International Journal of Immunogenetics最新文献

{"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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":null,"pages":null},"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}

{"title":"Differential distribution of vitamin D receptor (VDR) gene variants and its expression in systemic lupus erythematosus","authors":"Jaqueline De Azevêdo Silva,&nbsp;Suelen Cristina de Lima,&nbsp;Thiago Sotero Fragoso,&nbsp;Catarina Addobbati Jordão Cavalcanti,&nbsp;Alexandre Domingues Barbosa,&nbsp;Maria Eduarda de Albuquerque Borborema,&nbsp;Thays Maria Costa de Lucena,&nbsp;Angela Luzia Branco Pinto Duarte,&nbsp;Sergio Crovella,&nbsp;Paula Sandrin-Garcia","doi":"10.1111/iji.12576","DOIUrl":"10.1111/iji.12576","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disorder that displays an important genetic background. Vitamin D₃ (VD₃) through its receptor (VDR) plays an important immunomodulatory role in autoimmune misbalance, being capable of modulating immune responses. Genetic alterations in <i>VDR</i> gene may contribute to an altered risk in SLE development and clinical manifestations. We investigated <i>VDR</i> SNPs (single nucleotide polymorphisms) frequencies in 128 SLE patients and 138 healthy controls (HC) and mRNA differential expression in 29 patients and 17 HC regarding SLE susceptibility as well as clinical features. We observed that rs11168268 G allele (OR = 1.55, <i>p </i>= .01) and G/G genotype (OR = 2.69, <i>p </i>= .008) were associated with increased SLE susceptibility. The rs2248098 G allele and A/G and G/G genotypes were associated to lower SLE susceptibility (OR = 0.66, <i>p </i>= .01; OR = 0.46, <i>p </i>= .01; OR = 0.44, <i>p </i>= .02, respectively). Regarding clinical features, we observed lower risk for: rs11168268 A/G genotype and nephritis (OR = 0.31, <i>p </i>= .01); rs4760648 T/T genotype and photosensitivity (OR = 0.24, <i>p </i>= .02); rs1540339 T/T genotype and antibody anti-dsDNA (OR = 0.19, <i>p </i>= .015); rs3890733 T/T genotype and serositis (OR = 0.10, <i>p </i>= .01). We identified a significant downregulation in <i>VDR</i> expression levels when compared patients and controls overall (<i>p </i>= 1.04e^–7), in <i>Cdx-2</i> A/G and G/G (<i>p </i>= .008 and <i>p </i>= .014, respectively) and in patients with nephritis (<i>p </i>= .016)</p>\u0000 \u0000 <p>Our results suggested that <i>VDR</i> SNPs influence upon SLE susceptibility and in particular clinical features, acting on mRNA expression in SLE patients overall and the ones with nephritis.</p>\u0000 </section>\u0000 </div>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2022-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44637560","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":"Prevalence of Rh and K phenotypes among blood donors from different ethnicities in Samtah (Southwestern Region) Saudi Arabia","authors":"Hassan A. Hamali,&nbsp;Maymoon M. Madkhali,&nbsp;Gasim Dobie,&nbsp;Aymen M. Madkhali,&nbsp;Basem Madkhali,&nbsp;Yahia Hummadi,&nbsp;Abdullah Meshi,&nbsp;Mohammad S. Akhter,&nbsp;Abdullah A. Mobarki,&nbsp;Muhammad Saboor","doi":"10.1111/iji.12577","DOIUrl":"10.1111/iji.12577","url":null,"abstract":"<p>Introduction: Rh and Kell blood group systems are amongst the most important blood group systems; being highly immunogenic after ABO system. The aim of this study was to evaluate the frequencies of Rh antigens, haplotypes and K antigen among blood donors belonging to various ethnicities in Samtah, Jazan, Saudi Arabia.</p><p>Methods: This study was conducted during January 2019 and August 2020 at Samtah General Hospital, Samtah. Records of all blood donors recruited during this period were included for data acquisition. A total of 4977 blood donors’ records were reviewed and data were analysed. A total of 3863 donors’ results were considered in the final analysis.</p><p>Results: In comparison to Saudi blood donors, C antigen was less frequent in Sudanese donors (69.7% and 34.0%), the c antigen was less frequent in Indian (79.2% and 59.3%) and Philippine (79.2% and 40.0%) donors and more frequent in Sudanese (79.2% and 97.9%) donors, the E antigen was less frequent in Yemini (27.0% and 19.5%) and the e antigen was more frequent in Yemini (96.7% and 99.2%) donors. The DcE haplotype was less frequent (3.1% and 0.7%) and the ce haplotype was more frequent (4.3% and 7.6%) in Yemini donors. The K antigen was less frequent in Pakistani (11.9% and 4.1%; <i>p</i> = .041) and Indian (11.9% and 1.9%; <i>p</i> = .023) donors.</p><p>Conclusion: Rh and K antigens showed marked variations in their frequencies among blood donors of different ethnicities. Utilization of blood from various ethnicities warrant extended phenotyping of Rh and K antigens to avoid the risk of alloimmunization in multiply transfused patients.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2022-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44934300","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 January, February and March 2022","authors":"Steven G. E. Marsh","doi":"10.1111/iji.12575","DOIUrl":"10.1111/iji.12575","url":null,"abstract":"The following sequences have been submitted to the Nomenclature Committee since theOctober, November andDecember 2021 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. An additional 295 alleles were recently published but have not been included in Table 3 due to space considerations (Turner et al., 2022). In addition, the sequence for the allele A*02:01:08 has been extended to become a new A*02 protein variant. The allele name A*02:01:08 has been abandoned and the sequence renamed A*02:1040. Furthermore, the sequence for the allele C*08:01:08 has been extended and shown to be a new silent variant of the C*08:22 protein group. The allele name C*08:01:08 has been abandoned and the sequence renamed C*08:22:02. 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 www.ebi.ac.uk/ipd/imgt/hla.","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2022-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41856220","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 study of TAP and HLA-I gene combination with chronic hepatitis C virus infection in a Han population in China","authors":"Yufen Tao,&nbsp;Xue Han,&nbsp;Nannan Liu,&nbsp;Lei Shi,&nbsp;Li Shi,&nbsp;Shuyuan Liu,&nbsp;Yufeng Yao","doi":"10.1111/iji.12574","DOIUrl":"10.1111/iji.12574","url":null,"abstract":"<p>Host immune system genes play key roles in the progression of chronic hepatitis C virus (HCV) infection. Transporters associated with antigen processing (TAP) play an important role in the loading of viral peptides onto MHC class I molecules. This study aimed to investigate the association between <i>TAP</i> gene polymorphisms and chronic HCV in a Chinese Han population. A total of 232 chronic hepatitis C (CHC) patients and 362 healthy individuals were recruited from the Han population in Yunnan province in southwest China, and a TaqMan SNP genotyping assay was used to detect six single nucleotide polymorphisms (SNPs) of <i>TAP1</i> and three SNPs of <i>TAP2</i> genes. The association of the <i>TAP</i> gene with CHC was analysed at the allele, genotype, and haplotype levels. There were no significant differences in the allele and genotype frequencies of these SNPs in the <i>TAP</i> gene between CHC patients and controls after Bonferroni correction. A novel <i>TAP1</i> allele (<i>TAP1*unknown_1</i>: rs41555220-rs41549617-rs1057141-rs1135216-rs1057149-rs41551515: G-G-A-G-G-G) was only present in the CHC group, and this allele significantly increased susceptibility to CHC (<i>p </i>= .005, odds ratio [OR] = 11.105. 95% confidence interval [CI]: 1.362–90.558). Homozygous <i>TAP1*03:01/TAP1*03:01</i> was observed only in the CHC group that exhibited an obvious risk for CHC (<i>p </i>= .002, OR = 9.637, 95% CI: 1.153–80.574). And the haplotype <i>TAP1*unknown_1-TAP2*01:01</i> was only present in the CHC group and indicated a significant risk for CHC (<i>p </i>= .002, OR = 9.498, 95% CI: 1.140–79.149). We observed significant interactions among <i>HLA-A</i>, <i>-B</i>,<i>C</i>, <i>TAP1</i>, and <i>TAP2</i> alleles, and combination analysis revealed that the combination of <i>TAP1*01:01-TAP2*01:01-HLA-B*35:01</i> was only present in the control group (2.2%) and resulted in significantly increased resistance to CHC (<i>p </i>= .002, OR = 0.096, 95% CI: 0.012–0.759). Whereas, the combination of <i>TAP1*01:01-TAP2*01:01-HLA-C*07:02</i> and <i>TAP1*03:01-TAP2*01:01-HLA-C*01:02</i> increased the susceptibility to CHC significantly (<i>p </i>= .001, OR = 2.016, 95% CI: 1.309–3.106 and <i>p </i>= .002, OR = 8.070, 95% CI: 1.018–63.997, respectively). Our results indicated that TAP and HLA-I may exert a combined effect on CHC susceptibility in the Chinese Han population.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2022-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41679148","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":"Erythropoiesis signature and ubiquitin-mediated proteolysis are enriched in systematic juvenile idiopathic arthritis","authors":"Wenping Liu,&nbsp;Dawei Wen,&nbsp;Ziyi Liu,&nbsp;Kunyu Wang,&nbsp;Jibo Wang","doi":"10.1111/iji.12573","DOIUrl":"10.1111/iji.12573","url":null,"abstract":"<p>Systemic Juvenile Idiopathic Arthritis (sJIA) is a distinctive subtype of Juvenile Idiopathic Arthritis (JIA). The pathogenesis of sJIA is still unclear with the limited treatment options. Although previous bioinformatics analyses have identified some genetic factors underlying sJIA, these studies were mostly single centre with a small sample size and the results were often inconsistent. Herein, we combined two data sets of GSE20307 and GSE21521 and select the matrix of patients diagnosed as sJIA in it for further analysis. The GSE20307 and GSE21521 matrixes downloaded from the Gene Expression Omnibus (GEO) were analysed using online tools GEO2R, Venny, Metascape, STRING and Cytoscape to identify differentially expressed genes (DEGs), enrichment pathways, protein–protein interaction (PPI), main module and hub genes between sJIA individuals and healthy controls. A total of 289 overlapping genes (consisting of 41 downregulated genes and 248 upregulated genes) were identified. Hub genes were primarily related to erythropoiesis. And the KEGG (Kyoto Encyclopedia of Genes and Genomes) analysis of overlapping DEGs were mainly involved in malaria and non-small cell lung cancer. Besides, DEGs in main module were involved in ubiquitin-mediated proteolysis. Our study suggests that the erythropoiesis signature indeed exists in sJIA similar to previous reports. And ubiquitin-mediated proteolysis is important in sJIA.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2022-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45857072","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}