A missense variant in SLC39A8 is associated with severe idiopathic scoliosis

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.

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Autores principales: 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
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Publicado: Nature Portfolio 2018
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Acceso en línea:https://doaj.org/article/04b3d3a563384542b1a9a97bf011c0d4
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spelling oai:doaj.org-article:04b3d3a563384542b1a9a97bf011c0d42021-12-02T15:33:36ZA missense variant in SLC39A8 is associated with severe idiopathic scoliosis10.1038/s41467-018-06705-02041-1723https://doaj.org/article/04b3d3a563384542b1a9a97bf011c0d42018-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-018-06705-0https://doaj.org/toc/2041-1723The 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.Gabe HallerKevin McCallSupak JenkitkasemwongBrooke SadlerLilian AntunesMomchil NikolovJulia WhittleZachary UpshawJimann ShinErin BaschalCarlos CruchagaMatthew HarmsCathleen RaggioJose A. MorcuendePhilip GiampietroNancy H. MillerCarol WiseRyan S. GrayLila Solnica-KrezelMitchell KnutsonMatthew B. DobbsChristina A. GurnettNature PortfolioarticleScienceQENNature Communications, Vol 9, Iss 1, Pp 1-7 (2018)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
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
A missense variant in SLC39A8 is associated with severe idiopathic scoliosis
description 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.
format article
author 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
author_facet 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
author_sort Gabe Haller
title A missense variant in SLC39A8 is associated with severe idiopathic scoliosis
title_short A missense variant in SLC39A8 is associated with severe idiopathic scoliosis
title_full A missense variant in SLC39A8 is associated with severe idiopathic scoliosis
title_fullStr A missense variant in SLC39A8 is associated with severe idiopathic scoliosis
title_full_unstemmed A missense variant in SLC39A8 is associated with severe idiopathic scoliosis
title_sort missense variant in slc39a8 is associated with severe idiopathic scoliosis
publisher Nature Portfolio
publishDate 2018
url https://doaj.org/article/04b3d3a563384542b1a9a97bf011c0d4
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