Zhu et al. New susceptibility loci for adolescent idiopathic scoliosis

IBMS BoneKEy ◽  
2016 ◽  
Vol 13 ◽  
pp. 781
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Susceptibility Loci

scholarly journals Genome-wide meta-analysis and replication studies in multiple ethnicities identify novel adolescent idiopathic scoliosis susceptibility loci

2018 ◽  
Vol 27 (22) ◽  
pp. 3986-3998 ◽  
Author(s):  
Anas M Khanshour ◽  
Ikuyo Kou ◽  
Yanhui Fan ◽  
Elisabet Einarsdottir ◽  
Nadja Makki ◽  
...  
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Meta Analysis ◽  
Susceptibility Loci ◽  
Replication Studies ◽  
Genome Wide

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

2021 ◽  
Vol 11 ◽  
Author(s):  
Ming Luo ◽  
Yuxiao Zhang ◽  
Shishu Huang ◽  
Yueming Song
Keyword(s):  
Cell Migration ◽  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Progenitor Cell ◽  
Association Studies ◽  
Susceptibility Loci ◽  
Promising Candidate ◽  
Ethnic Populations ◽  
Genome Wide ◽  
Muscle Progenitor Cell

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.

scholarly journals Rare coding variants in axonemal dynein heavy chain genes are associated with adolescent idiopathic scoliosis

2020 ◽  
Author(s):  
Yunjia Wang ◽  
Zhenhao Liu ◽  
Guanteng Yang ◽  
Benjamin Troutwine ◽  
Yang Gao ◽  
...  
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Heavy Chain ◽  
Healthy Children ◽  
Susceptibility Loci ◽  
Genetic Studies ◽  
Whole Exome ◽  
Axonemal Dynein ◽  
Ependymal Cilia ◽  
Coding Variants

Abstract Adolescent idiopathic scoliosis (AIS) is the most common pediatric musculoskeletal disorder worldwide, characterized by atypical spine curvatures in otherwise healthy children. Human genetic studies have identified candidate genes associated with AIS, however, only a few of these genes have been shown to recapitulate adult-viable scoliosis in animal models. To further define susceptibility loci for AIS, we performed whole exome sequencing on a cohort of 195 Han Chinese AIS patients and 229 healthy controls. We identified members of the axonemal dynein family associated with both sporadic and familial AIS. We demonstrate that disruption of the dynein axonemal heavy chain 10 (dnah10) gene results in recessive adult-viable scoliosis in zebrafish. These dnah10 mutant zebrafish display reduced ependymal cilia beating and a disassembly of the Reissner fiber in the hindbrain and spinal canal, concurrent with the onset of body curvatures. Altogther, these results demonstrate that mutations in axonemal dynein genes are linked with human AIS and suggest that ependymal cell cilia function plays an essential role in maintaining spine alignment in humans.

Association between bone turnover markers and leptin in girls with adolescent idiopathic scoliosis (AIS)

2016 ◽  
Author(s):  
Edyta Matusik ◽  
Jacek Durmala ◽  
Magdalena Olszanecka-Glinianowicz ◽  
Jerzy Chudek ◽  
Pawel Matusik
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Bone Turnover ◽  
Bone Turnover Markers ◽  
Turnover Markers

Vibration treatment can enhance the bioactive response of osteoblasts to vitamin D in adolescent idiopathic scoliosis patients

2015 ◽  
Author(s):  
Jiajun Zhang ◽  
WayneY W Lee ◽  
Benlong Shi ◽  
Elisa M S Tam ◽  
Huanxiong Chen ◽  
...  
Keyword(s):  
Vitamin D ◽  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Vibration Treatment

Scoliometer Is Effective in Screening Obese Children for Adolescent Idiopathic Scoliosis (AIS)

2017 ◽  
Author(s):  
Gideon W Blumstein ◽  
Lindsay Andras ◽  
Austin E. Sanders ◽  
Alexander Broom ◽  
Paul D. Choi ◽  
...  
Keyword(s):  
Adolescent Idiopathic Scoliosis ◽  
Idiopathic Scoliosis ◽  
Obese Children
Sign in / Sign up

Export Citation Format

Share Document