Study Of Fbn3 Gene Polymorphisms In Adolescent Idiopathic Scoliosis Patients

PartⅠAnalysis of FBN3 Gene Polymorphism of Han Chinese Adolescent in Jiangsu ProvinceObjective To investigate the distribution of four loci gene polymorphism of FBN3 of Han Chinese adolescent in Jiangsu Province. Methods Polymorphism chain reaction-restriction fragment length polymorphism (PCR-RELP) was used to detect and analyze 287 healthy adolescent subjects, which was compared with other population.Result Among 287 subjects only genotype GG was detected in 50 healthy adolescents In rs35277492(BsrFI). In rs35579498(MspI) the frequencies of genotypes CC,CT,TT are 176(64.47%),91(33.33%) and 6(2.20%); in rs12608849(MseI): the frequencies of genotypes CC,CT,TT are 85(29.62%),133(46.34%) and 69(24.04%), and in rs7257948(NLAⅢ): the frequencies of genotypes GG,GT,TT are 101(38.11%), 118(44.53%), 46(17.36%),respectively. And the distribution of FBN3 gene polymorphisms were similar between female and male subjects. However, there was significant difference between the Han population and other races, such as African American and Japanese.Conclusion The distribution of FBN3 gene polymorphisms are similar between female and male subjects, and is similar to other region in china,but is significantly different between Chinese and Japanese or African American. PartⅡStudy of FBN3 gene polymorphisms in adolescent idiopathic scoliosis patientsObjective To investigate the association of FBN3 gene polymorphism with abnormal growth pattern in adolescent idiopathic scoliosis(AIS) patients.Methods Blood samples were obtained from 273 AIS patients and 287 healthy adolesents. Anthropometric parameters of AIS group including age, body height, weight, arm span , Cobb angle, time of menarche and riser sign were recorded. Polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP) technique was used to detect and analyze FBN3 gene distribution of AIS group and control group.Results The genotype and allele frequency distribution were comparable between AIS and normal control. There was no association with curve severity, arm span, BMI in patients with AIS. In rs7257948, the expression of GG in patients whose body height was≥160 cm was higher than those whose body height was<160 cm(P=0.01). In rs35579498, the frequency of allele T was relatively higher in AIS patients compared with control subjects(P=0.051). In AIS patients, the expression of CT genotype in patients whose menarche age was≥12 years was higher than those whose menarche was<12 years (P=0.042).Conclusion The polymorphisms of 4 SNPs in the exons of FBN3 gene were neither associated with the occurrence nor the curve severity of AIS. However, in rs35579498, T allele appeared to be overrepresented in patients compared with controls(P=0.051). And mutation in this site maybe play some role in the occurrence and progression of AIS patients, and in rs7257948, polymorphism of FBN3 gene may associate with body height with AIS.