Genome-wide association study identifies novel susceptible loci and highlights Wnt/beta-catenin pathway in the development of adolescent idiopathic scoliosis
The genetic architecture of adolescent idiopathic scoliosis (AIS) remains poorly understood. Here we present the result of a 4-stage genome-wide association study composed of 5,953 AIS patients and 8,137 controls. Overall, we identified three novel susceptible loci including rs7593846 at 2p14 near M...
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| Published in | Human molecular genetics Vol. 26; no. 8; pp. 1577 - 1583 |
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| Main Authors | , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
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15.04.2017
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| Abstract | The genetic architecture of adolescent idiopathic scoliosis (AIS) remains poorly understood. Here we present the result of a 4-stage genome-wide association study composed of 5,953 AIS patients and 8,137 controls. Overall, we identified three novel susceptible loci including rs7593846 at 2p14 near MEIS1 (Pcombined = 1.19 × 10-13, OR = 1.21, 95% CI = 1.10-1.32), rs7633294 at 3p14.1 near MAGI1 (Pcombined = 1.85 × 10-12, OR = 1.20, 95% CI = 1.09-1.32), and rs9810566 at 3q26.2 near TNIK (Pcombined = 1.14 × 10-11, OR = 1.19, 95% CI = 1.08-1.32). We also confirmed a recently reported region associated with AIS at 20p11.22 (Pcombined = 1.61 × 10-15, OR = 1.22, 95% CI = 1.12-1.34). Furthermore, we observed significantly asymmetric expression of Wnt/beta-catenin pathway in the bilateral paraspinal muscle of AIS patients, including beta-catenin, TNIK, and LBX1. This is the first study that unveils the potential role of Wnt/beta-catenin pathway in the development of AIS, and our findings may shed new light on the etiopathogenesis of AIS. |
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| AbstractList | The genetic architecture of adolescent idiopathic scoliosis (AIS) remains poorly understood. Here we present the result of a 4-stage genome-wide association study composed of 5,953 AIS patients and 8,137 controls. Overall, we identified three novel susceptible loci including rs7593846 at 2p14 near MEIS1 (Pcombined = 1.19 × 10-13, OR = 1.21, 95% CI = 1.10-1.32), rs7633294 at 3p14.1 near MAGI1 (Pcombined = 1.85 × 10-12, OR = 1.20, 95% CI = 1.09-1.32), and rs9810566 at 3q26.2 near TNIK (Pcombined = 1.14 × 10-11, OR = 1.19, 95% CI = 1.08-1.32). We also confirmed a recently reported region associated with AIS at 20p11.22 (Pcombined = 1.61 × 10-15, OR = 1.22, 95% CI = 1.12-1.34). Furthermore, we observed significantly asymmetric expression of Wnt/beta-catenin pathway in the bilateral paraspinal muscle of AIS patients, including beta-catenin, TNIK, and LBX1. This is the first study that unveils the potential role of Wnt/beta-catenin pathway in the development of AIS, and our findings may shed new light on the etiopathogenesis of AIS. The genetic architecture of adolescent idiopathic scoliosis (AIS) remains poorly understood. Here we present the result of a 4-stage genome-wide association study composed of 5,953 AIS patients and 8,137 controls. Overall, we identified three novel susceptible loci including rs7593846 at 2p14 near MEIS1 (Pcombined = 1.19 × 10-13, OR = 1.21, 95% CI = 1.10-1.32), rs7633294 at 3p14.1 near MAGI1 (Pcombined = 1.85 × 10-12, OR = 1.20, 95% CI = 1.09-1.32), and rs9810566 at 3q26.2 near TNIK (Pcombined = 1.14 × 10-11, OR = 1.19, 95% CI = 1.08-1.32). We also confirmed a recently reported region associated with AIS at 20p11.22 (Pcombined = 1.61 × 10-15, OR = 1.22, 95% CI = 1.12-1.34). Furthermore, we observed significantly asymmetric expression of Wnt/beta-catenin pathway in the bilateral paraspinal muscle of AIS patients, including beta-catenin, TNIK, and LBX1. This is the first study that unveils the potential role of Wnt/beta-catenin pathway in the development of AIS, and our findings may shed new light on the etiopathogenesis of AIS.The genetic architecture of adolescent idiopathic scoliosis (AIS) remains poorly understood. Here we present the result of a 4-stage genome-wide association study composed of 5,953 AIS patients and 8,137 controls. Overall, we identified three novel susceptible loci including rs7593846 at 2p14 near MEIS1 (Pcombined = 1.19 × 10-13, OR = 1.21, 95% CI = 1.10-1.32), rs7633294 at 3p14.1 near MAGI1 (Pcombined = 1.85 × 10-12, OR = 1.20, 95% CI = 1.09-1.32), and rs9810566 at 3q26.2 near TNIK (Pcombined = 1.14 × 10-11, OR = 1.19, 95% CI = 1.08-1.32). We also confirmed a recently reported region associated with AIS at 20p11.22 (Pcombined = 1.61 × 10-15, OR = 1.22, 95% CI = 1.12-1.34). Furthermore, we observed significantly asymmetric expression of Wnt/beta-catenin pathway in the bilateral paraspinal muscle of AIS patients, including beta-catenin, TNIK, and LBX1. This is the first study that unveils the potential role of Wnt/beta-catenin pathway in the development of AIS, and our findings may shed new light on the etiopathogenesis of AIS. |
| Author | Xu, Leilei Shi, Benlong Li, Fangcai Leung-Sang Tang, Nelson Qin, Xiaodong Chun-Yiu Cheng, Jack Liu, Zhen Mao, Saihu Qiao, Jun Zhu, Zezhang Sun, Xu Zhu, Weiguo Liu, Peng Sun, Weixiang Qiu, Yong Feng, Zhenhua |
| Author_xml | – sequence: 1 givenname: Zezhang surname: Zhu fullname: Zhu, Zezhang organization: Department of Spine Surgery, The Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, P.R. China, Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008 & Hong Kong 999077, P.R. China – sequence: 2 givenname: Leilei surname: Xu fullname: Xu, Leilei organization: Department of Spine Surgery, The Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, P.R. China, Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008 & Hong Kong 999077, P.R. China – sequence: 3 givenname: Nelson surname: Leung-Sang Tang fullname: Leung-Sang Tang, Nelson organization: Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008 & Hong Kong 999077, P.R. China, Department of Chemical Pathology and School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong 999077, P.R. China, Li Ka Shing Institute of Health Sciences, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong 999077, P.R. China – sequence: 4 givenname: Xiaodong surname: Qin fullname: Qin, Xiaodong organization: Department of Spine Surgery, The Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, P.R. China, Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008 & Hong Kong 999077, P.R. China – sequence: 5 givenname: Zhenhua surname: Feng fullname: Feng, Zhenhua organization: Department of Spine Surgery, The Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, P.R. China, Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008 & Hong Kong 999077, P.R. China – sequence: 6 givenname: Weixiang surname: Sun fullname: Sun, Weixiang organization: Department of Spine Surgery, The Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, P.R. China, Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008 & Hong Kong 999077, P.R. China – sequence: 7 givenname: Weiguo surname: Zhu fullname: Zhu, Weiguo organization: Department of Spine Surgery, The Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, P.R. China, Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008 & Hong Kong 999077, P.R. China – sequence: 8 givenname: Benlong surname: Shi fullname: Shi, Benlong organization: Department of Spine Surgery, The Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, P.R. China – sequence: 9 givenname: Peng surname: Liu fullname: Liu, Peng organization: Department of Orthopaedics, China-Japan Union Hospital of Jilin University, Changchun 130116, P.R. China – sequence: 10 givenname: Saihu surname: Mao fullname: Mao, Saihu organization: Department of Spine Surgery, The Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, P.R. China, Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008 & Hong Kong 999077, P.R. China – sequence: 11 givenname: Jun surname: Qiao fullname: Qiao, Jun organization: Department of Spine Surgery, The Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, P.R. China – sequence: 12 givenname: Zhen surname: Liu fullname: Liu, Zhen organization: Department of Spine Surgery, The Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, P.R. China – sequence: 13 givenname: Xu surname: Sun fullname: Sun, Xu organization: Department of Spine Surgery, The Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, P.R. China – sequence: 14 givenname: Fangcai surname: Li fullname: Li, Fangcai organization: Department of Orthopaedics, The Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310002, P.R. China – sequence: 15 givenname: Jack surname: Chun-Yiu Cheng fullname: Chun-Yiu Cheng, Jack organization: Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008 & Hong Kong 999077, P.R. China, Department of Orthopaedics and Traumatology, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong 999077, P.R. China – sequence: 16 givenname: Yong surname: Qiu fullname: Qiu, Yong organization: Department of Spine Surgery, The Drum Tower Hospital of Nanjing University Medical School, Nanjing 210008, P.R. China, Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University, Nanjing 210008 & Hong Kong 999077, P.R. China |
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| Snippet | The genetic architecture of adolescent idiopathic scoliosis (AIS) remains poorly understood. Here we present the result of a 4-stage genome-wide association... |
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| SubjectTerms | Adolescent beta Catenin - biosynthesis beta Catenin - genetics Cell Adhesion Molecules, Neuronal - genetics Female Gene Expression Regulation Genetic Predisposition to Disease Genome-Wide Association Study Genotype Germinal Center Kinases Homeodomain Proteins - biosynthesis Homeodomain Proteins - genetics Humans Male Myeloid Ecotropic Viral Integration Site 1 Protein Neoplasm Proteins - genetics Polymorphism, Single Nucleotide Protein-Serine-Threonine Kinases - genetics Scoliosis - genetics Scoliosis - pathology Transcription Factors - biosynthesis Wnt Signaling Pathway |
| Title | Genome-wide association study identifies novel susceptible loci and highlights Wnt/beta-catenin pathway in the development of adolescent idiopathic scoliosis |
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