Association between ladybird homeobox 1 gene polymorphisms and adolescent idiopathic scoliosis

Jiang, Hua; Yang, Qinghua; Liu, Yang; Guan, Yewen; Zhan, Xinli; Xiao, Zengming; Wei, Qingjun

doi:10.1097/md.0000000000016314

Cited by 13 publications

(14 citation statements)

References 24 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The rs11598564 SNP was located in the 3′-flanking region of the LBX1 gene, and it was also repeatable in the Chinese Han population (Gao et al, 2013 ; Liu et al, 2017 ). Two meta-analyses conducted in East Asian populations also confirmed that the G allele of rs625039 was the risk allele in AIS (Cao et al, 2016 ; Jiang et al, 2019 ). The detail information for the association of rs625039 and rs11598564 with AIS susceptibility are shown in Table 2 .…”

Section: The Association Of Variants Near Lbx1 With Ais Susceptibilitmentioning

confidence: 83%

“…Recently, the association with disease onset for rs678741 was successfully replicated in the Chinese population (Man et al, 2019 ). Two meta-analyses conducted in multi-ethnic populations also confirmed this susceptibility locus in AIS, and the A allele of rs678741 was considered the risk allele (Cao et al, 2016 ; Jiang et al, 2019 ).…”

Section: The Association Of Variants Near Lbx1 With Ais Susceptibilitmentioning

confidence: 94%

“…The rs625039 SNP was located in the 5′-flanking region of the LBX1 gene, and two case–control studies successfully replicated the susceptibility locus in the Southern and Northern Chinese Han populations (Gao et al, 2013 ; Liu et al, 2017 ). In addition, two meta-analyses conducted in East Asian populations also confirmed this susceptibility locus in AIS, and the G allele of rs625039 was considered the risk allele (Cao et al, 2016 ; Jiang et al, 2019 ). The rs11598564 SNP was located in the 3′-flanking region of the LBX1 gene, and it was also repeatable in the Chinese Han population (Gao et al, 2013 ; Liu et al, 2017 ).…”

Section: The Association Of Variants Near Lbx1 With Ais Susceptibilitmentioning

confidence: 97%

“…Two other meta-analyses conducted in East Asian populations also confirmed this susceptibility locus in AIS, and the T allele of rs11190870 was considered the risk allele (Chen et al, 2014 ; Liang et al, 2014 ). Recently, two updated meta-analyses identified the robust significant association of rs11190870 in Asian and Caucasian AIS patients (Cao et al, 2016 ; Jiang et al, 2019 ). The detail information for the association of rs11190870 with AIS susceptibility are shown in Table 1 .…”

Section: The Association Of Variants Near Lbx1 With Ais Susceptibilitmentioning

confidence: 99%

“…A functional variant rs678741 encoding an antisense transcript of LBX1 was also reported to be associated with AIS (Zhu et al, 2015 ). Recently, the association between LBX1 gene polymorphisms and AIS was identified in Asian and Caucasian populations with a meta-analysis (Jiang et al, 2019 ). The LBX1 gene specifies distinct neuronal subtypes in the spinal cord and hindbrain, and it is also essential for limb muscle development in vertebrates (Jagla et al, 1995 ; Hernandez-Miranda et al, 2018 ).…”

Section: Introductionmentioning

confidence: 99%

See 4 more Smart Citations

The Susceptibility and Potential Functions of the LBX1 Gene in Adolescent Idiopathic Scoliosis

et al. 2021

View full text Add to dashboard Cite

Genome-wide association studies have identified many susceptibility genes for adolescent idiopathic scoliosis (AIS). However, most of the results are hard to be replicated in multi-ethnic populations. LBX1 is the most promising candidate gene in the etiology of AIS. We aimed to appraise the literature for the association of LBX1 gene polymorphisms with susceptibility and curve progression in AIS. We also reviewed the function of the LBX1 gene in muscle progenitor cell migration and neuronal determination processes. Three susceptibility loci (rs11190870, rs625039, and rs11598564) near the LBX1 gene, as well as another susceptibility locus (rs678741), related to LBX1 regulation, have been successfully verified to have robust associations with AIS in multi-ethnic populations. The LBX1 gene plays an essential role in regulating the migration and proliferation of muscle precursor cells, and it is known to play a role in neuronal determination processes, especially for the fate of somatosensory relay neurons. The LBX1 gene is the most promising candidate gene in AIS susceptibility due to its position and possible functions in muscle progenitor cell migration and neuronal determination processes. The causality between susceptibility loci related to the LBX1 gene and the pathogenesis of AIS deserves to be explored with further integrated genome-wide and epigenome-wide association studies.

show abstract

Section: The Association Of Variants Near Lbx1 With Ais Susceptibilitmentioning

confidence: 83%

Section: The Association Of Variants Near Lbx1 With Ais Susceptibilitmentioning

confidence: 94%

Section: The Association Of Variants Near Lbx1 With Ais Susceptibilitmentioning

confidence: 97%

Section: The Association Of Variants Near Lbx1 With Ais Susceptibilitmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

The Susceptibility and Potential Functions of the LBX1 Gene in Adolescent Idiopathic Scoliosis

et al. 2021

View full text Add to dashboard Cite

show abstract

From genetics to epigenetics to unravel the etiology of adolescent idiopathic scoliosis

Pérez-Machado

Berenguer-Pascual

Bovea-Marco

et al. 2020

Bone

View full text Add to dashboard Cite

The orthopedic characterization of cfap298tm304 mutants validate zebrafish to faithfully model human AIS

Marie-Hardy

Cantaut-Belarif

Pietton

et al. 2021

Sci Rep

View full text Add to dashboard Cite

Cerebrospinal fluid (CSF) circulation relies on the beating of motile cilia projecting in the lumen of the brain and spinal cord cavities Mutations in genes involved in cilia motility disturb cerebrospinal fluid circulation and result in scoliosis-like deformities of the spine in juvenile zebrafish. However, these defects in spine alignment have not been validated with clinical criteria used to diagnose adolescent idiopathic scoliosis (AIS). The aim of this study was to describe, using orthopaedic criteria the spinal deformities of a zebrafish mutant model of AIS targeting a gene involved in cilia polarity and motility, cfap298tm304. The zebrafish mutant line cfap298tm304, exhibiting alteration of CSF flow due to defective cilia motility, was raised to the juvenile stage. The analysis of mutant animals was based on micro-computed tomography (micro-CT), which was conducted in a QUANTUM FX CALIPER, with a 59 µm-30 mm protocol. 63% of the cfap298tm304 zebrafish analyzed presented a three-dimensional deformity of the spine, that was evolutive during the juvenile phase, more frequent in females, with a right convexity, a rotational component and involving at least one dislocation. We confirm here that cfap298tm304 scoliotic individuals display a typical AIS phenotype, with orthopedic criteria mirroring patient’s diagnosis.

show abstract

Association between ladybird homeobox 1 gene polymorphisms and adolescent idiopathic scoliosis

Abstract: Supplemental Digital Content is available in the text

Cited by 13 publications

References 24 publications

The Susceptibility and Potential Functions of the LBX1 Gene in Adolescent Idiopathic Scoliosis

The Susceptibility and Potential Functions of the LBX1 Gene in Adolescent Idiopathic Scoliosis

From genetics to epigenetics to unravel the etiology of adolescent idiopathic scoliosis

The orthopedic characterization of cfap298tm304 mutants validate zebrafish to faithfully model human AIS

Contact Info

Product

Resources

About