[FBN3 gene polymorphisms in adolescent idiopathic scoliosis patients]

To investigate the association of FBN3 gene polymorphism with abnormal growth pattern in adolescent idiopathic scoliosis (AIS) patients.

Blood samples were obtained from 273 AIS patients, aged (14.6 +/- 2.1) (10 - 18), and 287 healthy age-matched females adolescents. The anthropometric parameters of the AIS group, including age, body height, weight, arm span, Cobb angle, time of menarche, and Risser's sign were recorded. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique was used to detect the FBN3 gene distribution.

The genotype and allele frequency distribution were comparable between the AIS and normal control groups. There was no association with curve severity, arm span, BMI in patients with AIS. In the rs7257948, There were not significant differences in the FBN3 gene polymorphism sites rs35579498, rs12608849, and rs7257948, and allele distribution between these 2 groups. In the AIS group, the patients with GG genotype the number of those whose body height was > or = 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 the AIS patients than in the controls (P = 0.051). In the AIS patients, the expression rate of CT genotype in those whose menarche age was > or = 12 years was significantly higher than those whose menarche was < 12 years (P = 0.042).

The polymorphisms of the 4 SNPs in the exons of FBN3 gene are neither associated with the occurrence nor the curve severity of AIS. However, in rs35579498, T allele appears to be overrepresented in the patients compared with the controls. Mutation in this site my plays a role in the occurrence and progression of AIS, and in rs7257948, polymorphism of FBN3 gene may be associated with body height of the AIS patients.