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Analysis of Single Nucleotide Polymorphism in Adolescent Idiopathic Scoliosis in Korea: For Personalized Treatment

Authors
 Eun Su Moon ; Hak Sun Kim ; Hyon Su Chong ; Sung Hwan Moon ; Hwan Mo Lee ; Jin Oh Park ; Veushj Sharma 
Citation
 Yonsei Medical Journal, Vol.54(2) : 500~509, 2013 
Journal Title
 Yonsei Medical Journal 
ISSN
 0513-5796 
Issue Date
2013
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 AND METHODS: 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.
URI
http://ir.ymlib.yonsei.ac.kr/handle/22282913/86385
DOI
10.3349/ymj.2013.54.2.500
Appears in Collections:
1. 연구논문 > 1. College of Medicine > Dept. of Orthopedic Surgery
Yonsei Authors
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