A Variant in Is Associated with the Risk of Ankylosing Spondylitis in Koreans
Ankylosing spondylitis (AS) is a chronic autoinflammatory disease that affects the spine and sacroiliac joints. Regarding its etiology, although HLA-B27 is known to be the strongest genetic factor of AS, much evidence suggests the potential contribution of non-MHC genes to the susceptibility to AS....
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BioMed Central
2017-06-01
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| Series: | Genomics & Informatics |
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| Online Access: | http://genominfo.org/upload/pdf/gni-15-65.pdf |
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| author | Sung-Min Cho Seung-Hyun Jung Yeun-Jun Chung |
| author_facet | Sung-Min Cho Seung-Hyun Jung Yeun-Jun Chung |
| author_sort | Sung-Min Cho |
| collection | DOAJ |
| description | Ankylosing spondylitis (AS) is a chronic autoinflammatory disease that affects the spine and sacroiliac joints. Regarding its etiology, although HLA-B27 is known to be the strongest genetic factor of AS, much evidence suggests the potential contribution of non-MHC genes to the susceptibility to AS. Most of these non-MHC genes have been discovered in non-Asian populations; however, just some of them have been validated in Koreans. In this study, we aimed to identify additional AS-associated single-nucleotide polymorphism (SNP) candidates by replicating the candidate SNPs in Korean AS patients and healthy controls. For this, we selected three SNPs (rs11249215 in RUNX3, rs6556416 in IL12B, and rs8070463 in TBKBP1), which were previously reported as risk factors of AS but have not been studied in Koreans, and performed genotyping assays using a total of 1138 Korean samples (572 AS patients and 566 healthy controls). Of the three SNP candidates, one SNP in RUNX3 (rs11249215) was significantly associated with the risk of AS (odds ratio, 1.31; 95% confidence interval, 1.02 to 1.68, p = 0.03). These results will be helpful in elucidating the pathogenesis of AS and may be useful for developing AS risk prediction models in Koreans. |
| format | Article |
| id | doaj-art-fddd18eb2e31436db2bd894ae8995e87 |
| institution | Kabale University |
| issn | 1598-866X 2234-0742 |
| language | English |
| publishDate | 2017-06-01 |
| publisher | BioMed Central |
| record_format | Article |
| series | Genomics & Informatics |
| spelling | doaj-art-fddd18eb2e31436db2bd894ae8995e872025-02-02T06:17:20ZengBioMed CentralGenomics & Informatics1598-866X2234-07422017-06-01152656810.5808/GI.2017.15.2.65208A Variant in Is Associated with the Risk of Ankylosing Spondylitis in KoreansSung-Min Cho0Seung-Hyun Jung1Yeun-Jun Chung2Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.Integrated Research Center for Genome Polymorphism, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul 06591, Korea.Ankylosing spondylitis (AS) is a chronic autoinflammatory disease that affects the spine and sacroiliac joints. Regarding its etiology, although HLA-B27 is known to be the strongest genetic factor of AS, much evidence suggests the potential contribution of non-MHC genes to the susceptibility to AS. Most of these non-MHC genes have been discovered in non-Asian populations; however, just some of them have been validated in Koreans. In this study, we aimed to identify additional AS-associated single-nucleotide polymorphism (SNP) candidates by replicating the candidate SNPs in Korean AS patients and healthy controls. For this, we selected three SNPs (rs11249215 in RUNX3, rs6556416 in IL12B, and rs8070463 in TBKBP1), which were previously reported as risk factors of AS but have not been studied in Koreans, and performed genotyping assays using a total of 1138 Korean samples (572 AS patients and 566 healthy controls). Of the three SNP candidates, one SNP in RUNX3 (rs11249215) was significantly associated with the risk of AS (odds ratio, 1.31; 95% confidence interval, 1.02 to 1.68, p = 0.03). These results will be helpful in elucidating the pathogenesis of AS and may be useful for developing AS risk prediction models in Koreans.http://genominfo.org/upload/pdf/gni-15-65.pdfankylosing spondylitisHLA-B27single nucleotide polymorphism |
| spellingShingle | Sung-Min Cho Seung-Hyun Jung Yeun-Jun Chung A Variant in Is Associated with the Risk of Ankylosing Spondylitis in Koreans Genomics & Informatics ankylosing spondylitis HLA-B27 single nucleotide polymorphism |
| title | A Variant in Is Associated with the Risk of Ankylosing Spondylitis in Koreans |
| title_full | A Variant in Is Associated with the Risk of Ankylosing Spondylitis in Koreans |
| title_fullStr | A Variant in Is Associated with the Risk of Ankylosing Spondylitis in Koreans |
| title_full_unstemmed | A Variant in Is Associated with the Risk of Ankylosing Spondylitis in Koreans |
| title_short | A Variant in Is Associated with the Risk of Ankylosing Spondylitis in Koreans |
| title_sort | variant in is associated with the risk of ankylosing spondylitis in koreans |
| topic | ankylosing spondylitis HLA-B27 single nucleotide polymorphism |
| url | http://genominfo.org/upload/pdf/gni-15-65.pdf |
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