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CELSR2 is a candida...
CELSR2 is a candidate susceptibility gene in idiopathic scoliosis
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- Einarsdottir, E. (author)
- Karolinska Institutet,Karolinska Institute,Folkhälsan Research Center,University of Helsinki
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- Grauers, A. (author)
- Karolinska Institute,Sundsvall Hospital
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- Wang, J. W. (author)
- Karolinska Institutet,Karolinska Institute
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- Jiao, H. (author)
- Karolinska Institutet,Karolinska Institute
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- Escher, S. A. (author)
- Lund University,Middelfart Hospital
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- Danielsson, Aina, 1953 (author)
- University of Gothenburg,Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för ortopedi,Institute of Clinical Sciences, Department of Orthopaedics,Sahlgrenska University Hospital
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Simony, A. (author)
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- Andersen, M. (author)
- Middelfart Hospital
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- Christensen, S. B. (author)
- Middelfart Hospital
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- Åkesson, Kristina (author)
- Lund University,Lunds universitet,Ortopedi,Forskargrupper vid Lunds universitet,Orthopedics,Lund University Research Groups,Skåne University Hospital
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- Kou, I. (author)
- RIKEN Center for Integrative Medical Sciences
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- Khanshour, A. M. (author)
- Texas Scottish Rite Hospital for Children
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- Ohlin, Acke (author)
- Skåne University Hospital
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- Wise, C. (author)
- University of Texas,Texas Scottish Rite Hospital for Children
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- Ikegawa, S. (author)
- RIKEN Center for Integrative Medical Sciences
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- Kere, J. (author)
- Karolinska Institutet,Karolinska Institute,Guy's and St Thomas' NHS Foundation Trust,King's College London,University of Helsinki
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- Gerdhem, Paul (author)
- Karolinska Institutet,Karolinska Institute,Karolinska University Hospital
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(creator_code:org_t)
- 2017-12-14
- 2017
- English.
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In: PLoS ONE. - : Public Library of Science (PLoS). - 1932-6203. ; 12:12
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Abstract
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- A Swedish pedigree with an autosomal dominant inheritance of idiopathic scoliosis was initially studied by genetic linkage analysis, prioritising genomic regions for further analysis. This revealed a locus on chromosome 1 with a putative risk haplotype shared by all affected individuals. Two affected individuals were subsequently exome-sequenced, identifying a rare, non-synonymous variant in the CELSR2 gene. This variant is rs141489111, a c. G6859A change in exon 21 (NM_001408), leading to a predicted p. V2287I (NP_001399.1) change. This variant was found in all affected members of the pedigree, but showed reduced penetrance. Analysis of tagging variants in CELSR1-3 in a set of 1739 Swedish-Danish scoliosis cases and 1812 controls revealed significant association (p = 0.0001) to rs2281894, a common synonymous variant in CELSR2. This association was not replicated in case-control cohorts from Japan and the US. No association was found to variants in CELSR1 or CELSR3. Our findings suggest a rare variant in CELSR2 as causative for idiopathic scoliosis in a family with dominant segregation and further highlight common variation in CELSR2 in general susceptibility to idiopathic scoliosis in the Swedish-Danish population. Both variants are located in the highly conserved GAIN protein domain, which is necessary for the auto-proteolysis of CELSR2, suggesting its functional importance.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Ortopedi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Orthopaedics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
Keyword
- genome-wide association
- genotype imputation
- functional snp
- variants
- cadherins
- disease
- gpr126
- plink
- gwas
- lbx1
- Science & Technology - Other Topics
Publication and Content Type
- ref (subject category)
- art (subject category)
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PLoS ONE
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- By the author/editor
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Einarsdottir, E.
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Grauers, A.
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Wang, J. W.
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Jiao, H.
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Escher, S. A.
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Danielsson, Aina ...
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show more...
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Simony, A.
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Andersen, M.
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Christensen, S. ...
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Åkesson, Kristin ...
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Kou, I.
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Khanshour, A. M.
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Ohlin, Acke
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Wise, C.
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Ikegawa, S.
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Kere, J.
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Gerdhem, Paul
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Orthopaedics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
- Articles in the publication
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PLoS ONE
- By the university
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University of Gothenburg
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Lund University
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Karolinska Institutet