Is polymorphism of CALM1 gene or growth hormone receptor gene associated with susceptibility to adolescent idiopathic scoliosis?

To investigate the major effect of the candidate genes, calmodulin 1 (CALM1) and growth hormone receptor (GHR) gene, in mechanism of adolescent idiopathic scoliosis (AIS) and to evaluate the cross-influence between the polymorphism of the candidates genes and risk factors of AIS. Peripheral blood sa...

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Bibliographic Details
Published inZhong hua yi xue za zhi Vol. 87; no. 31; p. 2198
Main Authors Zhuang, Qian-yu, Wu, Zhi-hong, Qiu, Gui-xing
Format Journal Article
LanguageChinese
Published China 21.08.2007
Subjects
Adolescent
Alleles
Calmodulin - genetics
Case-Control Studies
Female
Gene Frequency
Genetic Predisposition to Disease - genetics
Genotype
Humans
Male
Polymorphism, Single Nucleotide
Receptors, Somatotropin - genetics
Scoliosis - genetics
Scoliosis - pathology
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Summary:To investigate the major effect of the candidate genes, calmodulin 1 (CALM1) and growth hormone receptor (GHR) gene, in mechanism of adolescent idiopathic scoliosis (AIS) and to evaluate the cross-influence between the polymorphism of the candidates genes and risk factors of AIS. Peripheral blood samples were collected from 30 AIS patients, 6 boys and 24 girls, aged 15.7, and 30 gender and age-matched controls. Genomic DNA was extracted. PCR amplification and sequencing of the segments containing SNPs chosen from candidate genes were conducted. The SNPs were genotyped then. Statistical analysis was conducted. Questionnaire survey was conducted in terms of the risk factors. (1) The AIS patients had higher corrected standing height and an earlier growth spurt than the controls. (2) The frequencies of CC genotype of CALM1 gene at -16C > T locus and homozygous genotype of GHR gene at exon 10 I526L were significantly higher in the AIS patients than in the controls. (3) The frequencies of SNP03G-05A and SNP03G-05C
ISSN:0376-2491