Dataset Information

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

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.

SUBMITTER: Moon ES

PROVIDER: S-EPMC3575984 | biostudies-literature | 2013 Mar

REPOSITORIES: biostudies-literature

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

Moon Eun Su ES Kim Hak Sun HS Sharma Veushj V Park Jin Oh JO Lee Hwan Mo HM Moon Sung Hwan SH Chong Hyon Su HS

Yonsei medical journal 20130301 2

<h4>Purpose</h4>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 sin ...[more]

PMID: 23364988

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Project description:ObjectiveTo analyze the correlation between the polymorphism on interleukin 6 (IL-6) gene promoter region-174 locus and adolescent idiopathic scoliosis (AIS), including the susceptibility, the bracing effectiveness, and the possible mechanism.MethodsThe 182 AIS patients and 210 healthy controls who met the inclusion criteria between January 2013 and January 2016 were collected as research objects. The genotype of IL-6 gene promoter region-174 locus, the serum IL-6, the bone mineral density (BMD) of femoral neck and vertebrae (L 1-4), and the bone metabolism parameters, including bone alkaline phosphatase (BALP), bone gla protein (BGP), tartrate resistant acid phosphatase 5b (TRACP-5b), urine Ca, and urine Ca/Cr, were detected. All research objects were divided into the AIS group and the control group according to whether they had AIS, the GG, CG, CC groups according to their genotype, and progression-free group and progression group according to the therapeutic effectiveness of 1-year bracing treatment. Statistical analysis for the indexes were conducted respectively.ResultsThere were significant differences in AIS history, BMD of femoral neck and lumbar vertebrae between the AIS group and control group ( P<0.05). According to the therapeutic effecitveness of 1-year bracing treatment, 182 AIS patients were divided into progression-free group in 110 cases and progression group in 72 cases. The results of single factor analysis showed that there were significant differences in the genotype and allele distribution of IL-6 gene promoter region-174 locus, BMD of femoral neck and lumbar vertebrae, IL-6, TRACP-5b, urine Ca, and urine Ca/Cr between the progression-free group and progression group ( P<0.05). The results of multivariable analysis showed that the BMD of lumbar vertebrae, TRACP-5b, and urine Ca were the influencing factors of bracing efficacy ( P<0.05). According to the results of genotype detection, all research objects were divided into GG group in 264 cases, CG group in 104 cases, and CC group in 24 cases. The IL-6, TRACP-5b, urine Ca, and urine Ca/Cr of GG type carriers were higher and BMD of femoral neck and lumbar vertebrae were lower when compared with the CG and CC type carriers ( P<0.05). The BMD of lumbar vertebrae of CG type carriers was lower than that of CC type carriers ( P<0.05).ConclusionThe polymorphism of IL-6 genepromoter region-174 locus wasn't correlated with the AIS susceptibility, but it was correlated (not independently correlated) with the scoliosis progression under bracing treatment, and the risk for G-carried patients was higher. The mechanism may be that the polymorphism affected the IL-6 expression level and eventually affected the BMD of AIS patients through the bone metabolism.

Project description:Objective: To explore the effect of PITX2 gene rs6843082 single nucleotide polymorphism on the efficacy and adverse reactions of warfarin in patients with atrial fibrillation and hypertension, and to provide a theoretical basis for individualized warfarin treatment.Methods: Data on 97 patients with atrial fibrillation and hypertension treated in our hospital were collected from September, 2018 to December, 2019. PCR and SNP genotyping techniques were used to measure the genotype at the rs6843082 locus (pituitary homeobox 2, PITX2) using DNA from the peripheral blood cells of all patients. We compared the efficacy of warfarin and the incidence of adverse reactions in patients of different genotypes.Results: (1) Among 97 subjects, 58 cases (59.79%), 32 cases (32.99%) and 7 cases (7.22%) of PITX2 (rs6843082) genotypes GG, GA and AA were identified respectively. The G and A allele frequencies were 76.29% and 23.71%, respectively. (2) After all patients took warfarin to achieve the standard, the GA group and AA group's time to achieve the standard was significantly longer than that of the GG group (P<0.05). The difference was not statistically significant among groups (P>0.05). Compared with the GG group, the maintenance dose of the AA group was increased (P<0.05). (3) Compared with the GG and the GA group, the probability of bleeding events was higher in the AA group (P<0.05). (4) There was no difference in left ventricular end diastolic volume (LVEDV) and left ventricular end systolic volume (LVESV) group among GG, GA and AA groups (P>0.05). Compared with the GG group, left ventricular ejection fraction (LVEF) of the AA group was significantly reduced (P<0.05). (5) The mortality rates of the GG, GA, and AA groups were 15.51%, 12.50% and 22.57%, respectively, at the end of 120 d follow-up.Conclusion: Our findings show that rs6843082 SNP leads to the warfarin dose response differences that were observed in patients with atrial fibrillation and hypertension. Genotyping patients for rs6843082 before initiating warfarin treatment may optimize the treatment response and reduce bleeding incidence.

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

Publications

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

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