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Epistatic Interaction of ERAP1 and HLA-B51 in Iranian Patients with Behçet’s Disease
by
Saeideh Jafarinejad-Farsangi
, Fereydoun Davatchi
, Mahdi Mahmoudi
, Amir Ashraf-Ganjouei
, Hoda Kavosi
, Nooshin Ahmadzadeh
, Nobuhisa Mizuki
, Shayan Mostafaei
, Ali Javinani
, Seyedeh Tahereh Faezi
, Akira Meguro
, Farhad Shahram
, Maassoumeh Akhlaghi
in
45/41
/ 45/77
/ 631/208
/ 631/250
/ Adolescent
/ Adult
/ Aged
/ Alleles
/ Aminopeptidase
/ Aminopeptidases
/ Behcet Syndrome
/ Child
/ Child, Preschool
/ Endoplasmic reticulum
/ Environmental factors
/ Epistasis
/ Epistasis, Genetic
/ Female
/ Genetic Predisposition to Disease
/ Genotype & phenotype
/ Histocompatibility antigen HLA
/ HLA-B27 Antigen
/ Humanities and Social Sciences
/ Humans
/ Infant
/ Infant, Newborn
/ Iran
/ Male
/ Middle Aged
/ Minor Histocompatibility Antigens
/ multidisciplinary
/ Phenotypes
/ Polymorphism, Single Nucleotide
/ Science
/ Science (multidisciplinary)
/ Single-nucleotide polymorphism
/ Vein & artery diseases
/ Young Adult
2018
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Epistatic Interaction of ERAP1 and HLA-B51 in Iranian Patients with Behçet’s Disease
by
Saeideh Jafarinejad-Farsangi
, Fereydoun Davatchi
, Mahdi Mahmoudi
, Amir Ashraf-Ganjouei
, Hoda Kavosi
, Nooshin Ahmadzadeh
, Nobuhisa Mizuki
, Shayan Mostafaei
, Ali Javinani
, Seyedeh Tahereh Faezi
, Akira Meguro
, Farhad Shahram
, Maassoumeh Akhlaghi
in
45/41
/ 45/77
/ 631/208
/ 631/250
/ Adolescent
/ Adult
/ Aged
/ Alleles
/ Aminopeptidase
/ Aminopeptidases
/ Behcet Syndrome
/ Child
/ Child, Preschool
/ Endoplasmic reticulum
/ Environmental factors
/ Epistasis
/ Epistasis, Genetic
/ Female
/ Genetic Predisposition to Disease
/ Genotype & phenotype
/ Histocompatibility antigen HLA
/ HLA-B27 Antigen
/ Humanities and Social Sciences
/ Humans
/ Infant
/ Infant, Newborn
/ Iran
/ Male
/ Middle Aged
/ Minor Histocompatibility Antigens
/ multidisciplinary
/ Phenotypes
/ Polymorphism, Single Nucleotide
/ Science
/ Science (multidisciplinary)
/ Single-nucleotide polymorphism
/ Vein & artery diseases
/ Young Adult
2018
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Epistatic Interaction of ERAP1 and HLA-B51 in Iranian Patients with Behçet’s Disease
by
Saeideh Jafarinejad-Farsangi
, Fereydoun Davatchi
, Mahdi Mahmoudi
, Amir Ashraf-Ganjouei
, Hoda Kavosi
, Nooshin Ahmadzadeh
, Nobuhisa Mizuki
, Shayan Mostafaei
, Ali Javinani
, Seyedeh Tahereh Faezi
, Akira Meguro
, Farhad Shahram
, Maassoumeh Akhlaghi
in
45/41
/ 45/77
/ 631/208
/ 631/250
/ Adolescent
/ Adult
/ Aged
/ Alleles
/ Aminopeptidase
/ Aminopeptidases
/ Behcet Syndrome
/ Child
/ Child, Preschool
/ Endoplasmic reticulum
/ Environmental factors
/ Epistasis
/ Epistasis, Genetic
/ Female
/ Genetic Predisposition to Disease
/ Genotype & phenotype
/ Histocompatibility antigen HLA
/ HLA-B27 Antigen
/ Humanities and Social Sciences
/ Humans
/ Infant
/ Infant, Newborn
/ Iran
/ Male
/ Middle Aged
/ Minor Histocompatibility Antigens
/ multidisciplinary
/ Phenotypes
/ Polymorphism, Single Nucleotide
/ Science
/ Science (multidisciplinary)
/ Single-nucleotide polymorphism
/ Vein & artery diseases
/ Young Adult
2018
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Epistatic Interaction of ERAP1 and HLA-B51 in Iranian Patients with Behçet’s Disease
Journal Article
Epistatic Interaction of ERAP1 and HLA-B51 in Iranian Patients with Behçet’s Disease
2018
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Overview
Behçet’s Disease (BD) pathogenesis remains unclear, but some genetic loci and environmental factors are proposed to play a role. Here, we investigate the association of the endoplasmic reticulum aminopeptidase-1 (
ERAP1
) gene variants and
HLA-B*51
with BD susceptibility and clinical manifestations in Iranian patients. In the study, 748 BD patients and 776 healthy individuals were included. The MGB-TaqMan Allelic Discrimination method was used to genotype 10 common missense single nucleotide polymorphisms (SNPs) and one intronic SNP in the
ERAP1
gene region. We found no significant association between the 11 SNPs and BD in allelic and genotypic association tests. However, rs30187 showed the strongest association with BD in the recessive genotype model of the risk T allele in
HLA-B*51
carriers. Although this became insignificant after correcting for multiple comparisons, the homozygous rs30187 risk allele genotype (TT) increased disease susceptibility in
HLA-B*51
carriers in epistasis analysis, and the rs30187 TT recessive genotype showed a significant association with risk of cardiac involvement in the all patients and articular involvements in
HLA-B*51
positive patients. Our findings suggest that gene-gene interactions between
HLA-B*51
and
ERAP1
variants is important for BD development, however,
ERAP1
variants which interact with
HLA-B*51
may differ among disease phenotypes or populations.
Publisher
Springer Science and Business Media LLC,Nature Publishing Group UK,Nature Publishing Group
Subject
/ 45/77
/ 631/208
/ 631/250
/ Adult
/ Aged
/ Alleles
/ Child
/ Female
/ Genetic Predisposition to Disease
/ Histocompatibility antigen HLA
/ Humanities and Social Sciences
/ Humans
/ Infant
/ Iran
/ Male
/ Minor Histocompatibility Antigens
/ Polymorphism, Single Nucleotide
/ Science
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