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      Genome-wide association study identifies new susceptibility loci for adolescent idiopathic scoliosis in Chinese girls

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          Abstract

          Adolescent idiopathic scoliosis (AIS) is a structural deformity of the spine affecting millions of children. As a complex disease, the genetic aetiology of AIS remains obscure. Here we report the results of a four-stage genome-wide association study (GWAS) conducted in a sample of 4,317 AIS patients and 6,016 controls. Overall, we identify three new susceptibility loci at 1p36.32 near AJAP1 (rs241215, P combined=2.95 × 10 −9), 2q36.1 between PAX3 and EPHA4 (rs13398147, P combined=7.59 × 10 −13) and 18q21.33 near BCL-2 (rs4940576, P combined=2.22 × 10 −12). In addition, we refine a previously reported region associated with AIS at 10q24.32 (rs678741, P combined=9.68 × 10 −37), which suggests LBX1AS1, encoding an antisense transcript of LBX1, might be a functional variant of AIS. This is the first GWAS investigating genetic variants associated with AIS in Chinese population, and the findings provide new insight into the multiple aetiological mechanisms of AIS.

          Abstract

          The authors perform a genome-wide association study of adolescent idiopathic scoliosis patients of Han Chinese descent, and identify 3 new loci for disease susceptibility.

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          Most cited references45

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          The mystery of BCL2 family: Bcl-2 proteins and apoptosis: an update.

          Waseem Ahmad Siddiqui, Amjid Ahad, Haseeb Ahsan (2015)
          Apoptosis is a critically important biological process that plays an essential role in cell fate and homeostasis. An important component of the apoptotic pathway is the family of proteins commonly known as the B cell lymphoma-2 (Bcl-2). The primary role of Bcl-2 family members is the regulation of apoptosis. Although the structure of Bcl-2 family of proteins was reported nearly 10 years ago, however, it still surprises us with its structural and functional complexity and diversity. A number of studies have demonstrated that Bcl-2 family influences many other cellular processes beyond apoptosis which are generally independent of the regulation of apoptosis, suggesting additional roles for Bcl-2. The disruption of the regulation of apoptosis is a causative event in many diseases. Since the Bcl-2 family of proteins is the key regulator of apoptosis, the abnormalities in its function have been implicated in many diseases including cancer, neurodegenerative disorders, ischemia and autoimmune diseases. In the past few years, our understanding of the mechanism of action of Bcl-2 family of proteins and its implications in various pathological conditions has enhanced significantly. The focus of this review is to summarize the current knowledge on the structure and function of Bcl-2 family of proteins in apoptotic cellular processes. A number of drugs have been developed in the past few years that target different Bcl-2 members. The role of Bcl-2 proteins in the pathogenesis of various diseases and their pharmacological significance as effective molecular therapeutic targets is also discussed.
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            Genetic variants in GPR126 are associated with adolescent idiopathic scoliosis.

            Ikuyo Kou, Yohei Takahashi, Todd Johnson … (2013)
            Adolescent idiopathic scoliosis (AIS) is the most common pediatric skeletal disease. We previously reported a locus on chromosome 10q24.31 associated with AIS susceptibility in Japanese using a genome-wide association study (GWAS) consisting of 1,033 cases and 1,473 controls. To identify additional AIS-associated loci, we expanded the study by adding X-chromosome SNPs in the GWAS and increasing the size of the replication cohorts. Through a stepwise association study including 1,819 cases and 25,939 controls, we identified a new susceptibility locus on chromosome 6q24.1 in Japanese (P = 2.25 × 10(-10); odds ratio (OR) = 1.28). The most significantly associated SNP, rs6570507, was in GPR126 (encoding G protein-coupled receptor 126). Its association was replicated in Han Chinese and European-ancestry populations (combined P = 1.27 × 10(-14); OR = 1.27). GPR126 was highly expressed in cartilage, and the knockdown of gpr126 in zebrafish caused delayed ossification of the developing spine. Our results should provide insights into the etiology and pathogenesis of AIS.
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              The role of Pax genes in the development of tissues and organs: Pax3 and Pax7 regulate muscle progenitor cell functions.

              Margaret Buckingham, Frédéric Relaix (2007)
              Pax genes play key roles in the formation of tissues and organs during embryogenesis. Pax3 and Pax7 mark myogenic progenitor cells and regulate their behavior and their entry into the program of skeletal muscle differentiation. Recent results have underlined the importance of the Pax3/7 population of cells for skeletal muscle development and regeneration. We present our current understanding of different aspects of Pax3/7 function in myogenesis, focusing on the mouse model. This is compared with that of other Pax proteins in the emergence of tissue specific lineages and their differentiation as well as in cell survival, proliferation, and migration. Finally, we consider the molecular mechanisms that underlie the function of Pax transcription factors, including the cofactors and regulatory networks with which they interact.
              Article 0 comments Cited 115 times – based on 0 reviews     Review now
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                Author and article information

                Journal
                Journal ID (nlm-ta): Nat Commun
                Journal ID (iso-abbrev): Nat Commun
                Title: Nature Communications
                Publisher: Nature Pub. Group
                ISSN (Electronic): 2041-1723
                Publication date (Electronic): 22 September 2015
                Publication date Collection: 2015
                Volume: 6
                Electronic Location Identifier: 8355
                Affiliations
                [1 ]Department of Spine Surgery, the Affiliated Drum Tower Hospital of Nanjing University Medical School , Nanjing 210008, China
                [2 ]Joint Scoliosis Research Center of The Chinese University of Hong Kong and Nanjing University , Nanjing 210008, China
                [3 ]Department of Chemical Pathology, Faculty of Medicine, The Chinese University of Hong Kong , Hong Kong, China
                [4 ]School of Biomedical Sciences, Faculty of Medicine, The Chinese University of Hong Kong , Hong Kong, China
                [5 ]Li Ka Shing Institute of Health Sciences, Faculty of Medicine, The Chinese University of Hong Kong , Hong Kong, China
                [6 ]Department of Orthopaedic, The West China Hospital, Sichuan University , Chengdu 610000, China
                [7 ]Department of Orthopaedic, The Second Affiliated Hospital of Zhejiang University School of Medicine , Hangzhou 310000, China
                [8 ]Department of Orthopaedic, China-Japan Union Hospital of Jilin University , Changchun 130022, China
                [9 ]Jiangsu Key Laboratory for Molecular Medicine, Nanjing University Medical School , Nanjing 210008, China
                [10 ]State Key Laboratory of Environment Health (Incubation), MOE (Ministry of Education) Key Laboratory of Environment & Health, Ministry of Environmental Protection Key Laboratory of Environment and Health (Wuhan), School of Public Health, Tongji Medical College, Huazhong University of Science and Technology , Wuhan 430000, China
                [11 ]Department of Orthopaedic, Yixing People Hospital , Wuxi 214200, China
                [12 ]Department of Orthopaedics and Traumatology, Faculty of Medicine, The Chinese University of Hong Kong , Hong Kong, China
                Author notes
                [*]

                These authors contributed equally to this work.

                [†]

                These authors jointly supervised this work.

                Article
                Publisher Item ID: ncomms9355
                DOI: 10.1038/ncomms9355
                PMC ID: 4595747
                PubMed ID: 26394188
                SO-VID: b29ddd9c-db87-4744-b378-56a6113d09b7
                Copyright © Copyright © 2015, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.
                License:

                This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/

                History
                Date received : 28 April 2015
                Date accepted : 13 August 2015
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