PMID- 30412714
OWN - NLM
STAT- MEDLINE
DCOM- 20190730
LR  - 20190730
IS  - 1879-0542 (Electronic)
IS  - 0165-2478 (Linking)
VI  - 201
DP  - 2018 Sep
TI  - Association analysis of ERAP1 gene single nucleotide polymorphism in 
      susceptibility to ankylosing spondylitis in Iranian population.
PG  - 52-58
LID - S0165-2478(18)30294-3 [pii]
LID - 10.1016/j.imlet.2018.11.002 [doi]
AB  - Background Ankylosing spondylitis (AS) is a debilitating spondyloarthropathy that 
      has been associated with variation in several genes. Human leukocyte antigen 
      (HLA)-B27 constructs an impaired structure, culminating in recognition and 
      activation of immune system. Impaired function of Endoplasmic reticulum 
      aminopeptidase (ERAP) 1, which primes peptides to be loaded in HLA molecules, has 
      strongly been associated with AS proneness. Here, we intended to investigate the 
      possible association of ERAP1 gene single nucleotide polymorphisms (SNPs) with AS 
      susceptibility in Iranian patients. Methods Two-hundred and twenty AS patients 
      and 220 healthy controls were enrolled in this study. DNA was extracted from 
      blood samples and then was genotyped for rs27044, rs17482078, and rs10050860 
      polymorphism by SSP-PCR approach. Results It was seen that G allele and GG 
      genotype of rs27044 SNP significantly increased the risk of AS that was even 
      stronger in HLA-B27 positive patients. Moreover, the T allele and TT genotype of 
      rs10050860 polymorphism were associated with increased risk of the disease in 
      both all and HLA-B27 positive AS group. Two haplotypes were associated with the 
      risk of AS and there was linkage disequilibrium between SNPs. Two SNPs were 
      associated with clinicopathological manifestations of AS subjects. Conclusions 
      This association study replicated the role ofERAP1 gene polymorphisms with the 
      risk of AS in an Iranian population.
CI  - Copyright (c) 2018 European Federation of Immunological Societies. Published by 
      Elsevier B.V. All rights reserved.
FAU - Babaie, Farhad
AU  - Babaie F
AD  - Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran; 
      Connective Tissue Diseases Research Center, Tabriz University of Medical 
      Sciences, Tabriz, Iran; Cellular and Molecular Research Center, Urmia University 
      of Medical Sciences, Urmia, Iran.
FAU - Ebrazeh, Mehrdad
AU  - Ebrazeh M
AD  - Department of Laboratory Medicine, Shahid Motahari Hospital, Urmia University of 
      Medical Sciences, Urmia, Iran.
FAU - Hemmatzadeh, Maryam
AU  - Hemmatzadeh M
AD  - Department of Immunology, School of Medicine, Tabriz University of Medical 
      Sciences, Tabriz, Iran; Student Research Committee, Tabriz University of Medical 
      Sciences, Tabriz, Iran.
FAU - Sadat Mohammadi, Fatemeh
AU  - Sadat Mohammadi F
AD  - Immunology Research Center, Inflammation and Inflammatory Diseases Division, 
      Medical School, Mashhad University of Medical Sciences, Mashhad, Iran.
FAU - Gowhari Shabgah, Arezoo
AU  - Gowhari Shabgah A
AD  - Immunology Research Center, Mashhad University of Medical Sciences, Mashhad, 
      Iran.
FAU - Hajaliloo, Mehrzad
AU  - Hajaliloo M
AD  - Connective Tissue Diseases Research Center, Tabriz University of Medical 
      Sciences, Tabriz, Iran.
FAU - Ebrahimi, Ali Asghar
AU  - Ebrahimi AA
AD  - Connective Tissue Diseases Research Center, Tabriz University of Medical 
      Sciences, Tabriz, Iran.
FAU - Shirafkan, Naghmeh
AU  - Shirafkan N
AD  - Department of Immunology, School of Medicine, Tabriz University of Medical 
      Sciences, Tabriz, Iran.
FAU - Azizi, Gholamreza
AU  - Azizi G
AD  - Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, 
      Karaj, Iran; Department of Immunology, School of Medicine, Alborz University of 
      Medical Sciences, Karaj, Iran.
FAU - Mohammadi, Hamed
AU  - Mohammadi H
AD  - Department of Immunology, School of Medicine, Tabriz University of Medical 
      Sciences, Tabriz, Iran. Electronic address: mohamadi.h86@gmail.com.
FAU - Babaloo, Zohreh
AU  - Babaloo Z
AD  - Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran; 
      Connective Tissue Diseases Research Center, Tabriz University of Medical 
      Sciences, Tabriz, Iran; Department of Immunology, School of Medicine, Tabriz 
      University of Medical Sciences, Tabriz, Iran. Electronic address: 
      zbabaloo@tbzmed.ac.ir.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20181106
PL  - Netherlands
TA  - Immunol Lett
JT  - Immunology letters
JID - 7910006
RN  - 0 (HLA-B27 Antigen)
RN  - 0 (Minor Histocompatibility Antigens)
RN  - EC 3.4.11.- (Aminopeptidases)
RN  - EC 3.4.11.- (ERAP1 protein, human)
MH  - Adult
MH  - Aminopeptidases/*genetics
MH  - Case-Control Studies
MH  - Female
MH  - Gene Frequency
MH  - Genetic Association Studies
MH  - Genetic Predisposition to Disease
MH  - *Genotype
MH  - HLA-B27 Antigen/genetics
MH  - Humans
MH  - Iran
MH  - Male
MH  - Middle Aged
MH  - Minor Histocompatibility Antigens/*genetics
MH  - Polymorphism, Single Nucleotide
MH  - Spondylitis, Ankylosing/*genetics
OTO - NOTNLM
OT  - Ankylosing spondylitis
OT  - Endoplasmic reticulum aminopeptidase
OT  - Human leukocyte antigen-B27
OT  - Single nucleotide polymorphisms
EDAT- 2018/11/10 06:00
MHDA- 2019/07/31 06:00
CRDT- 2018/11/10 06:00
PHST- 2018/06/14 00:00 [received]
PHST- 2018/10/26 00:00 [revised]
PHST- 2018/11/05 00:00 [accepted]
PHST- 2018/11/10 06:00 [pubmed]
PHST- 2019/07/31 06:00 [medline]
PHST- 2018/11/10 06:00 [entrez]
AID - S0165-2478(18)30294-3 [pii]
AID - 10.1016/j.imlet.2018.11.002 [doi]
PST - ppublish
SO  - Immunol Lett. 2018 Sep;201:52-58. doi: 10.1016/j.imlet.2018.11.002. Epub 2018 Nov 
      6.