Analysis of Single Nucleotide Polymorphism in Adolescent Idiopathic Scoliosis in Korea: For Personalized Treatment.
10.3349/ymj.2013.54.2.500
- Author:
Eun Su MOON
1
;
Hak Sun KIM
;
Veushj SHARMA
;
Jin Oh PARK
;
Hwan Mo LEE
;
Sung Hwan MOON
;
Hyon Su CHONG
Author Information
1. Department of Orthopaedic Surgery, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea. hschong76@naver.com
- Publication Type:Original Article ; Research Support, Non-U.S. Gov't
- Keywords:
Adolescent idiopathic scoliosis;
gene;
single nucleotide polymorphism
- MeSH:
Adolescent;
Disease Progression;
Female;
Genetic Predisposition to Disease;
Genotype;
Humans;
Insulin-Like Growth Factor I/genetics;
Korea;
Male;
Membrane Proteins/genetics;
Oncogene Proteins/genetics;
*Polymorphism, Single Nucleotide;
Scoliosis/*genetics/pathology/radiography
- From:Yonsei Medical Journal
2013;54(2):500-509
- CountryRepublic of Korea
- Language:English
-
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.
