ArticleNature communications2018
A missense variant in SLC39A8 is associated with severe idiopathic scoliosis.
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Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 2 of them syntheses that pooled it.
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48citing papers in PubMed, 2 pooled it
3.9field-weighted citation impact, top 5% of its field
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Who cites it
48 citing papers in PubMed, 2 syntheses or guidelines pooled it, 78 citations in OpenAlex.
- Multi-ancestry meta-analysis of genome-wide association studies discovers 67 new loci associated with chronic back pain.Nature communications · 2025Pooled it
- Genome-wide association study identifies 14 previously unreported susceptibility loci for adolescent idiopathic scoliosis in Japanese.Nature communications · 2019Pooled it
- Massively parallel characterization of adolescent idiopathic scoliosis risk variants.Genome research · 2026Article
- Functional characterization of a novel ZIP8 variant causing impaired manganese homeostasis and congenital disorders of glycosylation.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2026Article
- Functional screening of ZIP8 naturally occurring variants identifies pathogenic mutations and trafficking defects.The Journal of biological chemistry · 2026Article
- Manganese: biology, physiology and role in disease.Cell discovery · 2026Review
- Functional screening of ZIP8 naturally occurring variants identifies pathogenic mutations and trafficking defects.bioRxiv : the preprint server for biology · 2026Article
- Exosome-mediated cholesterol flow drives scoliosis progression via promoting the spinal cartilage-bone positive feedback.Communications biology · 2026Article
- Independent association of leg-height ratio with 15 cardiometabolic diseases.Cardiovascular diabetology · 2026Article
- Zinc Transporter Gene Variants (SLC30A and SLC39A) in Human Disease: From Metal Homeostasis Disruption to Convergent Signaling Pathways.Human mutation · 2026Review
- Metal Transporter GeneNutrients · 2025Article
- The importance of imperfect pre-clinical models in adolescent idiopathic scoliosis.Disease models & mechanisms · 2025Review
- Rare missense variants inJournal of medical genetics · 2025Article
- Human genetic variants in SLC39A8 impact uptake and steady-state metal levels within the cell.Life science alliance · 2025Article
- Neuronal SLC39A8 deficiency impairs cerebellar development by altering manganese homeostasis.JCI insight · 2024Article
- Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis.Journal of medical genetics · 2024Article
- The manganese transporter SLC39A8 links alkaline ceramidase 1 to inflammatory bowel disease.Nature communications · 2024Article
- Impaired glycine neurotransmission causes adolescent idiopathic scoliosis.The Journal of clinical investigation · 2024Article
- Patterns of item nonresponse behaviour to survey questionnaires are systematic and associated with genetic loci.Nature human behaviour · 2023Article
- Diverse monogenic subforms of human spermatogenic failure.Nature communications · 2022Article
Corrections and comments
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Authors and funding
22 authors at 9 institutions in 1 country.
Gabe HallerDepartment of Orthopaedic Surgery, Washington University, St. Louis, MO, USA.
Kevin McCallDepartment of Orthopaedic Surgery, Washington University, St. Louis, MO, USA.
Supak JenkitkasemwongFood Science and Human Nutrition Department, University of Florida, Gainesville, FL, USA.
Brooke SadlerDepartment of Neurology, Washington University, St. Louis, MO, USA.
Lilian AntunesDepartment of Orthopaedic Surgery, Washington University, St. Louis, MO, USA.
Momchil NikolovDepartment of Orthopaedic Surgery, Washington University, St. Louis, MO, USA.
Julia WhittleDepartment of Orthopaedic Surgery, Washington University, St. Louis, MO, USA.
Zachary UpshawDepartment of Orthopaedic Surgery, Washington University, St. Louis, MO, USA.
Jimann ShinDepartment of Developmental Biology, Washington University School of Medicine, St. Louis, MO, USA.
Erin BaschalDepartment of Orthopaedic Surgery, University of Colorado, Denver, CO, USA.
Carlos CruchagaDepartment of Psychiatry, Washington University, St. Louis, MO, USA.
Matthew HarmsDepartment of Neurology, Columbia University, New York, NY, USA.
Cathleen RaggioHospital for Special Surgery, New York, NY, USA.
Jose A MorcuendeDepartment of Orthopaedics and Rehabilitation, University of Iowa, Iowa City, IA, USA.
Philip GiampietroDepartment of Pediatrics, Drexel University, Philadelphia, PA, USA.
Nancy H MillerDepartment of Orthopaedic Surgery, University of Colorado, Denver, CO, USA.
Carol WiseSarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children, Dallas, TX, USA.ORCID http://orcid.org/0000-0002-6790-2194
Ryan S GrayDepartment of Pediatrics, Dell Pediatric Research Institute, Dell Medical School, The University of Texas at Austin, Austin, TX, USA.ORCID http://orcid.org/0000-0001-9668-6497
Lila Solnica-KrezelDepartment of Developmental Biology, Washington University School of Medicine, St. Louis, MO, USA.
Mitchell KnutsonFood Science and Human Nutrition Department, University of Florida, Gainesville, FL, USA.
Matthew B DobbsDepartment of Orthopaedic Surgery, Washington University, St. Louis, MO, USA.
Christina A GurnettDepartment of Orthopaedic Surgery, Washington University, St. Louis, MO, USA. gurnettc@neuro.wustl.edu.
Washington University in St. Louis · USUniversity of Colorado Denver · USUniversity of Florida · USColumbia University · USDell Children's Medical Center of Central Texas · USDrexel University · USHospital for Special Surgery · USTexas Scottish Rite Hospital for Children · USUniversity of Iowa · US
Funding
Washington University Center for Cellular ImagingP30CA091842 · NCI · WASHINGTON UNIVERSITY · PI TIMOTHY J. EBERLEIN · 2001 to 2026
$128.0MWU INSTITUTE OF CLINICAL AND TRANSLATIONAL SCIENCESUL1TR002345 · NCATS · WASHINGTON UNIVERSITY · PI William G. Powderly · 2017 to 2026
$97.8MWashington University Institute of Clinical and Translational Sciences (UL1)UL1RR024992 · NCRR · WASHINGTON UNIVERSITY · PI EVANOFF, BRADLEY A · 2007 to 2011
$45.4MTRAINING PROGRAM IN CELLULAR AND MOLECULAR BIOLOGYT32GM007067 · NIGMS · WASHINGTON UNIVERSITY · PI TRUE-KROB, HEATHER L · 1985 to 2020
$20.4MNon-coding/epigenetic regulationP01HD084387 · NICHD · UT SOUTHWESTERN MEDICAL CENTER · PI Nadav Ahituv, LILIANNA SOLNICAKREZEL · 2016 to 2026
$14.2MWashington University Intellectual and Developmental Disabilities Research Center-Administrative Down Syndrome SupplementU54HD087011 · NICHD · WASHINGTON UNIVERSITY · PI MOLEY, KELLE H · 2015 to 2019
$7.1MGenetic Risk Factors for Severe ScoliosisR01AR067715 · NIAMS · WASHINGTON UNIVERSITY · PI DOBBS, MATTHEW BARRETT, GURNETT, CHRISTINA · 2015 to 2024
$6.0MThe Role of the Osteoblast Secretome in Bone FormationP30AR057235 · NIAMS · WASHINGTON UNIVERSITY · PI SILVA, MATTHEW J · 2009 to 2018
$5.7MWashington University Intellectual and Developmental Disabilities Research CenterP30HD062171 · NICHD · WASHINGTON UNIVERSITY · PI INDER, TERRIE E · 2010 to 2014
$4.3MTowards a Mechanistic Undestanding of Adolscent Idiopathic ScoliosisR01AR072009 · NIAMS · UNIVERSITY OF TEXAS AT AUSTIN · PI Ryan Scott Gray · 2017 to 2026
$3.9MHIGH PERFORMANCE BIOMEDICAL IMAGING COMPUTER RESOURCESS10RR022984 · NCRR · WASHINGTON UNIVERSITY · PI PRIOR, FRED WILLIAM · 2009 to 2009
$1.9MFamilial idiopathic scoliosis: gene discovery and functional studiesR01AR068292 · NIAMS · UNIVERSITY OF COLORADO DENVER · PI HADLEY-MILLER, NANCY · 2015 to 2019
$1.7MNCATS NIH HHS UL1 TR002345NCI NIH HHS P30 CA091842NCRR NIH HHS S10 RR022984NCRR NIH HHS UL1 RR024992NIAMS NIH HHS P30 AR057235NIAMS NIH HHS R01 AR067715NIAMS NIH HHS R01 AR068292NIAMS NIH HHS R01 AR072009NICHD NIH HHS P01 HD084387NICHD NIH HHS P30 HD062171NICHD NIH HHS U54 HD087011NIGMS NIH HHS T32 GM007067NIH HHS S10 OD018091U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) P01HD084387U.S. Department of Health & Human Services | NIH | National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) R01AR067715
Abstract
Genetic factors predictive of severe adolescent idiopathic scoliosis (AIS) are largely unknown. To identify genetic variation associated with severe AIS, we performed an exome-wide association study of 457 severe AIS cases and 987 controls. We find a missense SNP in SLC39A8 (p.Ala391Thr, rs13107325) associated with severe AIS (P = 1.60 × 10
Indexed as
Genetic Predisposition to DiseaseAnimalsBone and BonesCation Transport ProteinsExomeGenetic Association StudiesHEK293 CellsHumansIonsMovementMutation, MissensePolymorphism, Single NucleotideScoliosisZebrafishCation Transport ProteinsIonsSLC39A8 protein, human
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