International Journal of Immunogenetics最新文献

{"title":"Genetic epidemiology of human neutrophil antigen variants suggests significant global variability","authors":"Mercy Rophina,&nbsp;Vinod Scaria","doi":"10.1111/iji.12597","DOIUrl":"10.1111/iji.12597","url":null,"abstract":"<p>Human neutrophil antigens possess significant clinical implications especially in the fields of transfusion and transplantation medicine. Efforts to estimate the prevalence of genetic variations underpinning the antigenic expression are emerging. However, there lacks a precise capture of the global frequency profiles. Our article emphasizes the potential utility of maintaining an organized online repository of evidence on neutrophil antigen-associated genetic variants from published literature and reports. This, in our opinion, is an emerging area and would significantly benefit from the awareness and understanding of population-level diversities.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 5","pages":"345-352"},"PeriodicalIF":2.2,"publicationDate":"2022-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40421076","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":"Angiotensin-converting enzyme 2 rs2285666 polymorphism and clinical parameters as the determinants of COVID-19 severity in Iranian population","authors":"Fereshteh Khalilzadeh,&nbsp;Fatemeh Sakhaee,&nbsp;Fattah Sotoodehnejadnematalahi,&nbsp;Mohammad Saber Zamani,&nbsp;Iraj Ahmadi,&nbsp;Enayat Anvari,&nbsp;Abolfazl Fateh","doi":"10.1111/iji.12598","DOIUrl":"10.1111/iji.12598","url":null,"abstract":"<p>Host genetic factors may be correlated with the severity of coronavirus disease 2019 (COVID-19). Angiotensin-converting enzyme 2 (ACE2) plays a vital role in viral cell entrance. The current study aimed to evaluate the association of <i>ACE2</i> rs2285666 polymorphism and clinical parameters with COVID-19 mortality. The <i>ACE2</i> rs2285666 polymorphism was genotyped using the polymerase chain reaction-restriction fragment length polymorphism in 556 recovered and 522 dead patients. In this study, the frequency of <i>ACE2</i> rs2285666 CC was significantly higher than TT genotype in dead patients. The multivariate logistic regression analysis results showed that the higher levels of alanine aminotransferase, alkaline phosphatase, creatinine, erythrocyte sedimentation rate, and C-reactive protein and the low levels of uric acid, cholesterol, low density lipoprotein, 25-hydroxyvitamin D, real-time PCR Ct values, and <i>ACE2</i> rs2285666 CC genotype were associated with increased mortality rates after COVID-19. In conclusion, our findings demonstrated a possible link between COVID-19 mortality, clinical parameters, and <i>ACE2</i> rs2285666 CC. Further research is required to confirm these results.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 5","pages":"325-332"},"PeriodicalIF":2.2,"publicationDate":"2022-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9539076/pdf/IJI-49-325.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40421078","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":"An early evaluation of the HISTO SPOT® AB ID Class I & II test in cardiothoracic transplant patients","authors":"James Cashin,&nbsp;Patrick Flynn,&nbsp;Judith Worthington,&nbsp;Marcus Lowe,&nbsp;Andrew Canterbury,&nbsp;Kristin Launhardt,&nbsp;Ian Crosby,&nbsp;Stephen Sheldon,&nbsp;Rajamiyer Venkateswaran,&nbsp;Kay Poulton","doi":"10.1111/iji.12595","DOIUrl":"10.1111/iji.12595","url":null,"abstract":"<p>The HISTO SPOT^®AB ID assay (BAG Diagnostics GmbH) is a novel single antigen HLA Class I &amp; II antibody definition test used with the MR.SPOT^® processor. We compared this assay with Luminex^®-based assays to assess its potential application in defining unacceptable antigens for transplantation in patients awaiting transplants with cardiothoracic organs. A cohort of 40 sensitized cardiothoracic patients were identified, and one sample was selected from each patient. The required screening was based on the patients’ antibody profiles (Class I, <i>n</i> = 17, Class II, <i>n</i> = 11, Class I &amp; II, <i>n</i> = 12). Samples were screened with LABScreen™ Single Antigen (SAg), LIFECODES^® LSA™, HISTO SPOT^® AB ID, and an acid modified LABScreen™ SAg test for detecting antibodies against denatured HLA. Results indicated that HISTO SPOT^® AB ID had reduced sensitivity (68% for Class I; 69% for Class II). When compared to LABScreen™ and LIFECODES^®, HISTO SPOT^® AB ID failed to detect Luminex^®-defined antibodies with median fluorescence intensity (MFI) ranging from 1114 to 24,489. The HISTO SPOT^® AB ID panel used in the study had reduced antigen representation compared with Luminex^®-based assays which further compromised its capacity for antibody detection and definition. Further work is needed to evaluate the clinical relevance of these differences between the performance of HISTO SPOT^® and Luminex^®-based methods.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 5","pages":"317-324"},"PeriodicalIF":2.2,"publicationDate":"2022-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40626303","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":"High-resolution HLA class II sequencing of Swedish multiple sclerosis patients","authors":"Omar Akel,&nbsp;Lue Ping Zhao,&nbsp;Daniel E Geraghty,&nbsp;Alexander Lind","doi":"10.1111/iji.12594","DOIUrl":"10.1111/iji.12594","url":null,"abstract":"<p>Multiple sclerosis (MS) is a chronic neurological disease believed to be caused by autoimmune pathogenesis. The aetiology is likely explained by a complex interplay between inherited and environmental factors. Genetic investigations into MS have been conducted for over 50 years, yielding &gt;100 associations to date. Globally, the strongest linkage is with the human leukocyte antigen (HLA) <i>HLA-DRB5*01:01:01-DRB1*15:01:01-DQA1*01:02:01-DQB1*06:02:01</i> haplotype.</p><p>Here, high-resolution sequencing of HLA was used to determine the alleles of <i>DRB3</i>, <i>DRB4</i>, <i>DRB5</i>, <i>DRB1</i>, <i>DQA1</i>, <i>DQB1</i>, <i>DPA1</i> and <i>DPB1</i> as well as their extended haplotypes and genotypes in 100 Swedish MS patients. Results were compared to 636 population controls.</p><p>The heterogeneity in HLA associations with MS was demonstrated; among 100 patients, 69 extended <i>HLA-DR-DQ</i> genotypes were found. Three extended <i>HLA-DR-DQ</i> genotypes were found to be correlated to MS; <i>HLA-DRB5*01:01:01-DRB1*15:01:01-DQA1*01:02:01-DQB1*06:02:01</i> haplotype together with</p><p>(A) <i>HLA-DRB4*01:01:01//DRB4*01:01:01:01-DRB1*07:01:01-DQA1*02:01//02:01:01-DQB1*02:02:01</i>,</p><p>(B) <i>HLA-DRBX*null-DRB1*08:01:01-DQA1*04:01:01-DQB1*04:02:01</i>, and</p><p>(C) <i>HLA-DRB3*01:01:02-DRB1*03:01:01-DQA1*05:01:01-DQB1*02:01:01</i>.</p><p>At the allelic level, <i>HLA-DRB3*01:01:02</i> was considered protective against MS. However, when combined with <i>HLA-DRB3*01:01:02-DRB1*03:01:01-DQA1*05:01:01-DQB1*02:01:01</i>, this extended haplotype was considered a predisposing risk factor. This highlights the limitations as included with investigations of single alleles relative to those of extended haplotypes/genotypes.</p><p>In conclusion, with 69 genotypes presented among 100 patients, high-resolution sequencing was conducted to underscore the wide polymorphisms present among MS patients. Additional studies in larger cohorts will be of importance to define MS among the patient group not associated with <i>HLA-DRB5*01:01:01-DRB1*15:01:01-DQA1*01:02:01-DQB1*06:02:01</i>.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 5","pages":"333-339"},"PeriodicalIF":2.2,"publicationDate":"2022-08-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9545082/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40692544","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":"Frequency and distribution of HLA-DQB1 alleles from 2076 cord blood samples of the Vietnamese cohort","authors":"Tran Ngoc Que,&nbsp;Nguyen Ba Khanh,&nbsp;Pham Dinh Tung,&nbsp;Pham Thi Luong Hang,&nbsp;Nguyen Thi Van Anh,&nbsp;Nguyen Dinh Thang","doi":"10.1111/iji.12592","DOIUrl":"10.1111/iji.12592","url":null,"abstract":"<p>Human leucocyte antigen (HLA) alleles are very diverse and characterized by ethnicity. To date, information about the frequencies and distributions of HLA alleles among the Vietnamese population is still limited. In this study, HLA-DQB1 alleles of 2076 cord blood units from individuals belonging to Vietnam's Kinh ethnic people were genotyped using Luminex-based polymerase chain reaction sequence-specific oligonucleotide. The results of the study demonstrated that there were 23 alleles on the locus HLA-DQB1. Among those, there were six alleles with high frequencies of over 5%, including DQB1^*03:01 (35.9%), DQB1^*05:01 (12.8%), DQB1^*03:03 (12.2%); DQB1^*06:01 (7.20%), DQB1^*05:02 (6.62%) and DQB1^*02:01 (5.30%) and five rare alleles with low frequencies of below 0.1%. More importantly, this study for the first time reported the presence of two new rare alleles including DQB1^*01:01 and DQB1^*01:02. Conclusively, this study provided significant information about HLA-DQB1 alleles for further investigations and clinical applications.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 5","pages":"340-344"},"PeriodicalIF":2.2,"publicationDate":"2022-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40664629","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 PTPN22 C1858T polymorphism and juvenile idiopathic arthritis: A meta-analysis update with trial sequential analysis","authors":"Young Ho Lee,&nbsp;Gwan Gyu Song","doi":"10.1111/iji.12590","DOIUrl":"10.1111/iji.12590","url":null,"abstract":"<p>Our aim was to determine whether protein tyrosine phosphatase nonreceptor 22 (<i>PTPN22</i>) C1858T polymorphism (rs2476601) is associated with susceptibility to juvenile idiopathic arthritis (JIA). MEDLINE and EMBASE databases were searched to identify articles in which <i>PTPN22</i> C1858T polymorphism was reported to be identified in JIA patients and controls. A meta-analysis was conducted to evaluate the association between <i>PTPN22</i> C1858T polymorphism and RA using allelic contrast. Trial sequential analysis (TSA) was performed. Sixteen separate comparisons involving 5696 JIA patients and 9483 controls (a total of 15,179 subjects) were considered in this meta-analysis. A meta-analysis was performed with all JIA patients as well as JIA patients in each ethnic group. Meta-analysis revealed an association between the T allele of <i>PTPN22</i> C1858T polymorphism and JIA in all subjects (OR, 1.322; 95% CI, 1.233–1.418; <i>p</i> &lt; .001). Analysis after stratification by ethnicity indicated that the T allele was significantly associated with JIA in the European population (OR, 1.312; 95% CI, 1.2211–1.410; <i>p</i> &lt; .001). However, analysis performed in the non-European population showed no significant association between the T allele and JIA. TSA indicated that the observed association between the <i>PTPN22</i> polymorphism and JIA in all subjects and the European population is consistent with the existing evidence. This meta-analysis confirms that <i>PTPN22</i> C1858T polymorphism is associated with susceptibility to JIA in Europeans, and that no additional studies are needed to verify these results. However, current evidence in the non-European population is insufficient, and further studies are warranted.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 4","pages":"271-278"},"PeriodicalIF":2.2,"publicationDate":"2022-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40545162","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 are associated with the increased susceptibility to COVID-19 among iranian population: A case-control study","authors":"Ali Jafarpoor,&nbsp;Seyed Mohammad Jazayeri,&nbsp;Farah Bokharaei-Salim,&nbsp;Angila Ataei-Pirkooh,&nbsp;Azam Ghaziasadi,&nbsp;Saber Soltani,&nbsp;Ahmadreza Sadeghi,&nbsp;Shima Sadeghipoor Marvi,&nbsp;Vahdat Poortahmasebi,&nbsp;Seyed Mahmood Seyed Khorrami,&nbsp;Mandana Hasanzad,&nbsp;Negar Parsania,&nbsp;Sina Nagozir,&nbsp;Narges Mokhtari,&nbsp;Ali Parsania,&nbsp;Asma Bahrami,&nbsp;Mohammad Hossein Nadjarha,&nbsp;Reza Pakzad,&nbsp;Masoud Parsania","doi":"10.1111/iji.12585","DOIUrl":"10.1111/iji.12585","url":null,"abstract":"<p>Coronavirus disease 2019 (COVID-19) is an infectious disease caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), but the pathogenesis is unclear. Host genetic background is one of the main factors influencing the patients' susceptibility to several viral infectious diseases. This study aimed to investigate the association between host genetic polymorphisms of two genes, including vitamin D receptor (VDR) and vitamin D binding protein (DBP), and susceptibility to COVID-19 in a sample of the Iranian population. This case-control study enrolled 188 hospitalized COVID-19 patients as the case group and 218 suspected COVID-19 patients with mild signs as the control group. The VDR (rs7975232, rs731236 and rs2228570) and DBP (rs7041) gene single nucleotide polymorphisms (SNPs) were genotyped by Polymerase Chain Reaction Restriction – Fragment Length Polymorphism (PCR-RFLP) method. A significant association between rs2228570 SNP in the VDR gene and the susceptibility of COVID-19 was found between case and control groups. The CT genotype (Heterozygous) of rs2228570 C &gt; T polymorphism showed significant association with a 3.088 fold increased odds of COVID-19 (<i>p</i> &lt; .0001; adjusted OR: 3.088; 95% CI: 1.902–5.012). In addition, a significant association between CC genotype of rs2228570 CT polymorphism and increased odds of COVID-19 in male and female groups (<i>p</i> = .001; adjusted OR: 3.125; 95% CI: 1.630–5.991 and <i>p</i> = .002; adjusted OR: 3.071; 95% CI: 1.485–6.354 respectively) were determined. Our results revealed no significant differences in the frequency of genotype and allele of VDR (rs7975232 and rs731236) and DBP (rs7041) between SARS-CoV-2-infected patients and controls (<i>p</i> &gt; .05). Our results showed that polymorphism of VDR (rs2228570) probably could influence individual susceptibility to COVID-19. The polymorphisms of VDR (rs7975232 and rs731236) and DBP (rs7041) were not associated with SARS-CoV-2 infection susceptibility.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 4","pages":"243-253"},"PeriodicalIF":2.2,"publicationDate":"2022-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9350092/pdf/IJI-49-243.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40612857","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 April, May and June 2022","authors":"Steven G. E. Marsh","doi":"10.1111/iji.12591","DOIUrl":"10.1111/iji.12591","url":null,"abstract":"The following sequences have been submitted to the Nomenclature Committee since the January, February and March 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 C*16:15:01 has been extended to become a new C*16 protein variant. The allele name C*16:15:01has been abandoned and the sequence renamedC*16:201. Furthermore, the allele DPA1*02:64 was found to have an alternative start codon, and has had theQ suffix added, to becomeDPA1*02:64Q. All new and confirmatory sequences should now be submitted directly to the WHO Nomenclature Committee for Factors of the HLA System via the IPD-IMGT/HLADatabase using the sequence submission tool provided (Robinson et al., 2020). The IPD-IMGT/HLA Databasemay be accessed via theWorldWideWeb at: www.ebi.ac.uk/ ipd/imgt/hla.","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 4","pages":"279-315"},"PeriodicalIF":2.2,"publicationDate":"2022-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40612858","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":"A susceptibility putative haplotype within NLRP3 inflammasome gene influences ischaemic stroke risk in the population of Punjab, India","authors":"Nitin Kumar,&nbsp;Manminder Kaur,&nbsp;Gurjinderpal Singh,&nbsp;Srishti Valecha,&nbsp;Rubanpal Khinda,&nbsp;Mario Di Napoli,&nbsp;Monica Singh,&nbsp;Puneetpal Singh,&nbsp;Sarabjit Mastana","doi":"10.1111/iji.12589","DOIUrl":"10.1111/iji.12589","url":null,"abstract":"<p>Despite strong genetic implications of NLRP3 inflammasome, its examination as genetic determinant of ischaemic stroke (IS) remains to be done in Punjab, which has been investigated in this study. In this case control study, 400 subjects (200 IS patients, 200 stroke free controls) were included. Contributions of 5 single nucleotide polymorphisms (SNPs) including a functional SNP within NLRP3 gene (rs10754558, rs4612666, rs2027432, rs3738488 and rs1539019) for the risk of IS were investigated through genetic models after correcting the effect of significant variables. Plasma levels of three pro-inflammatory markers, that is, C-reactive protein (CRP), interleukin-1beta (IL-1β) and interleukin-18 (IL-18) were measured by enzyme-linked immunosorbent assays (ELISA). Minor alleles of 3 out of 5 SNPs (rs10754558, rs4612666 and rs1539019) exhibited association with IS risk in additive, recessive and multiplicative models. Multivariable regression analysis confirmed that higher levels of systolic blood pressure (<i>β</i> ± SE: 1.42 ± 0.57, <i>p</i> = .013), CRP (<i>β</i> ± SE: 1.22 ± 0.41, <i>p</i> = .003), IL-1β (<i>β</i> ± SE: 1.78 ± 0.88, <i>p</i> = .043) and IL-18 (<i>β</i> ± SE: 1.13 ± 0.49, <i>p</i> = .021) were independent risk predictors for IS. Haplotype analysis revealed a susceptibility putative haplotype GTGTA, which approximately doubled the IS risk (OR: 1.98, 95% CI: 1.12–3.78, <i>p</i> = .04) in dominant mode after adjusting the effect with confounding variables. This susceptibility putative haplotype GTGTA was significantly associated with increased concentrations of CRP (<i>β</i> = 1.21, <i>p</i> = .014) and IL-1β (<i>β</i> = 1.53, <i>p</i> = .034) in dose-dependent manner (less in carriers of 1 copy than those who had 2 copies of GTGTA).</p><p>The present study has revealed a susceptibility putative haplotype GTGTA within NLRP3 gene, carriers of which have double the risk of IS by having increased plasma levels of CRP and IL-1β in a dose-dependent manner.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 4","pages":"260-270"},"PeriodicalIF":2.2,"publicationDate":"2022-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ff/a5/IJI-49-260.PMC9546049.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40613817","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":"Association between interleukin-1 receptor antagonist (IL-1ra) VNTR, gene polymorphism and breast cancer susceptibility in Iranian population: Experimental and web-based analysis","authors":"Reza Ibrahimi,&nbsp;Mostafa Ibrahimi,&nbsp;Behzad jamalzei,&nbsp;Mohammad Esmaeil Akbari,&nbsp;Mohsen Navari,&nbsp;Maryam Moossavi,&nbsp;Milad Khorasani","doi":"10.1111/iji.12584","DOIUrl":"10.1111/iji.12584","url":null,"abstract":"<p>Breast cancer is one of the leading causes of cancer mortality. Growing evidence indicates that interleukins and its polymorphisms are involved in the pathogenesis of breast cancer. Variable number of tandem repeat (VNTR) polymorphism can affect transcription rate, mRNA stability and also the resulting protein expression and activity. Hence, present study aimed to assess the possible association between interleukin-1 receptor antagonist (IL-1Ra) VNTR polymorphism, and breast cancer susceptibility in Iranian population. A total of 300 Iranian individuals, 150 breast cancer patients and 150 age-matched healthy women, were included in this study. DNA extracted by salting out method and genotyping was done using the polymerase chain reaction. The frequency of the allele 2(5% vs. 22%) and the 2/2 genotype (22% vs. 46%) of IL-1Ra VNTR polymorphism was significantly higher in healthy control compared to breast cancer patient: therefore, A2 allele may play a protective role against breast cancer and its progression (<i>p</i> = .0001 and OR = 0.105, 95% CI: [0.044–0.248]). The allele 2 and 2/2 genotype of the IL-Ra VNTR polymorphism can be a protective factor against breast cancer susceptibility.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"49 4","pages":"254-259"},"PeriodicalIF":2.2,"publicationDate":"2022-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40524906","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}