A missense variant in SLC39A8 is associated with severe idiopathic scoliosis

Abstract excerpt

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 −7 , OR = 2.01, CI = 1.54–2.62). This pleiotropic SNP was...

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