A missense variant in SLC39A8 is associated with severe idiopathic scoliosis
A missense variant in SLC39A8 is associated with severe idiopathic scoliosis
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Author / Creator
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. and Gurnett, Christina A.
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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More information
Scope and Contents
Contents
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
= 1.6...
Alternative Titles
Full title
A missense variant in SLC39A8 is associated with severe idiopathic scoliosis
Authors, Artists and Contributors
Author / Creator
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.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_04b3d3a563384542b1a9a97bf011c0d4
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_04b3d3a563384542b1a9a97bf011c0d4
Other Identifiers
ISSN
2041-1723
E-ISSN
2041-1723
DOI
10.1038/s41467-018-06705-0
