NDLI: Identification of a Susceptibility Locus for Severe Adolescent Idiopathic Scoliosis on Chromosome 17q24.3

Content Provider	PubMed Central
Author	Miyake, Atsushi Kou, Ikuyo Takahashi, Yohei Johnson, Todd A. Ogura, Yoji Dai, Jin Qiu, Xusheng Takahashi, Atsushi Jiang, Hua Yan, Huang Kono, Katsuki Kawakami, Noriaki Uno, Koki Ito, Manabu Minami, Shohei Yanagida, Haruhisa Hiroshi, Taneichi Hosono, Naoya Tsuji, Taichi Suzuki, Teppei Sudo, Hideki Kotani, Toshiaki Yonezawa, Ikuho Kubo, Michiaki Tsunoda, Tatsuhiko Watanabe, Kota Chiba, Kazuhiro Toyama, Yoshiaki Qiu, Yong Matsumoto, Morio Ikegawa, Shiro
Editor	Grant, Struan Frederick Airth
Copyright Year	2013
Abstract	Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity, affecting around 2% of adolescents worldwide. Genetic factors play an important role in its etiology. Using a genome-wide association study (GWAS), we recently identified novel AIS susceptibility loci on chromosomes 10q24.31 and 6q24.1. To identify more AIS susceptibility loci relating to its severity and progression, we performed GWAS by limiting the case subjects to those with severe AIS. Through a two-stage association study using a total of ∼12,000 Japanese subjects, we identified a common variant, rs12946942 that showed a significant association with severe AIS in the recessive model (P = 4.00×10−8, odds ratio [OR] = 2.05). Its association was replicated in a Chinese population (combined P = 6.43×10−12, OR = 2.21). rs12946942 is on chromosome 17q24.3 near the genes SOX9 and KCNJ2, which when mutated cause scoliosis phenotypes. Our findings will offer new insight into the etiology and progression of AIS.
Related Links	http://dx.doi.org/10.1371/journal.pone.0072802
Starting Page	72802
File Format	PDF
ISSN	19326203
e-ISSN	19326203
Journal	PLoS ONE
Issue Number	9
Volume Number	8
Language	English
Publisher	Public Library of Science
Publisher Date	2013-09-01
Access Restriction	Open
Rights Holder	Public Library of Science
Subject Keyword	Biochemistry, Genetics and Molecular Biology(all) Agricultural and Biological Sciences(all) Medicine(all) Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Multidisciplinary

Sl.	Authority	Responsibilities	Communication Details
1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
5	Website/Portal (Helpdesk)	Queries regarding NDLI and its services	support@ndl.gov.in
6	Contents and Copyright Issues	Queries related to content curation and copyright issues	content@ndl.gov.in
7	National Digital Library of India Club (NDLI Club)	Queries related to NDLI Club formation, support, user awareness program, seminar/symposium, collaboration, social media, promotion, and outreach	clubsupport@ndl.gov.in
8	Digital Preservation Centre (DPC)	Assistance with digitizing and archiving copyright-free printed books	dpc@ndl.gov.in
9	IDR Setup or Support	Queries related to establishment and support of Institutional Digital Repository (IDR) and IDR workshops	idr@ndl.gov.in

How ‘Idiopathic’ Is Adolescent Idiopathic Scoliosis? A Systematic Review on Associated Abnormalities

Identification of Candidate Genes for Dyslexia Susceptibility on Chromosome 18

Identification of a Potential Susceptibility Locus for Macular Telangiectasia Type 2

Correction: Identification of Candidate Genes for Dyslexia Susceptibility on Chromosome 18

Identification of a Novel Idiopathic Epilepsy Locus in Belgian Shepherd Dogs

Three-Dimensional Vertebral Wedging in Mild and Moderate Adolescent Idiopathic Scoliosis

Reliability and Validity Study of Clinical Ultrasound Imaging on Lateral Curvature of Adolescent Idiopathic Scoliosis

A Novel Locus for Adolescent Idiopathic Scoliosis on Chromosome 12p

Altered Topological Organization of Cortical Network in Adolescent Girls with Idiopathic Scoliosis

Identification of a Susceptibility Locus for Severe Adolescent Idiopathic Scoliosis on Chromosome 17q24.3

Similar Documents

How ‘Idiopathic’ Is Adolescent Idiopathic Scoliosis? A Systematic Review on Associated Abnormalities

Identification of Candidate Genes for Dyslexia Susceptibility on Chromosome 18

Identification of a Potential Susceptibility Locus for Macular Telangiectasia Type 2

Correction: Identification of Candidate Genes for Dyslexia Susceptibility on Chromosome 18

Identification of a Novel Idiopathic Epilepsy Locus in Belgian Shepherd Dogs

Three-Dimensional Vertebral Wedging in Mild and Moderate Adolescent Idiopathic Scoliosis

Reliability and Validity Study of Clinical Ultrasound Imaging on Lateral Curvature of Adolescent Idiopathic Scoliosis

A Novel Locus for Adolescent Idiopathic Scoliosis on Chromosome 12p

Altered Topological Organization of Cortical Network in Adolescent Girls with Idiopathic Scoliosis

Identification of a Susceptibility Locus for Severe Adolescent Idiopathic Scoliosis on Chromosome 17q24.3