A missense variant in SLC39A8 is associated with severe idiopathic scoliosis

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)...

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Publicat a:Nat Commun
Autors principals: Haller, Gabe, McCall, Kevin, Jenkitkasemwong, Supak, Sadler, Brooke, Antunes, Lilian, Nikolov, Momchil, Whittle, Julia, Upshaw, Zachary, Shin, Jimann, Baschal, Erin, Cruchaga, Carlos, Harms, Matthew, Raggio, Cathleen, Morcuende, Jose A., Giampietro, Philip, Miller, Nancy H., Wise, Carol, Gray, Ryan S., Solnica-Krezel, Lila, Knutson, Mitchell, Dobbs, Matthew B., Gurnett, Christina A.
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2018
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6177404/
https://ncbi.nlm.nih.gov/pubmed/30301978
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-018-06705-0
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