental factors. Interleukin (IL)-1 is an important inflammatory cytokine. An association between DR and the rs16944 (<i>IL-1B-511</i>) T&gt;C gene polymorphism has not been reported. The aim of this study was to investigate the association between the rs16944 T&gt;C gene polymorphism and DR in the Han population in southwest China. Participants in this study were 272 patients with DR, 274 patients with type 2 diabetes mellitus (T2DM), and 335 healthy controls (NC). The polymerase chain reaction-restriction fragment length polymorphism method was used to detect the rs16944 T&gt;C genotype of participants. The distribution frequencies of the rs16944 T&gt;C genotype and allele were significantly different among the three groups (<i>p</i> &lt; .05). The distribution frequency of TT, CT, CC genotype (χ² = 9.893, <i>p</i> = .007; χ² = 6.567, <i>p</i> = .037) and each allele (χ² = 5.585, <i>p</i> = .018; χ² = 9.187, <i>p</i> = .002) in the DR group was significantly different from the NC and T2DM groups, respectively. Logistic regression analysis showed that the TT + CT genotype was a risk factor for DR, with an odds ratio of 1.731 (95% confidence interval 1.140–2.627, <i>p</i> = .01). The rs16944 T&gt;C gene polymorphism may be associated with DR, and the TT+CT genotype may increase the risk of DR.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 1","pages":"34-40"},"PeriodicalIF":2.2,"publicationDate":"2022-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10556879","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 between gene polymorphisms of IL-12, IL-12 receptor and IL-27 and organ involvement in Iranian endometriosis patients","authors":"Maryam Zare,&nbsp;Fatemeh Hesampour,&nbsp;Tahereh Poordast,&nbsp;Maryam Valibeigi,&nbsp;Maliheh Enayatmehri,&nbsp;Sahar Ahmadi,&nbsp;Fatemeh Nasri,&nbsp;Behrouz Gharesi-Fard","doi":"10.1111/iji.12606","DOIUrl":"10.1111/iji.12606","url":null,"abstract":"<p>Endometriosis is an inflammatory disease characterized by the presence of ectopic endometrial tissue, immune cell dysfunction and abnormal cytokine secretion. In addition to immunological factors, genetic variations that influence endometriosis severity and cytokine expression levels play important roles in the pathogenesis of this disease. Interleukin-12 (IL-12), specifically its p40 subunit encoded by IL-12B gene and the interleukin-12 receptor β1 (IL-12Rβ2) chain of its receptor, as well as interleukin-27 (IL-27) are important in the establishment of endometriosis. So, in this study, we measured IL-12 and IL-27 serum levels and investigated the possible links between IL-12B rs3212227, IL-12Rβ2 rs3790565 and IL-27 rs153109 polymorphisms and the risk of developing endometriosis in a group of Iranian women. In this case-control study, 162 endometriosis patients and 151 healthy women were included and tested for the aforementioned polymorphisms using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. The enzyme-linked immunosorbent assay (ELISA) method was also used to measure IL-12 and IL-27 serum levels. Although there was no statistically significant association between the genotypes and alleles of the studied polymorphisms and the development of endometriosis in general, the AA genotype of IL-12B rs3212227 showed a significant association with uterine endometriosis when compared to AC+CC genotypes (<i>p</i> = .04, CI = 0.270–0.988, OR = 0.517). Indeed, the AA genotype of the IL-12B rs3212227 single nucleotide polymorphism (SNP) may be linked with a lower risk of developing uterine endometriosis. There was no significant difference in IL-27 levels between the two studied groups (<i>p</i> = .49), and IL-12 levels were undetectable in both groups. In conclusion, the AA genotype of IL-12B rs3212227 might be associated with a decreased risk of uterine involvement in endometriosis patients.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"50 1","pages":"24-33"},"PeriodicalIF":2.2,"publicationDate":"2022-11-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10491593","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}