Nature Communications (Oct 2018)
A missense variant in SLC39A8 is associated with severe idiopathic scoliosis
- Gabe Haller,
- Kevin McCall,
- Supak Jenkitkasemwong,
- Brooke Sadler,
- Lilian Antunes,
- Momchil Nikolov,
- Julia Whittle,
- Zachary Upshaw,
- Jimann Shin,
- Erin Baschal,
- Carlos Cruchaga,
- Matthew Harms,
- Cathleen Raggio,
- Jose A. Morcuende,
- Philip Giampietro,
- Nancy H. Miller,
- Carol Wise,
- Ryan S. Gray,
- Lila Solnica-Krezel,
- Mitchell Knutson,
- Matthew B. Dobbs,
- Christina A. Gurnett
Affiliations
- Gabe Haller
- Department of Orthopaedic Surgery, Washington University
- Kevin McCall
- Department of Orthopaedic Surgery, Washington University
- Supak Jenkitkasemwong
- Food Science and Human Nutrition Department, University of Florida
- Brooke Sadler
- Department of Neurology, Washington University
- Lilian Antunes
- Department of Orthopaedic Surgery, Washington University
- Momchil Nikolov
- Department of Orthopaedic Surgery, Washington University
- Julia Whittle
- Department of Orthopaedic Surgery, Washington University
- Zachary Upshaw
- Department of Orthopaedic Surgery, Washington University
- Jimann Shin
- Department of Developmental Biology, Washington University School of Medicine
- Erin Baschal
- Department of Orthopaedic Surgery, University of Colorado
- Carlos Cruchaga
- Department of Psychiatry, Washington University
- Matthew Harms
- Department of Neurology, Columbia University
- Cathleen Raggio
- Hospital for Special Surgery
- Jose A. Morcuende
- Department of Orthopaedics and Rehabilitation, University of Iowa
- Philip Giampietro
- Department of Pediatrics, Drexel University
- Nancy H. Miller
- Department of Orthopaedic Surgery, University of Colorado
- Carol Wise
- Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Texas Scottish Rite Hospital for Children
- Ryan S. Gray
- Department of Pediatrics, Dell Pediatric Research Institute, Dell Medical School, The University of Texas at Austin
- Lila Solnica-Krezel
- Department of Developmental Biology, Washington University School of Medicine
- Mitchell Knutson
- Food Science and Human Nutrition Department, University of Florida
- Matthew B. Dobbs
- Department of Orthopaedic Surgery, Washington University
- Christina A. Gurnett
- Department of Orthopaedic Surgery, Washington University
- DOI
- https://doi.org/10.1038/s41467-018-06705-0
- Journal volume & issue
-
Vol. 9,
no. 1
pp. 1 – 7
Abstract
The majority of scoliosis is considered idiopathic with onset in adolescence (AIS) and has a genetic contribution. Here, the authors perform an exome wide association study of data from 457 severe AIS cases and 987 controls, and find a missense variant in SLC39A8 is associated with AIS.
