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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  ;  Veushj Sharma  ;  Jin Oh Park  ;  Hwan Mo Lee  ;  Sung Hwan Moon  ;  Hyon Su Chong 
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.
Files in This Item:
T201300333.pdf Download
DOI
10.3349/ymj.2013.54.2.500
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Orthopedic Surgery (정형외과학교실)
Yonsei Authors
김학선(Kim, Hak Sun)
문성환(Moon, Seong Hwan)
문은수(Moon, Eun Su)
박진오(Park, Jin Oh)
이환모(Lee, Hwan Mo)
정현수(Chong, Hyon Su)
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URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/86385
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