A Replication Study for Association of LBX1 Locus With Adolescent Idiopathic Scoliosis in French–Canadian Population

Abstract

3.

Idiopathic Scoliosis Families Highlight Actin-Based and Microtubule-Based Cellular Projections and Extracellular Matrix in Disease Etiology

“…Several genome-wide association studies (GWAS) in different ethnic populations have identified potential genes and regions of interest ( Sharma et al 2011 ; Takahashi et al 2011 ; Kou et al 2013 ; Miyake et al 2013 ; Ogura et al 2015 ; Zhu et al 2015 ; Sharma et al 2015 ; Chettier et al 2015 ; Zhu et al 2017 ; Ogura et al 2017 ). Both the LBX1 ( Takahashi et al 2011 ; Fan et al 2012 ; Jiang et al 2013 ; Gao et al 2013 ; Londono et al 2014 ; Chettier et al 2015 ; Grauers et al 2015 ; Zhu et al 2015 ; Guo et al 2016 ; Cao et al 2016 ; Liu et al 2017 ; Nada et al 2018 ) and GPR126 ( Kou et al 2013 ; Xu et al 2015 ; Karner et al 2015 ; Qin et al 2017 ) genes have been associated with IS in multiple studies. LBX1 is a transcription factor and core regulator of myoblast development ( Masselink et al 2017 ), while GPR126 functions within Schwann cells to control differentiation and myelination ( Mogha et al 2013 ).…”

Association between ladybird homeobox 1 gene polymorphisms and adolescent idiopathic scoliosis

“…Based on ROBINS-I, 8 studies [6–11,13,15] were rated as moderate RoB, and 2 studies [12,14] were deemed to have serious RoB. None of the studies received the critical RoB rating.…”

“…Subsequently, a number of studies were investigated the association between LBX1 genotypes and the risk of AIS. [7–15] However, the results are inconclusive. Three meta-analyses have been conducted on this topic.…”

“…A number of studies were undertaken to replicate these findings in multiple independent populations. [7–15] Two systematic reviews confirmed that LBX1 gene polymorphisms were the susceptibility loci for AIS in Asian populations. [16,17] With more new studies involving non-Asian populations, [10–12,15] updated evidence is necessary.…”

“…[7–15] Two systematic reviews confirmed that LBX1 gene polymorphisms were the susceptibility loci for AIS in Asian populations. [16,17] With more new studies involving non-Asian populations, [10–12,15] updated evidence is necessary. Therefore, we performed a meta-analysis of the published case-control studies to validate the association between LBX1 gene polymorphisms and AIS risk in Asian and Caucasian populations, and to examine this association by odds ratios (OR) and 95% confidential intervals (CI).…”