The dichotomy between disease phenotype databases and the implications for understanding complex diseases involving the major histocompatibility complex.

abstract：:Heme oxygenase isoenzyme HO-1 has been linked to several cytoprotective functions with a potentially beneficial role in transplantation. In the present study, the effect of genetic variation in HO-1 on renal allograft outcome was investigated. Six hundred and eighty patients subject to renal transplantation in a singl...

journal_title：International journal of immunogenetics

authors： Turpeinen H,Kyllönen LE,Parkkinen J,Laine J,Salmela KT,Partanen J

更新日期：2007-08-01 00:00:00

abstract：:FcγRIIB contains a unique immunoreceptor tyrosine-based inhibition motif (ITIM) and functions as a negative feedback regulator of leucocyte activation and antibody production. We have previously reported FcγRIIB-nt645+25A/G gene polymorphism to be associated with prevalence and severity of periodontitis, FcγRIIB expre...

journal_title：International journal of immunogenetics

authors： Wang Y,Sugita N,Kikuchi A,Iwanaga R,Hirano E,Shimada Y,Sasahara J,Tanaka K,Yoshie H

更新日期：2012-12-01 00:00:00

abstract：:Sunlight/ultraviolet (UV) irradiation has been recognized as an important risk factor for developing systemic lupus erythematosus (SLE). However, the interpretation of genetic variations involved in UV-light sensitivity is largely unknown. Recent studies indicated that two genetic variations of ERCC2/XPD gene (rs17997...

journal_title：International journal of immunogenetics

authors： Wan L,Lin YJ,Sheu JJ,Huang CM,Tsai Y,Tsai CH,Wong W,Tsai FJ

更新日期：2009-02-01 00:00:00

abstract：:The aim of this study was to evaluate the frequency of TNFa-e microsatellites and the promoter region (TNF-308 and TNF-238) in HIV/AIDS-infected patients presenting or not lipodystrophy syndrome (LS). The design is the genetic case-control association study. Microsatellite and the TNF promoter region polymorphisms wer...

journal_title：International journal of immunogenetics

authors： Silva MM,Simões RT,Castelli EC,Mendes-Junior CT,Deghaide NH,Tsuda LC,Machado AA,Donadi EA,Fernandes AP

更新日期：2010-10-01 00:00:00

abstract：:We report here a novel human leukocyte antigen (HLA) allele, DRB1*1449, in the Han-Chinese population. The nature of the new allele was confirmed by the sequencing-based typing (SBT) method. Genomic DNA and six subclones containing DNA fragment of DRB1 exon 2 were sequenced in both forward and reverse directions. The ...

journal_title：International journal of immunogenetics

authors： Miao KR,Xue M,Zhou XY,Xu R,Fei XM,Pan QQ,Zhang JW,Zhao X,Fan S,KuKuruga D,Xu AL,Wang CY

更新日期：2006-02-01 00:00:00

abstract：:HLA-DQB1*06:48 has single nucleotide polymorphisms within codons 70 and 62 of exon 2 (GGG>AGG and AAG>AAC) relative to HLA-DQB1*06:02:01 and HLA-DQB1*06:37. This results in amino acid differences (G>R and K>N) that will change the polarity and charge of the encoded antigen and may therefore affect its peptide repertoi...

journal_title：International journal of immunogenetics

authors： Foster L,Tate D,Poulton K

更新日期：2013-08-01 00:00:00

abstract：:Currently, there is a lack of information on polymorphism of human leucocyte antigen-F (HLA-F) gene in ethnically diverse human populations. In this study, HLA-F allelic typing was performed for 690 individuals representing two southern Chinese Han populations (Hunan Han and Guangdong Han) and two northern Chinese pop...

journal_title：International journal of immunogenetics

authors： Pan FH,Liu XX,Tian W

更新日期：2013-10-01 00:00:00

abstract：:Cytokines are essential for the control of the immune response as most of the immunosuppressive drugs target cytokine production or their action. The calcineurin inhibitors (CNIs) cyclosporine (CsA) and tacrolimus are immunosuppressive drugs widely used after renal transplantation to prevent allograft rejection. They ...

journal_title：International journal of immunogenetics

authors： Seyhun Y,Ciftci HS,Kekik C,Karadeniz MS,Tefik T,Nane I,Turkmen A,Oguz FS,Aydin F

更新日期：2015-06-01 00:00:00

abstract：:Haematopoietic stem cell transplantation (HSCT), using unrelated donors (UD), is now a common modality of treatment for individuals with a variety of different diseases. HLA matching has been shown to have a significant impact on patient outcome. This study includes 423 unrelated UK patient/donor pairs. The patients a...

journal_title：International journal of immunogenetics

authors： Shaw BE

更新日期：2008-08-01 00:00:00

abstract：:Autoimmune diabetes [type 1 diabetes mellitus (T1DM), latent autoimmune diabetes in adults (LADA) and part of malnutrition-related diabetes] has been shown to have genetic predisposition. Studies in IDDM 5 have lead to the discovery of a novel polymorphism 163 A-->G, of SUMO4 (small ubiquitin-related modifier) gene, a...

journal_title：International journal of immunogenetics

authors： Sedimbi SK,Kanungo A,Shastry A,Park Y,Sanjeevi CB

更新日期：2007-04-01 00:00:00

abstract：:Toll-like receptor 4 (TLR4) is the most important TLR among the pattern recognition receptors which recognizes lipopolysaccharide of gram-negative bacteria. They identify a highly conserved structure of microbes called pathogen-associated molecular patterns and activate immune and inflammatory responses that have been...

journal_title：International journal of immunogenetics

authors： Sinha S,Singh J,Jindal SK,Birbian N,Singla N

更新日期：2014-12-01 00:00:00

abstract：:Cytotoxic T lymphocytes (CTLs) play an essential role in the control of viral replication during human immunodeficiency virus (HIV) infection. However, the efficacy of the CTL response varies between individuals. We tested the hypothesis that genetic polymorphisms in the lytic effector molecule perforin could influenc...

journal_title：International journal of immunogenetics

authors： McIlroy D,Meyer L,Dudoit Y,Samri A,Delfraissy JF,Autran B,Debré P,Theodorou I

更新日期：2006-04-01 00:00:00

abstract：:The killer-cell immunoglobulin-like receptors (KIR) form a diverse family of receptors that control the functions of natural killer cells. Sequencing of KIR from primates has revealed the unexpected extent to which this gene family has diversified mostly likely in response to pathogens and to pathogen-mediated selecti...

journal_title：International journal of immunogenetics

authors： Martinez-Borra J,Khakoo SI

更新日期：2008-04-01 00:00:00

abstract：:According to the IMGT/HLA Database, the DNA sequence of A*11:53 is identical to A*11:02:01 in exons 2, 3, 4 and 5 except at codon 276. A*11:53 was reported as a rare variant of A*11, while A*11:02:01 was understood to be the second most frequently observed variant of A*11 after A*11:01:01 in Taiwanese. We sequenced HL...

journal_title：International journal of immunogenetics

authors： Yang KL,Chu CC,Marsh SG,Lin PY

更新日期：2012-12-01 00:00:00

abstract：:We propose a bioinformatics pipeline in which we use an ESTs database to predict and validate single-nucleotide polymorphisms (SNPs) directly linked to gene-coding regions at the HLA class I genes (HLA-A, HLA-B and HLA-C). Annotation originated from our analysis revealed various classes of possible new variations that...

journal_title：International journal of immunogenetics

authors： Figueiredo TC,de Oliveira JR

更新日期：2012-06-01 00:00:00

abstract：:We report the identification of a novel HLA-DRB1*04, officially named DRB1*0460. It was detected during performing HLA-DRB1 high resolution typing by DNA sequencing-based method. The exon 2 nucleotide sequence of DRB1*0460 is identical to that of DRB1*040301 except at codon 63 (AGC-->AAC), changing the encoded serine ...

journal_title：International journal of immunogenetics

authors： Frison S,Rinaldini C,Pagoda M,Brambilla C,Poli F

更新日期：2007-02-01 00:00:00

abstract：:A novel MICB allele, MICB*030, has been identified in a healthy Chinese individual of Mongol ethnicity residing in northern China by polymerase chain reaction sequence-based typing (PCR-SBT) and confirmed by cloning and sequencing. MICB*030 was linked to HLA-B*35. Aligned with MICB*005:02, MICB*030 has a nonsynonymous...

journal_title：International journal of immunogenetics

authors： Wang WY,Wang F,Tian W

更新日期：2015-08-01 00:00:00

abstract：:Type I interferons (IFN) are important mediators of the host defence against viruses through binding to the cell surface receptors, among which the binding to type I IFN receptor 2 (IFNAR2) is the very first step initiating a complex signal transduction cascade. By using RT-PCR and 5' RACE approaches, we obtained porc...

journal_title：International journal of immunogenetics

authors： Xing F,Li Y,Liang S,Liu D,Jiang C,Zhang Y,Kang L,Jiang Y

更新日期：2011-08-01 00:00:00

abstract：:Illumina first introduced their TruSight human leucocyte antigen (HLA) next-generation sequencing (NGS) typing kit in 2015 and subsequently followed up with a new version in 2016. Here we report on our experience comparing the two versions of the Illumina HLA NGS kits. ...

journal_title：International journal of immunogenetics

authors： Profaizer T,Lázár-Molnár E,Pole A,Delgado JC,Kumánovics A

更新日期：2017-08-01 00:00:00

abstract：:A new allelic variant in MICB*005 lineage, MICB*005:09, has been identified in a male Uyghur individual recruited from Xinjiang Uyghur Autonomous Region, China by PCR-sequence-based typing (Sanger sequencing) and confirmed by cloning and sequencing. Aligned with MICB*005:03, this new allelic variant shows a synonymous...

journal_title：International journal of immunogenetics

authors： Tursun M,Wang Z,Guo W,Hasim A,Tian W

更新日期：2019-02-01 00:00:00

abstract：:Induced heteroduplex genotyping (IHG) is one of many methods that can be used to determine single nucleotide polymorphisms (SNPs). It is relatively new in comparison to other polymerase chain reaction (PCR)-based techniques. The aim of this study was to compare the results of genotyping using IHG with the results of g...

journal_title：International journal of immunogenetics

authors： Bown MJ,Weston S,Horsburgh T,Nicholson ML,Bell PR,Sayers RD

更新日期：2005-04-01 00:00:00

abstract：:The objective was to analyze the possible involvement of tumour necrosis factor-alpha (TNF-α) -308 G/A promoter polymorphism in the susceptibility and/or the disease profile of rheumatoid arthritis (RA) in Egyptian patients. TNF-α-308 G/promoter polymorphism detection by amplification refractory mutation system (ARMS)...

journal_title：International journal of immunogenetics

authors： Mosaad YM,Abdelsalam A,El-Bassiony SR

更新日期：2011-10-01 00:00:00

abstract：:Routine HLA typing of a renal patient for purposes of registration for transplantation revealed an unusual human leucocyte antigen (HLA)-B and Cw genotype, with three specificities detected. Results were confirmed in a second sample, and in a second laboratory. The possibility of these results reflecting a chimaeric s...

journal_title：International journal of immunogenetics

authors： Poole K,Montague B,Roberts R,Stoves J,Bendukidze N,Clark B

更新日期：2006-08-01 00:00:00

abstract：:C-reactive protein (CRP) is an inflammation marker implicated in the pathogenesis of schizophrenia. To investigate association of the CRP rs1417938, rs1800947, rs1205 variants with susceptibility to schizophrenia 208 unrelated Armenians (103 patients and 105 healthy controls) were genotyped. In this pilot study, none ...

journal_title：International journal of immunogenetics

authors： Zakharyan R,Chavushyan A,Khoyetsyan A,Stahelova A,Arakelyan A,Boyajyan A,Mrazek F,Petrek M

更新日期：2010-10-01 00:00:00

abstract：:The Toll-like receptors (TLRs) are related to innate immunity. TLR9, a member of TLRs, is expressed in immune cell-rich tissues and mediates cellular response. We investigated the association between TLR9 polymorphisms and kidney allograft outcomes. To investigate whether TLR9 polymorphisms are associated with acute r...

journal_title：International journal of immunogenetics

authors： Kim TH,Jeong KH,Kim SK,Lee SH,Ihm CG,Lee TW,Moon JY,Yoon YC,Chung JH,Park SJ,Kang SW,Kim YH

更新日期：2013-12-01 00:00:00

abstract：:Polymorphisms within genes coding innate immune response proteins are involved in genetic susceptibility to various conditions. We investigated the frequency of P2RX7 A1513C and TLR2 -196 to -174 ins/del polymorphisms in healthy Polish population. Frequency of minor alleles was relatively similar to the pattern presen...

journal_title：International journal of immunogenetics

authors： Lewandowska M,Garczyńska P,Jędrychowska-Dańska K,Kopczyńska P,Masłowska A,Witas H

更新日期：2015-06-01 00:00:00

abstract：:Mannose-binding lectin (MBL) is a key molecule of the innate immune system and a competent to bind carbohydrates of a variety of microorganisms, resulting in complement activation and opsonophagocytosis against various pathogens. However, there is no systemic investigation on the MBL's role in innate immune responses ...

journal_title：International journal of immunogenetics

authors： Sheng A,Lan J,Wu H,Lu J,Wang Y,Chu Q,Jia Z,Song M,Liu L,Wang W

更新日期：2010-12-01 00:00:00

abstract：:We have characterized the HLA-A, -B, -DRB1, -DQA1 and -DQB1 profiles of three major ethnic groups living in Chelyabinsk Region of Russian South Urals, viz., Russians (n = 207), Bashkirs (n = 146) and Tatars (n = 135). First field level typing was performed by PCR using sequence-specific primers. Estimates included car...

journal_title：International journal of immunogenetics

authors： Suslova TA,Burmistrova AL,Chernova MS,Khromova EB,Lupar EI,Timofeeva SV,Devald IV,Vavilov MN,Darke C

更新日期：2012-10-01 00:00:00

abstract：:The distributions of HLA allele and haplotype are variable in different ethnic populations and the data for some populations have been published. However, the data on HLA-C and HLA-DQB1 loci and the haplotype of HLA-A, HLA-B, HLA-C, HLA-DRB1 and HLA-DQB1 loci at a high-resolution level are limited in Zhejiang Han popu...

journal_title：International journal of immunogenetics

authors： Chen N,Wang W,Wang F,Dong L,Zhao S,Zhang W,He J,Huang H,Zhu F

更新日期：2019-02-01 00:00:00

abstract：:Tumour necrosis factor alpha (TNF-α) has an important role in inflammatory response. Alterations in the regulation of TNF-α have been implicated in a variety of inflammatory disorders, including Inflammatory bowel disease (IBD). Indeed, a common treatment for IBD is the use of TNF-α inhibitors. Polymorphisms in the TN...

journal_title：International journal of immunogenetics

authors： López-Hernández R,Valdés M,Campillo JA,Martínez-Garcia P,Salama H,Salgado G,Boix F,Moya-Quiles MR,Minguela A,Sánchez-Torres A,Miras M,Garcia A,Carballo F,Álvarez-López MR,Muro M

更新日期：2014-02-01 00:00:00