Literature DB >> 24046467

Protective effect of an ERAP1 haplotype in ankylosing spondylitis: investigating non-MHC genes in HLA-B27-positive individuals.

Bruno Filipe Bettencourt1, Fabiana Leal Rocha, Helena Alves, Rosa Amorim, Joana Caetano-Lopes, Elsa Vieira-Sousa, Fernando Pimentel-Santos, Manuela Lima, Graça Porto, Jaime C Branco, João Eurico Fonseca, Jácome Bruges-Armas.   

Abstract

OBJECTIVE: The association of non-MHC genes with AS has been recently suggested. We aimed to investigate the association of the ERAP1, IL23R and TNFSF15 regions and the susceptibility to and protection from AS in HLA-B27-positive individuals.
METHODS: A total of 200 unrelated AS patients and 559 healthy unrelated subjects, all HLA-B27 positive, were tested. Twenty single nucleotide polymorphisms (SNPs) were investigated in and near IL23R (nine SNPs), in ERAP1 (five SNPs) and in TNFSF15 (six SNPs).
RESULTS: ERAP1 rs30187 [odds ratio (OR) = 1.5, P = 4.7 × 10(-3)] had the strongest association with AS susceptibility. A protective effect was found in three of the ERAP1 SNPs: rs17482078 (OR = 0.7, P = 2.8 × 10(-2)), rs10050860 (OR = 0.7, P = 2.3 × 10(-2)), rs2287987 (OR = 0.6, P = 1.3 × 10(-2)). The ERAP1 haplotype rs17482078/rs10050860/rs30187/rs2287987-CCTT showed an association with AS susceptibility (P = 6.8 × 10(-3)) and a protective effect was identified in rs17482078/rs10050860/rs30187/rs2287987-TTCC (P = 3.1 × 10(-2)). Significant association with AS susceptibility was found in one IL23R marker (rs1004819, P = 4.3 × 10(-2), OR = 1.3). No associations were observed in the TNFSF15 region.
CONCLUSION: The identification of a new protection haplotype in ERAP1 and the lack of association of the TNFSF15 region can provide new insights into the understanding of the mechanisms underlying the susceptibility to and protection from AS.

Entities:  

Keywords:  ERAP1; IL23R; TNFSF15; ankylosing spondylitis; protection haplotype

Mesh:

Substances:

Year:  2013        PMID: 24046467     DOI: 10.1093/rheumatology/ket269

Source DB:  PubMed          Journal:  Rheumatology (Oxford)        ISSN: 1462-0324            Impact factor:   7.580


  14 in total

1.  Red blood cell distribution width: a potential maker estimating disease activity of ankylosing spondylitis.

Authors:  You-Fan Peng; Qiong Zhang; Ling Cao; Yang Liu; Dan Chen; Yu-Kun Sun; Zhao-Xia Zhang
Journal:  Int J Clin Exp Med       Date:  2014-12-15

Review 2.  Stress proteins in the pathogenesis of spondyloarthritis.

Authors:  José Pablo Romero-López; María Lilia Domínguez-López; Rubén Burgos-Vargas; Ethel García-Latorre
Journal:  Rheumatol Int       Date:  2018-05-31       Impact factor: 2.631

Review 3.  Associations between ERAP1 polymorphisms and susceptibility to ankylosing spondylitis: a meta-analysis.

Authors:  Young Ho Lee; Gwan Gyu Song
Journal:  Clin Rheumatol       Date:  2016-04-25       Impact factor: 2.980

Review 4.  Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics.

Authors:  Michael J Ombrello; Daniel L Kastner; Elaine F Remmers
Journal:  Curr Opin Rheumatol       Date:  2015-07       Impact factor: 5.006

5.  ERAP1 rs30187 single nucleotide polymorphism does not confer disease susceptibility in North Indian children with enthesitis-related arthritis.

Authors:  Rajni Srivastava; Sanat Phatak; Amita Aggarwal
Journal:  Clin Rheumatol       Date:  2017-02-04       Impact factor: 2.980

6.  Serum prolidase level in ankylosing spondylitis: low serum levels as a new potential gold standard biomarker for disease activity.

Authors:  Sevgi Baspinar; Mehmet Kırnap; Osman Baspınar; Oguzhan Sıtkı Dizdar; Derya Kocer
Journal:  Rheumatol Int       Date:  2016-07-21       Impact factor: 2.631

7.  A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for Behçet's disease in HLA-B*51 carriers.

Authors:  Masaki Takeuchi; Michael J Ombrello; Yohei Kirino; Burak Erer; Ilknur Tugal-Tutkun; Emire Seyahi; Yilmaz Özyazgan; Norman R Watts; Ahmet Gül; Daniel L Kastner; Elaine F Remmers
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8.  Global Proteomic Analyses Reveals Abnormal Immune Regulation in Patients With New Onset Ankylosing Spondylitis.

Authors:  Zongchao Yu; Xiaoping Hong; Xiaoli Zhang; Fengping Zheng; Fanna Liu; Huixuan Xu; Chengxin Zhu; Wanxia Cai; Dongzhou Liu; Lianghong Yin; Bo Hu; Donge Tang; Yong Dai
Journal:  Front Immunol       Date:  2022-03-17       Impact factor: 7.561

9.  Epistatic interaction of ERAP1 and HLA-B in Behçet disease: a replication study in the Spanish population.

Authors:  Marta Conde-Jaldón; Marco Antonio Montes-Cano; José Raul García-Lozano; Lourdes Ortiz-Fernández; Norberto Ortego-Centeno; Rocío González-León; Gerard Espinosa; Genaro Graña-Gil; Juan Sánchez-Bursón; Miguel Angel González-Gay; Ana Celia Barnosi-Marín; Roser Solans; Patricia Fanlo; Mónica Rodríguez Carballeira; Teresa Camps; Santos Castañeda; Javier Martín; María Francisca González-Escribano
Journal:  PLoS One       Date:  2014-07-14       Impact factor: 3.240

10.  Non-classical human leucocyte antigens in ankylosing spondylitis: possible association with HLA-E and HLA-F.

Authors:  Margarida Rodrigues Santos; Ana Rita Couto; Iris Foroni; Bruno Filipe Bettencourt; Zhixiu Li; Raquel Meneses; Lawrie Wheeler; Joaquim Pereira; Fernando Pimentel-Santos; João Eurico Fonseca; Helena Alves; António Martinho; Manuela Lima; Matthew A Brown; Jácome Bruges-Armas
Journal:  RMD Open       Date:  2018-06-28
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