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New insights into the genetics of immune responses in rheumatoid arthritis. 类风湿关节炎免疫反应遗传学的新见解。
Pub Date : 2012-08-01 DOI: 10.1111/j.1399-0039.2012.01939.x
A Ruyssen-Witrand, A Constantin, A Cambon-Thomsen, M Thomsen

Rheumatoid arthritis (RA) is a common autoimmune disease with a strong genetic component. Numerous aberrant immune responses have been described during the evolution of the disease. In later years, the appearance of anti-citrullinated protein antibodies (ACPAs) has become a hallmark for the diagnosis and prognosis of RA. The post-translational transformation of arginine residues of proteins and peptides into citrulline (citrullination) is a natural process in the body, but for unknown reasons autoreactivity towards citrullinated residues may develop in disposed individuals. ACPAs are often found years before clinical manifestations. ACPAs are present in about 70% of RA patients and constitute an important disease marker, distinguishing patient groups with different prognoses and different responses to various treatments. Inside the human leukocyte antigen (HLA) region, some HLA-DRB1 alleles are strongly associated with their production. Genome-wide association studies in large patient cohorts have defined a great number of single nucleotide polymorphisms (SNPs) outside of the HLA region that are associated with ACPA positive (ACPA+) RA. The SNPs are generally located close to or within genes involved in the immune response or signal transduction in immune cells. Some environmental factors such as tobacco smoking are also positively correlated with ACPA production. In this review, we will describe the genes and loci associated with ACPA+ RA or ACPA- RA and attempt to clarify their potential role in the development of the disease.

类风湿性关节炎(RA)是一种常见的自身免疫性疾病,具有很强的遗传成分。在疾病的发展过程中,已经描述了许多异常的免疫反应。近年来,抗瓜氨酸蛋白抗体(ACPAs)的出现已成为RA诊断和预后的标志。蛋白质和多肽的精氨酸残基翻译后转化为瓜氨酸(瓜氨酸化)在体内是一个自然过程,但由于未知的原因,对瓜氨酸残基的自身反应可能在处理个体中发展。acpa通常在临床表现前几年被发现。ACPAs存在于约70%的RA患者中,是一种重要的疾病标志物,可以区分不同预后和不同治疗反应的患者群体。在人类白细胞抗原(HLA)区域内,一些HLA- drb1等位基因与它们的产生密切相关。在大型患者队列中进行的全基因组关联研究已经确定了HLA区域外与ACPA阳性(ACPA+) RA相关的大量单核苷酸多态性(snp)。这些snp通常位于免疫细胞中参与免疫反应或信号转导的基因附近或内部。吸烟等环境因素也与ACPA的产生呈正相关。在这篇综述中,我们将描述与ACPA+ RA或ACPA- RA相关的基因和位点,并试图阐明它们在疾病发展中的潜在作用。
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引用次数: 30
HapMap SNP Scanner: an online program to mine SNPs responsible for cell phenotype. HapMap SNP扫描器:一个在线程序,以挖掘负责细胞表型的SNP。
Pub Date : 2012-08-01 Epub Date: 2012-05-08 DOI: 10.1111/j.1399-0039.2012.01883.x
T Yamamura, J Hikita, M Bleakley, T Hirosawa, A Sato-Otsubo, H Torikai, T Hamajima, Y Nannya, A Demachi-Okamura, E Maruya, H Saji, Y Yamamoto, T Takahashi, N Emi, Y Morishima, Y Kodera, K Kuzushima, S R Riddell, S Ogawa, Y Akatsuka

Minor histocompatibility (H) antigens are targets of graft-vs-host disease and graft-vs-tumor responses after human leukocyte antigen matched allogeneic hematopoietic stem cell transplantation. Recently, we reported a strategy for genetic mapping of linkage disequilibrium blocks that encoded novel minor H antigens using the large dataset from the International HapMap Project combined with conventional immunologic assays to assess recognition of HapMap B-lymphoid cell line by minor H antigen-specific T cells. In this study, we have constructed and provide an online interactive program and demonstrate its utility for searching for single-nucleotide polymorphisms (SNPs) responsible for minor H antigen generation. The website is available as 'HapMap SNP Scanner', and can incorporate T-cell recognition and other data with genotyping datasets from CEU, JPT, CHB, and YRI to provide a list of candidate SNPs that correlate with observed phenotypes. This method should substantially facilitate discovery of novel SNPs responsible for minor H antigens and be applicable for assaying of other specific cell phenotypes (e.g. drug sensitivity) to identify individuals who may benefit from SNP-based customized therapies.

次要组织相容性(H)抗原是人白细胞抗原匹配异体造血干细胞移植后移植物抗宿主病和移植物抗肿瘤反应的靶标。最近,我们报道了一种连锁不平衡块的遗传定位策略,该策略使用来自国际HapMap项目的大型数据集,结合传统的免疫学分析,来评估小H抗原特异性T细胞对HapMap b淋巴细胞系的识别。在这项研究中,我们构建并提供了一个在线互动程序,并展示了其用于搜索与次要H抗原产生有关的单核苷酸多态性(snp)的实用性。该网站名为“HapMap SNP Scanner”,可以将t细胞识别和其他数据与来自CEU, JPT, CHB和YRI的基因分型数据集结合起来,提供与观察到的表型相关的候选SNP列表。该方法将极大地促进发现负责次要H抗原的新snp,并适用于分析其他特定细胞表型(例如药物敏感性),以确定可能从基于snp的定制治疗中受益的个体。
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引用次数: 5
In vitro up-regulation of HLA-G using dexamethasone and hydrocortisone in first-trimester trophoblast cells of women experiencing recurrent miscarriage. 地塞米松和氢化可的松对妊娠早期复发性流产妇女滋养细胞HLA-G的体外上调作用。
Pub Date : 2012-08-01 Epub Date: 2012-05-04 DOI: 10.1111/j.1399-0039.2012.01884.x
A Akhter, R M Faridi, V Das, A Pandey, S Naik, S Agrawal

The trophoblast cells at the maternal-fetal interface express an unusual combination of human leukocyte antigen (HLA)-C, HLA-E and HLA-G. Altered expression of HLA-G on the extravillous cytotrophoblast has been implicated in the etiology of recurrent miscarriages (RMs). We have assessed HLA-G expression in extravillous cytotrophoblast in cell cultures prepared from RM patients and compared with those of first-trimester voluntarily terminated normal pregnancies (control). Glucocorticoids, dexamethasone and hydrocortisone were examined for their role in modulation of the HLA-G expression. HLA-G promoter and 3'UTR variants were investigated for their effect on the transcription of HLA-G. Cultured cytotrophoblast cells from the first-trimester RM patients were treated with dexamethasone and hydrocortisone (dose concentration 0-1000 ng/ml). HLA-G gene transcription was determined by semiquantitative and quantitative real-time polymerase chain reaction (RT-PCR), while protein expression was determined by a specific enzyme-linked immunosorbent assay (ELISA), flow cytometry and western blot analyses. HLA-G polymorphisms were detected by PCR and/or sequence-based typing. Low level of HLA-G was observed in untreated trophoblast cells obtained from RM patients as compared with controls. Upon treatment with glucocorticoids, the expression of HLA-G in these cells was up-regulated in a dose-dependent manner (P < 0.05), with no change in cellular proliferation and viability. There was no significant association between HLA-G polymorphism in RM patients and controls. HLA-G is minimally expressed in cultured trophoblast cells of RM patients. It can be up-regulated upon exposure with both dexamethasone and hydrocortisone. Glucocorticoids have the potential to modulate HLA-G expression in vitro, and can be further examined for their therapeutic applicability in RM.

母胎界面的滋养细胞表达一种罕见的人白细胞抗原(HLA)-C、HLA- e和HLA- g的组合。HLA-G在胞外滋养细胞上的表达改变与复发性流产(RMs)的病因有关。我们评估了从RM患者制备的细胞培养物中上皮外细胞滋养细胞中HLA-G的表达,并与妊娠早期自愿终止正常妊娠的患者(对照组)进行了比较。糖皮质激素、地塞米松和氢化可的松在调节HLA-G表达中的作用。研究了HLA-G启动子和3'UTR变异对HLA-G转录的影响。用地塞米松和氢化可的松(剂量浓度0 ~ 1000ng /ml)治疗妊娠早期RM患者培养的细胞滋养细胞。采用半定量和定量实时聚合酶链反应(RT-PCR)检测HLA-G基因转录,采用特异性酶联免疫吸附试验(ELISA)、流式细胞术和western blot检测蛋白表达。通过PCR和/或序列分型检测HLA-G多态性。与对照组相比,从RM患者获得的未经处理的滋养细胞中观察到低水平的HLA-G。经糖皮质激素处理后,这些细胞中HLA-G的表达呈剂量依赖性上调(P < 0.05),但细胞增殖和活力未发生变化。RM患者与对照组HLA-G多态性无显著相关性。HLA-G在RM患者培养的滋养细胞中表达最低。它可以在暴露于地塞米松和氢化可的松时上调。糖皮质激素在体外具有调节HLA-G表达的潜力,可以进一步研究其在RM中的治疗适用性。
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引用次数: 35
High resolution analysis of renal allograft rejection: HLA class I specific antibodies 肾移植排斥反应的高分辨率分析:HLA I类特异性抗体
Pub Date : 2011-05-01 DOI: 10.1111/J.1399-0039.2011.01671.X
R. Vaughan, P. Mobillo, R. Collins, J. Theron, Emma Lougee, M. H. Fuentes, O. Shaw, I. Rebollo-Mesa
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引用次数: 1
Full length sequence of a novel HLA-B*132202 allele. HLA-B*132202等位基因的全序列分析。
Pub Date : 2009-11-01 Epub Date: 2009-09-02 DOI: 10.1111/j.1399-0039.2009.01355.x
H-Y Zou, L-H Cheng, Z Li, S-Z Jin

Full length sequences of this novel HLA-B*132202 allele are identical to those of HLA-B*132201 allele, except for a synonymous amino acid substitution from ACG to ACC at codon 138 in exon 3.

该新型HLA-B*132202等位基因的全长序列与HLA-B*132201等位基因的全长序列完全相同,除了在第3外显子密码子138处由ACG替换为ACC的同源氨基酸。
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引用次数: 3
Full-length sequence of a novel allele, HLA-Cw*070205. 新等位基因HLA-Cw*070205的全序列分析。
Pub Date : 2009-11-01 Epub Date: 2009-09-08 DOI: 10.1111/j.1399-0039.2009.01349.x
H-Y Zou, S-Z Jin, Z Li, L-H Cheng

The full-length sequences of exons 1-8 of this novel HLA-Cw*070205 allele are identical to those of HLA-Cw*07020101, except for one nucleotide change at nt 498 in exon 3 from C to T, which result in a synonymous amino acid substitution from ATC to ATT at codon 142 in exon 3.

新型HLA-Cw*070205外显子1-8全长序列与HLA-Cw*07020101全长序列相同,但在第3外显子第3外显子第142个密码子上,除第3外显子第498个核苷酸由C变为T,导致第3外显子第142个密码子由ATC变为ATT的同义氨基酸替换。
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引用次数: 4
Fine mapping of the CELIAC2 locus on chromosome 5q31-q33 in the Finnish and Hungarian populations. 芬兰和匈牙利人群染色体5q31-q33上CELIAC2位点的精细定位。
Pub Date : 2009-11-01 DOI: 10.1111/j.1399-0039.2009.01359.x
L L E Koskinen, E Einarsdottir, I R Korponay-Szabo, K Kurppa, K Kaukinen, P Sistonen, Z Pocsai, G Széles, R Adány, M Mäki, J Kere, P Saavalainen

Celiac disease is a chronic inflammation of the small intestine, arising in genetically predisposed individuals as a result of ingestion of dietary gluten. The only confirmed and functionally characterised genetic risk factors for celiac disease are the DQ2 or DQ8 heterodimers at the major histocompatibility complex (MHC) class II locus (CELIAC1). These genes are necessary but alone not sufficient for disease onset. Genome-wide linkage scans have suggested chromosome 5q31-q33 (CELIAC2) as an important risk locus for celiac disease. This region has also been associated to other inflammatory disorders, although as yet, no clear gene associations have been found. In the current study, 11 celiac disease candidate loci were screened for genetic linkage in the Hungarian population. As the CELIAC2 locus showed the strongest evidence for linkage, this locus was selected for follow-up. Seventeen candidate genes were selected from the CELIAC2 locus, and genotyped using 48 haplotype tagging single nucleotide polymorphisms (SNPs) in large Finnish and Hungarian family materials. A subset of these, 40 tagging SNPs in 15 genes, were genotyped in an independent set of Finnish and Hungarian cases and controls. We confirmed linkage of this region with celiac disease and report strong linkage in both the Finnish and Hungarian populations. The association analysis showed modest associations throughout the whole region. These association findings were not replicated in the case-control datasets. Our study strongly supports the role of the CELIAC2 locus in celiac disease, but it also highlights the need for a more powerful study design in the region, to locate the true disease risk variants.

乳糜泻是小肠的一种慢性炎症,在遗传易感的个体中由于摄入饮食中的麸质而引起。乳糜泻的唯一确认和功能特征的遗传危险因素是主要组织相容性复合体(MHC) II类位点(CELIAC1)上的DQ2或DQ8异源二聚体。这些基因对疾病的发生是必要的,但单独是不够的。全基因组连锁扫描提示染色体5q31-q33 (CELIAC2)是乳糜泻的重要危险位点。该区域也与其他炎症性疾病有关,尽管目前还没有发现明确的基因关联。在目前的研究中,在匈牙利人群中筛选了11个乳糜泻候选基因座进行遗传连锁。由于CELIAC2位点显示出最强的连锁证据,因此选择该位点进行随访。从CELIAC2位点中选择了17个候选基因,并使用芬兰和匈牙利大家族材料中的48个单倍型标记单核苷酸多态性(snp)进行基因分型。其中的一个子集,在15个基因中标记了40个snp,在芬兰和匈牙利的一组独立病例和对照中进行了基因分型。我们证实了该地区与乳糜泻的联系,并报告了芬兰和匈牙利人群的强烈联系。关联分析显示,整个地区存在适度关联。这些关联发现在病例对照数据集中没有得到重复。我们的研究强烈支持CELIAC2基因座在乳糜泻中的作用,但它也强调需要在该区域进行更强大的研究设计,以定位真正的疾病风险变异。
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引用次数: 15
A novel HLA-B*54 allele, B*5417, identified in a Northern Chinese Han individual. 一种新的HLA-B*54等位基因B*5417在中国北方汉族个体中得到鉴定。
Pub Date : 2009-11-01 DOI: 10.1111/j.1399-0039.2009.01341.x
L-H Cheng, W-G Zhu, Y-X Lan, H-Y Zou, Z Li, S-Z Jin

The full-length sequence of HLA-B*5417 differs from HLA-B*5401 only by single-nucleotide change at nt 709 where A-->C resulting in a amino acid substitution from Ile (ATC) to Val (GTC) at codon 213 in exon 4.

HLA-B*5417与HLA-B*5401全长序列的差异仅在于nt 709的单核苷酸变化,其中A- >C导致4外显子213密码子上的氨基酸从Ile (ATC)替换为Val (GTC)。
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引用次数: 3
A novel HLA-B allele, B*4096 was identified by sequence-based typing in a Chinese individual. 利用序列分型方法,在中国人中鉴定出一种新的HLA-B等位基因B*4096。
Pub Date : 2009-11-01 DOI: 10.1111/j.1399-0039.2009.01339.x
Y Zhang, H-X Lu, Y Liu, C-F Zhu

A novel HLA-B allele, B*4096, has been identified in a Chinese individual by sequence-based typing, which has seven nucleotide changes from the closest matching allele B*40060101 resulting in five amino acid changes: 101Ser-->Asn; 104Ser-->Thr; 105Leu-->Ala; 106Arg--> Leu and 107Gly-->Arg.

通过序列分型,在一名中国人中发现了一种新的HLA-B等位基因B*4096,该等位基因与最接近的等位基因B*40060101发生了7个核苷酸变化,导致5个氨基酸变化:101Ser- >Asn;104对丝氨酸- >苏氨酸;105年低浓缩铀——阿拉巴马州>;106Arg- > Leu和107Gly- >Arg。
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引用次数: 4
Full length sequence of a novel HLA-B*3818 allele differs from HLA-B*380201 allele in exon 4 and intron 5. 新的HLA-B*3818等位基因与HLA-B*380201等位基因在外显子4和内含子5上的全长序列不同。
Pub Date : 2009-11-01 Epub Date: 2009-09-18 DOI: 10.1111/j.1399-0039.2009.01351.x
L-H Cheng, W-G Zhu, Y-X Lan, S-Z Jin, H-Y Zou

The full length sequence of HLA-B*3818 differs from HLA-B*380201 at nt 660 in exon 4 (C-->A) and genomic position 2133 in intron 5 (A-->C).

HLA-B*3818与HLA-B*380201全长序列在第4外显子660位(C- >A)和第5内含子2133位(A- >C)不同。
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引用次数: 17
期刊
Tissue antigens
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