Analysis of single nucleotide polymorphism in adolescent idiopathic scoliosis in Korea: for personalized treatment.
OBJECTIVE
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.


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.


CONCLUSIONS
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.
Department of Orthopaedic Surgery, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-ro, Gangnam-gu, Seoul 135-720, Korea.
Eun Su
ES
Moon
Hak Sun
HS
Kim
Veushj
V
Sharma
Jin Oh
JO
Park
Hwan Mo
HM
Lee
Sung Hwan
SH
Moon
Hyon Su
HS
Chong
D000293:Adolescent; D018450:Disease Progression; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007334:Insulin-Like Growth Factor I / Q000235:genetics; D007723:Korea; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D015513:Oncogene Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology
C583557:IGF1 protein, human; C477083:LAPTM4B protein, human; D008565:Membrane Proteins; D015513:Oncogene Proteins; D007334:Insulin-Like Growth Factor I