Role of endoplasmic reticulum aminopeptidase-1 gene polymorphism (rs13167972) in occurrence susceptibility of ankylosing spondylitis in a sample of Iraqi male patients
Background Ankylosing spondylitis (AS) is a chronic and systemic seronegative inflammatory spondyloarthropathy, an autoimmune disease that has been associated with impaired Endoplasmic Reticulum Aminopeptidase (ERAP)-1 activity, which is involved in priming antigenic peptides. The purpose of this st...
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| creator | Hassan, Sumyah Hussein Auda, Ibtesam Ghadban Ali, Ekhlass N. Alosami, Mohammed Hadi Hussein, Ranya H. |
| description | Background
Ankylosing spondylitis (AS) is a chronic and systemic seronegative inflammatory spondyloarthropathy, an autoimmune disease that has been associated with impaired Endoplasmic Reticulum Aminopeptidase (ERAP)-1 activity, which is involved in priming antigenic peptides. The purpose of this study is to investigate the association of
3
-UTR of
ERAP1
gene polymorphism (rs13167972) with the AS occurrence susceptibility in a sample of Iraqi male patients.
Methods
The AS patients were diagnosed clinically and by magnetic resonance imaging (MRI) and other clinical and laboratory criteria like symptoms, increased C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR). The blood grouping and Body Mass Index (BMI) were also investigated to be associated with AS occurrence. The genotyping of the
3−
UTR region of the
ERAP1
gene (rs13167972) was done by Sanger sequencing.
Results
The results revealed that the AS occurred significantly in the age group of 20–35 years (p = 0.013). The BMI shows that the AS patients were overweighted males (p = 0.013) and the most predominant blood group in AS patients was O- (p = 0.002). The ESR and serum level of CRP were significantly raised in AS patient sera ( |
| doi_str_mv | 10.1007/s11033-024-09438-0 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_3153607037</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>3153607037</sourcerecordid><originalsourceid>FETCH-LOGICAL-c359t-2689c72de0d5ac1771e78df5f51fb10d031e8a97cd0b7d9203a7b2915e3844323</originalsourceid><addsrcrecordid>eNqFkc-K1jAUxYMozjefvoALCbgZF9WbpGnapQzqDAwIouuSJulnxubPJO2iT-RrTmpHBRe6CuH-zrn3cBB6QeANARBvMyHAWAW0rqCrWVvBI3QgXLCq7kT7GB2AAanqlpMzdJ7zLQDURPCn6Iy1nBMhugP68TlMBocRG69DnGR2VuFkZquWaXFYOutDNHG2WmZTEXwy3uAYptWFFL_Z7PBFyoSRRnSCvsbW46DUkpLxyuC8ZLVpBzvZed22SP99nUK2_oRzDF6vZWDzJpM4Sxf3W66TvLPYyfKLcrbGz_kZejLKKZvnD-8Rff3w_svlVXXz6eP15bubSjHezRVt2k4Jqg1oLlWJSIxo9chHTsaBgAZGTCs7oTQMQncUmBQD7Qg3rK1rRtkRXey-MYW7xeS5d7aEmCbpTVhyzwhnDQhg4v8oUFrKaAt8RK_-Qm_DknwJUijCgTeiqQtFd0qlkHMyYx-TdTKtPYF-a7zfG-9L4_3PxvvN-uWD9TI4o39LflVcALYDuYz8yaQ_u_9hew_3r7di</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>3015056764</pqid></control><display><type>article</type><title>Role of endoplasmic reticulum aminopeptidase-1 gene polymorphism (rs13167972) in occurrence susceptibility of ankylosing spondylitis in a sample of Iraqi male patients</title><source>SpringerLink Journals</source><creator>Hassan, Sumyah Hussein ; Auda, Ibtesam Ghadban ; Ali, Ekhlass N. ; Alosami, Mohammed Hadi ; Hussein, Ranya H.</creator><creatorcontrib>Hassan, Sumyah Hussein ; Auda, Ibtesam Ghadban ; Ali, Ekhlass N. ; Alosami, Mohammed Hadi ; Hussein, Ranya H.</creatorcontrib><description>Background
Ankylosing spondylitis (AS) is a chronic and systemic seronegative inflammatory spondyloarthropathy, an autoimmune disease that has been associated with impaired Endoplasmic Reticulum Aminopeptidase (ERAP)-1 activity, which is involved in priming antigenic peptides. The purpose of this study is to investigate the association of
3
-UTR of
ERAP1
gene polymorphism (rs13167972) with the AS occurrence susceptibility in a sample of Iraqi male patients.
Methods
The AS patients were diagnosed clinically and by magnetic resonance imaging (MRI) and other clinical and laboratory criteria like symptoms, increased C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR). The blood grouping and Body Mass Index (BMI) were also investigated to be associated with AS occurrence. The genotyping of the
3−
UTR region of the
ERAP1
gene (rs13167972) was done by Sanger sequencing.
Results
The results revealed that the AS occurred significantly in the age group of 20–35 years (p = 0.013). The BMI shows that the AS patients were overweighted males (p = 0.013) and the most predominant blood group in AS patients was O- (p = 0.002). The ESR and serum level of CRP were significantly raised in AS patient sera (< 0.001). The results of the receiver-operating characteristics curve analysis (ROC) revealed that the CRP (AUC: 0.995, cut-off: 2.48 mg/L, had 95% %sensitivity, 100% specificity, p < 0.001) is more discriminative than BMI (AUC: 0.300, cut-off: 46.91 kg, had 0% sensitivity, 100% specificity, p = 0.001), and ESR (AUC: 0.808, cut-off: 7.50 mm/hr, had 60% sensitivity, 88% specificity, p < 0.001) in distinguishing between AS patients and control group. The genotyping of the
3−
UTR region of
ERAP1
gene (rs13167972) result shows that the AG and GG genotypes are significantly occurring in AS patients (70%, OR: 2.33, 95%CI: 1.02–5.36, p = 0.04). The G allele is significantly occurring in AS patients (47%, OR: 2.07, 95CI%: 1.15–3.71, p = 0.01).
Conclusion
The AS occurred in young overweight males with blood group O-. The AG and GG genotypes are risk factors for AS development while the G allele is a risk factor that increases the chances for disease incidence.</description><identifier>ISSN: 0301-4851</identifier><identifier>EISSN: 1573-4978</identifier><identifier>DOI: 10.1007/s11033-024-09438-0</identifier><identifier>PMID: 38551779</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>3' Untranslated regions ; Alleles ; Aminopeptidase ; aminopeptidases ; Animal Anatomy ; Animal Biochemistry ; Ankylosing spondylitis ; Arthritis ; Autoimmune diseases ; Biomedical and Life Sciences ; Blood group O ; Blood groups ; blood serum ; Body mass index ; C-reactive protein ; disease incidence ; Endoplasmic reticulum ; Erythrocyte sedimentation rate ; Gene polymorphism ; genetic polymorphism ; Genotyping ; Histology ; Life Sciences ; Magnetic resonance imaging ; magnetism ; Males ; Morphology ; Original Article ; overweight ; patients ; peptides ; Polymorphism ; Risk factors ; Spondyloarthropathy</subject><ispartof>Molecular biology reports, 2024-12, Vol.51 (1), p.462-462, Article 462</ispartof><rights>The Author(s), under exclusive licence to Springer Nature B.V. 2024. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.</rights><rights>2024. The Author(s), under exclusive licence to Springer Nature B.V.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c359t-2689c72de0d5ac1771e78df5f51fb10d031e8a97cd0b7d9203a7b2915e3844323</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s11033-024-09438-0$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s11033-024-09438-0$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,41464,42533,51294</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/38551779$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hassan, Sumyah Hussein</creatorcontrib><creatorcontrib>Auda, Ibtesam Ghadban</creatorcontrib><creatorcontrib>Ali, Ekhlass N.</creatorcontrib><creatorcontrib>Alosami, Mohammed Hadi</creatorcontrib><creatorcontrib>Hussein, Ranya H.</creatorcontrib><title>Role of endoplasmic reticulum aminopeptidase-1 gene polymorphism (rs13167972) in occurrence susceptibility of ankylosing spondylitis in a sample of Iraqi male patients</title><title>Molecular biology reports</title><addtitle>Mol Biol Rep</addtitle><addtitle>Mol Biol Rep</addtitle><description>Background
Ankylosing spondylitis (AS) is a chronic and systemic seronegative inflammatory spondyloarthropathy, an autoimmune disease that has been associated with impaired Endoplasmic Reticulum Aminopeptidase (ERAP)-1 activity, which is involved in priming antigenic peptides. The purpose of this study is to investigate the association of
3
-UTR of
ERAP1
gene polymorphism (rs13167972) with the AS occurrence susceptibility in a sample of Iraqi male patients.
Methods
The AS patients were diagnosed clinically and by magnetic resonance imaging (MRI) and other clinical and laboratory criteria like symptoms, increased C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR). The blood grouping and Body Mass Index (BMI) were also investigated to be associated with AS occurrence. The genotyping of the
3−
UTR region of the
ERAP1
gene (rs13167972) was done by Sanger sequencing.
Results
The results revealed that the AS occurred significantly in the age group of 20–35 years (p = 0.013). The BMI shows that the AS patients were overweighted males (p = 0.013) and the most predominant blood group in AS patients was O- (p = 0.002). The ESR and serum level of CRP were significantly raised in AS patient sera (< 0.001). The results of the receiver-operating characteristics curve analysis (ROC) revealed that the CRP (AUC: 0.995, cut-off: 2.48 mg/L, had 95% %sensitivity, 100% specificity, p < 0.001) is more discriminative than BMI (AUC: 0.300, cut-off: 46.91 kg, had 0% sensitivity, 100% specificity, p = 0.001), and ESR (AUC: 0.808, cut-off: 7.50 mm/hr, had 60% sensitivity, 88% specificity, p < 0.001) in distinguishing between AS patients and control group. The genotyping of the
3−
UTR region of
ERAP1
gene (rs13167972) result shows that the AG and GG genotypes are significantly occurring in AS patients (70%, OR: 2.33, 95%CI: 1.02–5.36, p = 0.04). The G allele is significantly occurring in AS patients (47%, OR: 2.07, 95CI%: 1.15–3.71, p = 0.01).
Conclusion
The AS occurred in young overweight males with blood group O-. The AG and GG genotypes are risk factors for AS development while the G allele is a risk factor that increases the chances for disease incidence.</description><subject>3' Untranslated regions</subject><subject>Alleles</subject><subject>Aminopeptidase</subject><subject>aminopeptidases</subject><subject>Animal Anatomy</subject><subject>Animal Biochemistry</subject><subject>Ankylosing spondylitis</subject><subject>Arthritis</subject><subject>Autoimmune diseases</subject><subject>Biomedical and Life Sciences</subject><subject>Blood group O</subject><subject>Blood groups</subject><subject>blood serum</subject><subject>Body mass index</subject><subject>C-reactive protein</subject><subject>disease incidence</subject><subject>Endoplasmic reticulum</subject><subject>Erythrocyte sedimentation rate</subject><subject>Gene polymorphism</subject><subject>genetic polymorphism</subject><subject>Genotyping</subject><subject>Histology</subject><subject>Life Sciences</subject><subject>Magnetic resonance imaging</subject><subject>magnetism</subject><subject>Males</subject><subject>Morphology</subject><subject>Original Article</subject><subject>overweight</subject><subject>patients</subject><subject>peptides</subject><subject>Polymorphism</subject><subject>Risk factors</subject><subject>Spondyloarthropathy</subject><issn>0301-4851</issn><issn>1573-4978</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><recordid>eNqFkc-K1jAUxYMozjefvoALCbgZF9WbpGnapQzqDAwIouuSJulnxubPJO2iT-RrTmpHBRe6CuH-zrn3cBB6QeANARBvMyHAWAW0rqCrWVvBI3QgXLCq7kT7GB2AAanqlpMzdJ7zLQDURPCn6Iy1nBMhugP68TlMBocRG69DnGR2VuFkZquWaXFYOutDNHG2WmZTEXwy3uAYptWFFL_Z7PBFyoSRRnSCvsbW46DUkpLxyuC8ZLVpBzvZed22SP99nUK2_oRzDF6vZWDzJpM4Sxf3W66TvLPYyfKLcrbGz_kZejLKKZvnD-8Rff3w_svlVXXz6eP15bubSjHezRVt2k4Jqg1oLlWJSIxo9chHTsaBgAZGTCs7oTQMQncUmBQD7Qg3rK1rRtkRXey-MYW7xeS5d7aEmCbpTVhyzwhnDQhg4v8oUFrKaAt8RK_-Qm_DknwJUijCgTeiqQtFd0qlkHMyYx-TdTKtPYF-a7zfG-9L4_3PxvvN-uWD9TI4o39LflVcALYDuYz8yaQ_u_9hew_3r7di</recordid><startdate>20241201</startdate><enddate>20241201</enddate><creator>Hassan, Sumyah Hussein</creator><creator>Auda, Ibtesam Ghadban</creator><creator>Ali, Ekhlass N.</creator><creator>Alosami, Mohammed Hadi</creator><creator>Hussein, Ranya H.</creator><general>Springer Netherlands</general><general>Springer Nature B.V</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>7TM</scope><scope>8FD</scope><scope>FR3</scope><scope>K9.</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope><scope>7S9</scope><scope>L.6</scope></search><sort><creationdate>20241201</creationdate><title>Role of endoplasmic reticulum aminopeptidase-1 gene polymorphism (rs13167972) in occurrence susceptibility of ankylosing spondylitis in a sample of Iraqi male patients</title><author>Hassan, Sumyah Hussein ; Auda, Ibtesam Ghadban ; Ali, Ekhlass N. ; Alosami, Mohammed Hadi ; Hussein, Ranya H.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c359t-2689c72de0d5ac1771e78df5f51fb10d031e8a97cd0b7d9203a7b2915e3844323</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>3' Untranslated regions</topic><topic>Alleles</topic><topic>Aminopeptidase</topic><topic>aminopeptidases</topic><topic>Animal Anatomy</topic><topic>Animal Biochemistry</topic><topic>Ankylosing spondylitis</topic><topic>Arthritis</topic><topic>Autoimmune diseases</topic><topic>Biomedical and Life Sciences</topic><topic>Blood group O</topic><topic>Blood groups</topic><topic>blood serum</topic><topic>Body mass index</topic><topic>C-reactive protein</topic><topic>disease incidence</topic><topic>Endoplasmic reticulum</topic><topic>Erythrocyte sedimentation rate</topic><topic>Gene polymorphism</topic><topic>genetic polymorphism</topic><topic>Genotyping</topic><topic>Histology</topic><topic>Life Sciences</topic><topic>Magnetic resonance imaging</topic><topic>magnetism</topic><topic>Males</topic><topic>Morphology</topic><topic>Original Article</topic><topic>overweight</topic><topic>patients</topic><topic>peptides</topic><topic>Polymorphism</topic><topic>Risk factors</topic><topic>Spondyloarthropathy</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hassan, Sumyah Hussein</creatorcontrib><creatorcontrib>Auda, Ibtesam Ghadban</creatorcontrib><creatorcontrib>Ali, Ekhlass N.</creatorcontrib><creatorcontrib>Alosami, Mohammed Hadi</creatorcontrib><creatorcontrib>Hussein, Ranya H.</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><collection>AGRICOLA</collection><collection>AGRICOLA - Academic</collection><jtitle>Molecular biology reports</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hassan, Sumyah Hussein</au><au>Auda, Ibtesam Ghadban</au><au>Ali, Ekhlass N.</au><au>Alosami, Mohammed Hadi</au><au>Hussein, Ranya H.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Role of endoplasmic reticulum aminopeptidase-1 gene polymorphism (rs13167972) in occurrence susceptibility of ankylosing spondylitis in a sample of Iraqi male patients</atitle><jtitle>Molecular biology reports</jtitle><stitle>Mol Biol Rep</stitle><addtitle>Mol Biol Rep</addtitle><date>2024-12-01</date><risdate>2024</risdate><volume>51</volume><issue>1</issue><spage>462</spage><epage>462</epage><pages>462-462</pages><artnum>462</artnum><issn>0301-4851</issn><eissn>1573-4978</eissn><abstract>Background
Ankylosing spondylitis (AS) is a chronic and systemic seronegative inflammatory spondyloarthropathy, an autoimmune disease that has been associated with impaired Endoplasmic Reticulum Aminopeptidase (ERAP)-1 activity, which is involved in priming antigenic peptides. The purpose of this study is to investigate the association of
3
-UTR of
ERAP1
gene polymorphism (rs13167972) with the AS occurrence susceptibility in a sample of Iraqi male patients.
Methods
The AS patients were diagnosed clinically and by magnetic resonance imaging (MRI) and other clinical and laboratory criteria like symptoms, increased C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR). The blood grouping and Body Mass Index (BMI) were also investigated to be associated with AS occurrence. The genotyping of the
3−
UTR region of the
ERAP1
gene (rs13167972) was done by Sanger sequencing.
Results
The results revealed that the AS occurred significantly in the age group of 20–35 years (p = 0.013). The BMI shows that the AS patients were overweighted males (p = 0.013) and the most predominant blood group in AS patients was O- (p = 0.002). The ESR and serum level of CRP were significantly raised in AS patient sera (< 0.001). The results of the receiver-operating characteristics curve analysis (ROC) revealed that the CRP (AUC: 0.995, cut-off: 2.48 mg/L, had 95% %sensitivity, 100% specificity, p < 0.001) is more discriminative than BMI (AUC: 0.300, cut-off: 46.91 kg, had 0% sensitivity, 100% specificity, p = 0.001), and ESR (AUC: 0.808, cut-off: 7.50 mm/hr, had 60% sensitivity, 88% specificity, p < 0.001) in distinguishing between AS patients and control group. The genotyping of the
3−
UTR region of
ERAP1
gene (rs13167972) result shows that the AG and GG genotypes are significantly occurring in AS patients (70%, OR: 2.33, 95%CI: 1.02–5.36, p = 0.04). The G allele is significantly occurring in AS patients (47%, OR: 2.07, 95CI%: 1.15–3.71, p = 0.01).
Conclusion
The AS occurred in young overweight males with blood group O-. The AG and GG genotypes are risk factors for AS development while the G allele is a risk factor that increases the chances for disease incidence.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>38551779</pmid><doi>10.1007/s11033-024-09438-0</doi><tpages>1</tpages></addata></record> |
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| subjects | 3' Untranslated regions Alleles Aminopeptidase aminopeptidases Animal Anatomy Animal Biochemistry Ankylosing spondylitis Arthritis Autoimmune diseases Biomedical and Life Sciences Blood group O Blood groups blood serum Body mass index C-reactive protein disease incidence Endoplasmic reticulum Erythrocyte sedimentation rate Gene polymorphism genetic polymorphism Genotyping Histology Life Sciences Magnetic resonance imaging magnetism Males Morphology Original Article overweight patients peptides Polymorphism Risk factors Spondyloarthropathy |
| title | Role of endoplasmic reticulum aminopeptidase-1 gene polymorphism (rs13167972) in occurrence susceptibility of ankylosing spondylitis in a sample of Iraqi male patients |
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