Journal ArticleDOI
Predominant association of HLA-B*2704 with ankylosing spondylitis in Chinese Han patients.
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TLDR
Wang et al. as discussed by the authors investigated the association of B27-subtypes with ankylosing spondylitis (AS) in the Mainland Chinese Han population, where a total of unrelated 153 patients with AS were enrolled in a large case-control association study and 1545 unrelated, healthy, ethnically matched blood donors were included as controls.Abstract:
The HLA-B27 subtypes have a varied racial and ethnic prevalence throughout the world. However, the association of B27-subtypes with ankylosing spondylitis (AS) in the mainland China is unknown. To determine the association of B27-subtypes with AS in the Mainland Chinese Han population, a total of unrelated 153 patients with AS were enrolled in a large case-control association study, and 1545 unrelated, healthy, ethnically matched blood donors were included as controls. The genotyping of B27 and its subtypes was performed using the polymerase chain reaction with sequence specific primers (PCR-SSP). A total of 130 (84.97%) AS patients and 61 (3.95%) healthy controls were B27 positive. Three B27-subtypes, B*2704, B*2705 and B*2710, were further identified, of which both B*2704 and B*2705 were strongly AS associated. B*2710 was only detected in one AS patient and two other healthy controls. Considering only B27-positive cases and controls, a statistically different frequency of B27-subtypes was observed, with an over-representation of B*2704 (P = 0.018). B*2704 was clearly more strongly associated than B*2705 with AS [odds ratio (OR) = 2.4, P = 0.011]. Furthermore, a combined analysis including three previous studies of B27-subtype distributions in Chinese AS cases confirmed the stronger association of B*2704 with AS than B*2705 (OR = 2.5, P = 0.00094).read more
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Journal ArticleDOI
Genetics and genomics of ankylosing spondylitis
TL;DR: The mechanism by which the main gene for the disease, HLA-B27, leads to ankylosing spondylitis (AS) is unknown as mentioned in this paper, but it has been shown that there is a strong genetic overlap between AS and Crohn's disease in particular, although there are also major differences in the genes involved in the two conditions.
Journal ArticleDOI
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis
Zhiming Lin,Jin-Xin Bei,Meixin Shen,Qiuxia Li,Zetao Liao,Yanli Zhang,Qing Lv,Qiujing Wei,Hui Qi Low,Yun Miao Guo,Shuangyan Cao,Mingcan Yang,Zaiying Hu,Manlong Xu,Xinwei Wang,Yanlin Wei,Li Li,Chao Li,Tianwang Li,Jianlin Huang,Yunfeng Pan,Ou Jin,Yuqiong Wu,Jing Wu,Zishi Guo,Peigen He,Shaoxian Hu,Husheng Wu,Hui Song,Feng Zhan,Shengyun Liu,Guanmin Gao,Zhangsuo Liu,Yinong Li,Changhong Xiao,Juan Li,Zhi-Zhong Ye,Weizhen He,Dongzhou Liu,Lingxun Shen,Anbin Huang,Henglian Wu,Yi Tao,Xieping Pan,Buyun Yu,E. Shyong Tai,Yi Xin Zeng,Ee Chee Ren,Ee Chee Ren,Yan Shen,Jianjun Liu,Jianjun Liu,Jieruo Gu +52 more
TL;DR: Two newly discovered loci implicate genes related to bone formation and cartilage development, suggesting their potential involvement in the etiology of ankylosing spondylitis.
Journal ArticleDOI
Association of STAT3 and TNFRSF1A with ankylosing spondylitis in Han Chinese
Stuart I. Davidson,Yu Liu,Patrick Danoy,Xin Wu,Gethin P. Thomas,Lei Jiang,L. Sun,Niansong Wang,Jun Han,Huanxing Han,Peter M. Visscher,Matthew A. Brown,Huji Xu +12 more
TL;DR: This study demonstrates for the first time that genetic polymorphisms in STAT3, TNFRSF1A and 2p15 are associated with AS in Han Chinese, suggesting common pathogenic mechanisms for the disease in Chinese and Caucasian European populations.
Journal ArticleDOI
Polymorphism of HLA-B27: 105 Subtypes Currently Known
TL;DR: After 40 years, after studying hemodynamic features of its protein structure, alterations of its peptidome, aberrant peptide handling, and associated molecular events, it is still not fully known how HLA-B27 predisposes to ankylosing spondylitis and related spONDyloarthritis.
Journal ArticleDOI
Endoplasmic reticulum aminopeptidase-1 alleles associated with increased risk of ankylosing spondylitis reduce HLA-B27 mediated presentation of multiple antigens.
Sergey S. Seregin,David P W Rastall,Irini Evnouchidou,Charles F. Aylsworth,Dionisia Quiroga,Ram P. Kamal,Sarah Godbehere-Roosa,Christopher F. Blum,Ian A. York,Efstratios Stratikos,Andrea Amalfitano +10 more
TL;DR: Findings suggest that one mechanism underlying AS pathogenesis may involve an altered ability for AS patients harboring both HLA-B27 and high AS risk ERAP1 alleles to correctly display a variety of peptides to the adaptive arm of the immune system, potentially exposing such individuals to higher AS risk due to abnormal display of pathogen or self-derived peptides by the adaptive immune system.
References
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Journal ArticleDOI
Phototyping: comprehensive DNA typing for HLA-A, B, C, DRB1, DRB3, DRB4, DRB5 & DQB1 by PCR with 144 primer mixes utilizing sequence-specific primers (PCR-SSP)
Michael Bunce,C. M. O'Neill,Martin Barnardo,P. Krausa,M. J. Browning,Peter J. Morris,Kenneth I. Welsh +6 more
TL;DR: The Phototyping set has been used as the sole method of HLA typing for over 1010 individuals and has capacity to detect new alleles, for example, novel amplification patterns suggestive of 4 new HLA-B alleles have been detected.
Journal ArticleDOI
HLA-B27 polymorphism and worldwide susceptibility to ankylosing spondylitis
Severino Gonzalez-Roces,M. V. Alvarez,Segundo Gonzalez,A. Dieye,H. Makni,D. G. Woodfield,L. Housan,V. Konenkov,M. C. Abbadi,N. Grunnet,Eliecer Coto,Carlos López-Larrea +11 more
TL;DR: The distribution of B27 subtypes by PCR/SSOP and genomic sequencing in a large group of populations and two patients from northern China carrying B*2706 are identified, indicating that more than one pathogenic agent can be involved in AS.
Journal ArticleDOI
A genome-wide screen for susceptibility loci in ankylosing spondylitis
Matthew A. Brown,K D Pile,L. G. Kennedy,Danielle Campbell,Lee K. Andrew,Ruth March,J Shatford,De Weeks,Andrei Calin,B P Wordsworth +9 more
TL;DR: In this paper, a genome-wide linkage screen was performed using 254 highly polymorphic microsatellite markers from the Medical Research Council (UK) (MRC) set to localize the regions containing genes that determine susceptibility to ankylosing spondylitis (AS).
Journal ArticleDOI
The pathogenetic role of HLA-B27 and its subtypes
TL;DR: Structural and functional studies of HLA-B27 allele products at molecular level have provided information of broad and multidisciplinary value and disclosed new avenues leading to autoimmunity and immune disregulation.
Journal ArticleDOI
Possible protective role of HLA-B*2706 for ankylosing spondylitis
TL;DR: It is found that the B*2706 allele has a significant negative association with disease (p = 0.047) and this data shows that the HLA molecule itself plays a crucial role in disease development.
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