A meta-analysis identifies adolescent idiopathic scoliosis association with LBX1 locus in multiple ethnic groups

Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity, affecting > 30 million children worldwide. Children usually develop AIS around the time of the adolescent growth spurt, and girls are at greater risk of severe deformity requiring treatment. Until recently the causes of AIS have remained unknown. In 2011 a genome-wide association study (GWAS) in Japanese patients identified genetic markers near the LBX1 gene as risk factors for AIS. In this new study coordinated through the International Consortium for Scoliosis Genetics (ICSG), we demonstrate that the LBX1 locus is strongly associated with AIS in multiple ethnic populations (Japanese, Chinese, and non-Hispanic white), and that it is probably relevant in boys as well as girls. LBX1 is a regulator of other genes and may participate in AIS by effects on muscle and nerve development. (By Dr. Carol Wise, http://jmg.bmj.com/content/early/2014/04/10/jmedgenet-2013-102067 )