Article
A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis.
Human molecular genetics - 1 Jan 2016
Haller Gabe, Alvarado David, Mccall Kevin, Yang Ping, Cruchaga Carlos, Harms Matthew, Goate Alison, Willing Marcia, Morcuende Jose A, Baschal Erin, Miller Nancy H, Wise Carol, Dobbs Matthew B, Gurnett Christina A
Abstract excerpt
Adolescent idiopathic scoliosis (AIS) is a complex inherited spinal deformity whose etiology has been elusive. While common genetic variants are associated with AIS, they explain only a small portion of disease risk. To explore the role of rare variants in AIS susceptibility, exome sequence data of 391 severe AIS cases and 843 controls of European ancestry were analyzed using a pathway burden analysis in which...
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