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Major histocompatibility complex class I chain related gene-A microsatellite polymorphism shows secondary association with type 1 diabetes and celiac disease in North Indians. 主要组织相容性复合体I类链相关基因- a微卫星多态性与北印度人1型糖尿病和乳糜泻的继发性关联
Pub Date : 2012-10-01 Epub Date: 2012-07-26 DOI: 10.1111/j.1399-0039.2012.01931.x
N Kumar, G Sharma, G Kaur, N Tandon, S Bhatnagar, N Mehra

Microsatellite polymorphism in exon 5 of major histocompatibility complex class I chain related gene-A (MIC-A) has been implicated in the etiology of autoimmune diseases including type 1 diabetes (T1D) and celiac disease (CD). In this study on North Indian population, the MIC-A5.1 allele, carrying a premature termination codon in transmembrane region, was observed with increased frequency in T1D (29.6%, odds ratio OR = 2.1, P = 0.00017) and CD patients (40.3%, OR = 3.37, P = 1.67E-05) than in controls (16.7%). When the MIC-A5.1 association was adjusted for linkage with human leukocyte antigen (HLA)-DR3, the statistical significance of the association was abolished. This implies that the observed association of MIC-A5.1 is due to its linkage disequilibrium (D' = 0.94) with HLA-B8-DR3-DQ2 haplotype and is secondary to the overall association with DR3 positive MHC haplotypes.

主要组织相容性复合体I类链相关基因- a (MIC-A)外显子5的微卫星多态性与包括1型糖尿病(T1D)和乳糜泻(CD)在内的自身免疫性疾病的病因有关。本研究在北印度人群中发现,MIC-A5.1等位基因在T1D患者(29.6%,比值比OR = 2.1, P = 0.00017)和CD患者(40.3%,OR = 3.37, P = 1.67E-05)中的频率高于对照组(16.7%)。MIC-A5.1等位基因在跨膜区携带过早终止密码子。当MIC-A5.1相关性调整为与人类白细胞抗原(HLA)-DR3的连锁时,该相关性的统计学意义被取消。这表明MIC-A5.1的关联是由于其与HLA-B8-DR3-DQ2单倍型的连锁不平衡(D′= 0.94),其次是与DR3阳性MHC单倍型的整体关联。
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引用次数: 22
HLA-DQ association and allele competition in Chinese narcolepsy. 中国嗜睡症患者HLA-DQ相关性及等位基因竞争。
Pub Date : 2012-10-01 Epub Date: 2012-08-04 DOI: 10.1111/j.1399-0039.2012.01948.x
F Han, L Lin, J Li, S X Dong, P An, L Zhao, N Y Liu, Q Y Li, H Yan, Z C Gao, J Faraco, K P Strohl, X Liu, H Miyadera, E Mignot

In Japanese, Koreans and Caucasians, narcolepsy/hypocretin deficiency is tightly associated with the DRB1*15:01-DQA1*01:02-DQB1*06:02 haplotype. Studies in African-Americans suggest a primary effect of DQB1*06:02, but this observation has been difficult to confirm in other populations because of high linkage disequilibrium between DRB1*15:01/3 and DQB1*06:02 in most populations. In this study, we studied human leucocyte antigen (HLA) class II in 202 Chinese narcolepsy patients (11% from South China) and found all patients to be DQB1*06:02 positive. Comparing cases with 103 unselected controls, and 110 and 79 controls selected for the presence of DQB1*06:02 and DRB1*15:01, we found that the presence of DQB1*06:02 and not DRB1*15:01 was associated with narcolepsy. In particular, Southern Chinese haplotypes such as the DRB1*15:01-DQA1*01:02-DQB1*06:01 and DRB1*15:01-DQA1*01:02-DQB1*05 were not associated with narcolepsy. As reported in Japanese, Koreans, African-Americans and Caucasians, additional protective effects of DQA1*01 (non-DQA1*01:02) and susceptibility effects of DQB1*03:01 were observed. These results illustrate the extraordinary conservation of HLA class II effects in narcolepsy across populations and show that DRB1*15:01 has no effect on narcolepsy susceptibility in the absence of DQB1*06:02. The results are also in line with a previously proposed 'HLA-DQ allelic competition model' that involves competition between non-DQA1*01:02, non-DQB1*06:02 'competent' (able to dimerize together) DQ1 alleles and the major DQα*01:02/ DQβ*06:02 narcolepsy heterodimer to reduce susceptibility.

在日本人、韩国人和高加索人中,发作性睡病/下丘脑分泌素缺乏与DRB1*15:01-DQA1*01:02-DQB1*06:02单倍型密切相关。对非裔美国人的研究表明DQB1*06:02的主要影响,但由于在大多数人群中DRB1*15:01/3和DQB1*06:02之间的连锁高度不平衡,这一观察结果很难在其他人群中得到证实。本研究对202例中国发作性睡病患者(11%来自华南地区)进行了人白细胞抗原(HLA)ⅱ类检测,发现所有患者均为DQB1*06:02阳性。将103例未选择的对照,以及110例和79例选择存在DQB1*06:02和DRB1*15:01的对照进行比较,我们发现存在DQB1*06:02而不存在DRB1*15:01与嗜睡症有关。特别是,DRB1*15:01-DQA1*01:02-DQB1*06:01和DRB1*15:01-DQA1*01:02-DQB1*05等单倍型与嗜睡症无关。据报道,在日本、韩国、非洲裔美国人和高加索人中,DQA1*01(非DQA1*01:02)具有额外的保护作用,DQB1*03:01具有易感作用。这些结果说明了HLA II类在不同人群中对发作性睡病的特殊保护作用,并表明在缺乏DQB1*06:02的情况下,DRB1*15:01对发作性睡病的易感性没有影响。该结果也符合先前提出的“HLA-DQ等位基因竞争模型”,该模型涉及非dqa1 *01:02,非dqb1 *06:02“有能力”(能够一起二聚)的DQ1等位基因与主要的DQα*01:02/ DQβ*06:02异源二聚体之间的竞争,以降低嗜睡症的易感性。
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引用次数: 53
Killer immunoglobulin-like receptors (KIR) and their HLA-ligands in Italian paroxysmal nocturnal haemoglobinuria (PNH) patients. 意大利阵发性夜间血红蛋白尿(PNH)患者的杀伤免疫球蛋白样受体(KIR)及其hla配体
Pub Date : 2012-10-01 Epub Date: 2012-07-17 DOI: 10.1111/j.1399-0039.2012.01932.x
E Cosentini, L Gargiulo, P Bruno, S Lastraioli, A Risitano, R Camerlingo, V Luongo, M Serra, M Sica, C Garzillo, U Giani, R Notaro, F Alfinito, G Ruggiero, G Terrazzano

Paroxysmal nocturnal haemoglobinuria (PNH) is a haematopoietic disorder characterized by expansion of phosphatidylinositol glycan-A-defective progenitor(s). Immune-dependent mechanisms, likely involving a deranged T cell-dependent autoimmune response, have been consistently associated with the selection/dominance of PNH precursors. Natural killer (NK) lymphocytes might participate in PNH pathogenesis, but their role is still controversial. NK activity is dependent on the balance between activating and inhibiting signals. Key component in such regulatory network is represented by killer immunoglobulin-like receptors (KIR). KIR are also involved in the regulation of adaptive cytotoxic T cell response and associated with autoimmunity. This study investigated on the frequency of KIR genes and their known human leukocyte antigen (HLA) ligands in 53 PNH Italian patients. We observed increased frequency of genotypes characterized by ≤2 activating KIR as well as by the presence of an inhibitory/activating gene ratio ≥3.5. In addition, an increased matching between KIR-3DL1 and its ligand HLA-Bw4 was found. These genotypes might be associated with lower NK-dependent recognition of stress-related self molecules; this is conceivable with the hypothesis that an increased availability of specific T cell targets, not cleared by NK cells, could be involved in PNH pathogenesis. These data may provide new insights into autoimmune PNH pathogenesis.

阵发性夜间血红蛋白尿(PNH)是一种以磷脂酰肌醇聚糖- a缺陷祖细胞扩张为特征的造血系统疾病。免疫依赖性机制,可能涉及一种紊乱的T细胞依赖性自身免疫反应,一直与PNH前体的选择/优势相关。自然杀伤(NK)淋巴细胞可能参与PNH的发病机制,但其作用仍有争议。NK活性依赖于激活和抑制信号之间的平衡。这种调控网络的关键组成部分是杀伤免疫球蛋白样受体(KIR)。KIR还参与调节适应性细胞毒性T细胞反应并与自身免疫相关。本研究调查了53例意大利PNH患者的KIR基因及其已知人类白细胞抗原(HLA)配体的频率。我们观察到,以≤2个激活KIR以及抑制/激活基因比值≥3.5为特征的基因型频率增加。此外,还发现KIR-3DL1与其配体HLA-Bw4的匹配度增加。这些基因型可能与较低的nk依赖性应激相关自身分子识别有关;这是可以想象的假设,特异性T细胞靶点的可用性增加,未被NK细胞清除,可能参与PNH发病机制。这些数据可能为自身免疫性PNH发病机制提供新的见解。
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引用次数: 4
A new HLA-C*07:244 allele identified by sequence-based typing in a Korean individual. 韩国人HLA-C*07:244等位基因序列分型分析
Pub Date : 2012-10-01 Epub Date: 2012-08-04 DOI: 10.1111/j.1399-0039.2012.01937.x
D Cho, M J Jang, C E Yoon, O J Kwon, M G Shin

The C*07:244 changes single nucleotide of C*07:02:01 at codon 75 (CGA → CAA), Arg to Gln.

C*07:244在密码子75 (CGA→CAA), Arg到Gln上改变C*07:02:01的单核苷酸。
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引用次数: 4
Evaluation of sequence-specific priming and real-time polymerase chain reaction assays for detecting HLA-B*51 alleles confirmed by sequence-based typing. 序列特异性引物和实时聚合酶链反应检测经序列分型确认的HLA-B*51等位基因
Pub Date : 2012-10-01 Epub Date: 2012-08-02 DOI: 10.1111/j.1399-0039.2012.01942.x
Y Park, Y S Kim, S I Kim, H Kim, H S Kim

The human leukocyte antigen (HLA)-B*51 genotype is one of the well-known genetic factors associated with the development of Behcet's disease. We evaluated three sequence-specific priming (SSP) assays and one real-time PCR assay for detecting HLA-B*51 alleles using 93 whole blood samples, which were genotyped by high-resolution sequence-based typing (SBT). All HLA-B*51 alleles determined by SBT were detected by the four evaluated assays, and the results for all HLA-B alleles other than HLA-B*51 were negative on all assays. Thus, all HLA-B51 tests showed 100% sensitivity and 100% specificity for detecting HLA-B*51 alleles. The three SSP assays and the real-time PCR test for HLA-B*51 genotyping are simple, but reliable for detecting HLA-B*51 alleles in clinical laboratories.

人类白细胞抗原(HLA)-B*51基因型是众所周知的与白塞病发展相关的遗传因素之一。我们使用93份全血样本,对3种序列特异性引物(SSP)和1种实时PCR检测HLA-B*51等位基因的方法进行了评估,并通过高分辨率序列分型(SBT)对这些样本进行了基因分型。4种评价方法均检测到SBT检测到的所有HLA-B*51等位基因,除HLA-B*51等位基因外,其余等位基因均为阴性。因此,所有HLA-B51试验检测HLA-B*51等位基因的敏感性为100%,特异性为100%。三种SSP法和实时PCR法检测HLA-B*51基因分型方法简单,但在临床实验室检测HLA-B*51等位基因时可靠。
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引用次数: 2
MiR-146a polymorphism is associated with asthma but not with systemic lupus erythematosus and juvenile rheumatoid arthritis in Mexican patients. 在墨西哥患者中,MiR-146a多态性与哮喘相关,但与系统性红斑狼疮和幼年类风湿性关节炎无关。
Pub Date : 2012-10-01 Epub Date: 2012-07-24 DOI: 10.1111/j.1399-0039.2012.01929.x
S Jiménez-Morales, R Gamboa-Becerra, V Baca, B E Del Río-Navarro, D Y López-Ley, R Velázquez-Cruz, Y Saldaña-Alvarez, G Salas-Martínez, L Orozco

Extensive research has shown that aberrant expression of microRNAs (miRNAs) plays an important role in innate and adaptive immune responses. The rs2910164 polymorphism has been identified as a functional variant, which affects the transcription and expression level of miR-146a and, thereby, contributes to the pathogenesis of several inflammatory and autoimmune diseases. To investigate whether the rs2910164 G/C polymorphism was associated with asthma, systemic lupus erythematosus (SLE) or juvenile rheumatoid arthritis (JRA), we performed an association study in a pediatric Mexican cohort. We included 979 pediatric patients (asthma: 402, SLE: 367 and JRA: 210) and 531 control subjects without inflammatory or immune diseases. Genotyping was performed using the 5' exonuclease technique. The genotype distribution of the rs2910164 polymorphism was in Hardy-Weinberg equilibrium in each group. No significant differences were detected in the distribution of this polymorphism between cases and controls (P = 0.108, 0.609 and 0.553 for subjects with asthma, JRA and SLE, respectively). However, stratification by gender showed a statistically significant difference between asthmatic and control females, where the C allele was significantly associated with protection to asthma (odds ratio = 0.694, 95% confidence interval 0.519-0.929, P = 0.0138). Our results provide evidence that rs2910164 may play a role in the susceptibility to childhood-onset asthma, but not SLE or JRA in Mexicans. Further association studies may contribute to determining the role of miR-146a single-nucleotide polymorphisms in immune-mediated diseases.

大量研究表明,microRNAs (miRNAs)的异常表达在先天和适应性免疫反应中起着重要作用。rs2910164多态性已被确定为一种功能变异,它影响miR-146a的转录和表达水平,从而参与多种炎症和自身免疫性疾病的发病机制。为了研究rs2910164 G/C多态性是否与哮喘、系统性红斑狼疮(SLE)或幼年类风湿性关节炎(JRA)相关,我们在墨西哥儿童队列中进行了一项关联研究。我们纳入了979名儿童患者(哮喘:402名,SLE: 367名,JRA: 210名)和531名无炎症或免疫性疾病的对照组。采用5′外切酶技术进行基因分型。rs2910164多态性的基因型分布符合Hardy-Weinberg平衡。该多态性在哮喘、JRA和SLE患者的分布无显著差异(P分别为0.108、0.609和0.553)。然而,性别分层显示哮喘女性与对照组之间存在统计学差异,其中C等位基因与哮喘保护显著相关(优势比= 0.694,95%可信区间为0.519-0.929,P = 0.0138)。我们的研究结果证明rs2910164可能在墨西哥人儿童期发作哮喘的易感性中发挥作用,但在SLE或JRA中不起作用。进一步的关联研究可能有助于确定miR-146a单核苷酸多态性在免疫介导疾病中的作用。
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引用次数: 80
Identification of the novel allele HLA-A*33:22 by sequence-based typing in a Chinese individual. 中国人新型等位基因HLA-A*33:22的序列分型鉴定
Pub Date : 2012-10-01 Epub Date: 2012-07-15 DOI: 10.1111/j.1399-0039.2012.01924.x
J-H Xie, L-N Yan, S-Y Li, S-P An, Y-H Yuan

The novel A*33:22 differs from A*33:03:01 by two nucleotides at position 12(A>G)and 19(T>G)of exon 3.

新发现的A*33:22与A*33:03:01的不同之处在于外显子3的第12位(A>G)和第19位(T>G)有两个核苷酸。
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引用次数: 3
Detection of a novel HLA-DQB1 allele, designated DQB1*06:49. 检测到一种新的HLA-DQB1等位基因,命名为DQB1*06:49。
Pub Date : 2012-10-01 Epub Date: 2012-07-09 DOI: 10.1111/j.1399-0039.2012.01927.x
K Todorova, G Diederich, W Ebell, J-S Kühl, C Schönemann, H Schulze

We report a novel allele HLA-DQB1*06:49 with a G→T transversion, most closely resembling HLA-DQB1*06:02:01.

我们报道了一个新的等位基因HLA-DQB1*06:49,具有G→T翻转,与HLA-DQB1*06:02:01最相似。
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引用次数: 3
The frequencies of human neutrophil alloantigens among the Japanese population. 日本人群中人类中性粒细胞异体抗原的频率。
Pub Date : 2012-10-01 Epub Date: 2012-07-09 DOI: 10.1111/j.1399-0039.2012.01930.x
M Matsuhashi, N H Tsuno, M Kawabata, Y Mishima, N Okochi, S Santoso, M Tozuka, K Takahashi

Human neutrophil antigens (HNAs) play an important role in a variety of clinical conditions including immune-mediated neutropenia, non-hemolytic transfusion reactions, and transfusion-related acute lung injury. The aim of this study was to investigate the frequency distribution of HNAs-1 to -5 among the Japanese population. We analyzed samples from 570 healthy Japanese by molecular and serologic techniques to estimate the gene frequencies of HNAs-1 to -5. DNA samples were obtained and typed for the HNA-1 (n = 523), -3 (n = 570), -4 (n = 570), and -5 (n = 508), by molecular techniques. The HNA-1 genotype was determined by using a commercial polymerase chain reaction-reverse sequence-specific oligonucleotide probes (PCR-rSSOP) kit. The HNA-3 to -5 genotypes were determined by the PCR-sequence specific primer (PCR-SSP), previously described, with a small modification. The HNA-2a phenotype was determined in 301 donors by granulocyte immunofluorescence test. In Japanese, the gene frequencies of HNA-1a, -1b, and -1c were 0.623, 0.377, and 0.000, respectively. The frequency of HNA-2a phenotype was 0.987, and the gene frequencies of HNA-3a and -3b were 0.654 and 0.346, respectively. HNA-4a and -4b were found at 1.000 and 0.000, respectively, and HNA-5a and -5b at 0.840 and 0.160, respectively. We describe, for the first time, the frequencies of all HNAs (HNA-1 to -5) among the Japanese population. This study will be helpful for the prediction of the risk of alloimmunization to HNA, especially to determine the risk of HNA alloantibody production by transfusion of HNA incompatible blood and feto-maternal incompatibility.

人中性粒细胞抗原(HNAs)在多种临床疾病中发挥重要作用,包括免疫介导的中性粒细胞减少症、非溶血性输血反应和输血相关的急性肺损伤。本研究的目的是调查HNAs-1至-5在日本人群中的频率分布。我们通过分子和血清学技术分析了570名健康日本人的样本,以估计HNAs-1至-5的基因频率。提取DNA样本,采用分子技术对na -1 (n = 523)、-3 (n = 570)、-4 (n = 570)和-5 (n = 508)进行分型。采用商用聚合酶链反应-反序列特异性寡核苷酸探针(PCR-rSSOP)试剂盒测定na -1基因型。rna -3至-5基因型由先前描述的pcr序列特异性引物(PCR-SSP)确定,并进行了小修改。用粒细胞免疫荧光法测定301例供体的na -2a表型。日本人的HNA-1a、-1b和-1c基因频率分别为0.623、0.377和0.000。HNA-2a表型频率为0.987,HNA-3a和-3b基因频率分别为0.654和0.346。na -4a和-4b分别为1.000和0.000,na -5a和-5b分别为0.840和0.160。我们首次描述了日本人口中所有hna (HNA-1至-5)的频率。本研究将有助于预测异体免疫对海航的风险,特别是确定输血海航不相容血和胎母不相容产生海航异体抗体的风险。
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引用次数: 30
Super high resolution for single molecule-sequence-based typing of classical HLA loci at the 8-digit level using next generation sequencers. 使用下一代测序仪在8位水平上对经典HLA位点进行单分子序列分型的超高分辨率。
Pub Date : 2012-10-01 Epub Date: 2012-08-04 DOI: 10.1111/j.1399-0039.2012.01941.x
T Shiina, S Suzuki, Y Ozaki, H Taira, E Kikkawa, A Shigenari, A Oka, T Umemura, S Joshita, O Takahashi, Y Hayashi, M Paumen, Y Katsuyama, S Mitsunaga, M Ota, J K Kulski, H Inoko

Current human leukocyte antigen (HLA) DNA typing methods such as the sequence-based typing (SBT) and sequence-specific oligonucleotide (SSO) methods generally yield ambiguous typing results because of oligonucleotide probe design limitations or phase ambiguity for HLA allele assignment. Here we describe the development and application of the super high-resolution single-molecule sequence-based typing (SS-SBT) of HLA loci at the 8-digit level using next generation sequencing (NGS). NGS which can determine an HLA allele sequence derived from a single DNA molecule is expected to solve the phase ambiguity problem. Eight classical HLA loci-specific polymerase chain reaction (PCR) primers were designed to amplify the entire gene sequences from the enhancer-promoter region to the 3' untranslated region. Phase ambiguities of HLA-A, -B, -C, -DRB1 and -DQB1 were completely resolved and unequivocally assigned without ambiguity to single HLA alleles. Therefore, the SS-SBT method described here is a superior and effective HLA DNA typing method to efficiently detect new HLA alleles and null alleles without ambiguity.

目前的人类白细胞抗原(HLA) DNA分型方法,如基于序列的分型(SBT)和序列特异性寡核苷酸(SSO)方法,由于HLA等位基因分配的寡核苷酸探针设计限制或阶段模糊,通常会产生模糊的分型结果。本文描述了利用下一代测序技术(NGS)在8位水平上进行HLA位点的超高分辨率单分子序列分型(SS-SBT)的发展和应用。NGS可以确定来自单个DNA分子的HLA等位基因序列,有望解决相位模糊问题。设计了8种经典的HLA位点特异性聚合酶链反应(PCR)引物,将整个基因序列从增强子-启动子区扩增到3'非翻译区。HLA- a、-B、-C、-DRB1和-DQB1的相歧义被完全解决,明确无误地分配给单个HLA等位基因。因此,本文所描述的SS-SBT方法是一种优越而有效的HLA DNA分型方法,可以有效地检测新的HLA等位基因和空等位基因,没有歧义。
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引用次数: 148
期刊
Tissue antigens
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