Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0700208 (scoliosis)
 8,574 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Three hundred and four girls with adolescent idiopathic scoliosis were investigated to determine if DNA polymorphisms in the vitamin D receptor (VDR), estrogen receptor (BR), and CYP17 gene were related to curve progression of idiopathic scoliosis. The results suggested that XbaJ site polymorphism in the ER gene was associated with curve progression. The Cobb's curve angle with genotype XX and Xx was statistically greater than that with genotype xx. The curve progression risk (approximately 5 degrees) was higher for genotype XX and Xx than for genotype xx. Furthermore, patients with genotype XX and Xx had a higher risk of receiving operative treatment than those with genotype xx. In conclusion, DNA analysis may predict curve progression, although other polymorphisms were not associated with curve severity.
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PMID:Prediction of curve progression in idiopathic scoliosis from gene polymorphic analysis. 1545 1

Low bone mass and osteopenia have been reported in the axial and peripheral skeleton of adolescent idiopathic scoliosis (AIS) patients. Furthermore, several recent studies have shown that gene polymorphisms are related to osteoporosis. However, no study has yet linked polymorphisms in the vitamin D receptor (VDR) gene and bone mass in AIS. Accordingly, the authors examined the association between bone mass and VDR gene polymorphisms in 198 girls diagnosed with AIS. The VDR BsmI (rs1544410), FokI (rs2228670) and Cdx2 (rs11568820) polymorphisms and bone mineral density at the lumbar spine (LSBMD) and femoral neck (FNBMD) were analyzed and compared to their levels in healthy controls. Mean LSBMD and FNBMD in AIS patients were lower than in age- and sex-matched healthy controls (P = 0.0022 and P = 0.0013, respectively). A comparison of genotype frequencies in AIS patients and controls revealed a significant difference for the BsmI polymorphism only (P = 0.0054). Furthermore, a significant association was found between the VDR BsmI polymorphism and LSBMD. In particular, LSBMD in AIS patients with the AA genotype was found to be significantly lower than in patients with the GA (P < 0.05) or GG (P < 0.01) genotypes. However, no significant association was found between LSBMD or FNBMD and the VDR FokI or Cdx2 polymorphisms. These results suggest that the VDR BsmI polymorphism is associated with LSBMD in girls with AIS.
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PMID:Polymorphism in vitamin D receptor is associated with bone mineral density in patients with adolescent idiopathic scoliosis. 2036 40