Analysis of Single Nucleotide Polymorphism in Adolescent Idiopathic Scoliosis in Korea: For Personalized Treatment
Yonsei Medical Journal
;
: 500-509, 2013.
Article
Dans Anglais
| WPRIM
| ID: wpr-149919
ABSTRACT
PURPOSE:
The incidence of adolescent idiopathic scoliosis (AIS) has rapidly increased, and with it, physician consultations and expenditures (about one and a half times) in the last 5 years. Recent etiological studies reveal that AIS is a complex genetic disorder that results from the interaction of multiple gene loci and the environment. For personalized treatment of AIS, a tool that can accurately measure the progression of Cobb's angle would be of great use. Gene analysis utilizing single nucleotide polymorphism (SNP) has been developed as a diagnostic tool for use in Caucasians but not Koreans. Therefore, we attempted to reveal AIS-related genes and their relevance in Koreans, exploring the potential use of gene analysis as a diagnostic tool for personalized treatment of AIS therein. MATERIALS ANDMETHODS:
A total of 68 Korean AIS and 35 age- and sex-matched, healthy adolescents were enrolled in this study and were examined for 10 candidate scoliosis gene SNPs.RESULTS:
This study revealed that the SNPs of rs2449539 in lysosomal-associated transmembrane protein 4 beta (LAPTM4B) and rs5742612 in upstream and insulin-like growth factor 1 (IGF1) were associated with both susceptibility to and curve severity in AIS. The results suggested that both LAPTM4B and IGF1 genes were important in AIS predisposition and progression.CONCLUSION:
Thus, on the basis of this study, if more SNPs or candidate genes are studied in a larger population in Korea, personalized treatment of Korean AIS patients might become a possibility.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Scoliose
/
Facteur de croissance IGF-I
/
Protéines oncogènes
/
Évolution de la maladie
/
Prédisposition génétique à une maladie
/
Polymorphisme de nucléotide simple
/
Génotype
/
Corée
/
Protéines membranaires
Limites du sujet:
Adolescent
/
Femelle
/
Humains
/
Mâle
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Yonsei Medical Journal
Année:
2013
Type:
Article
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