The value of Matrilin-1 gene (MATN-1) polymorphism on predicting the progression of adolescent idiopathic scoliosis

Abstract

Objective To investigate the value of Matrilin-1 geue polymorphisms for predicting progression of adolescent idiopathic scoliosis (AIS). Methods This study population consisted of 267 patients with AIS which only received observation or surgery. The maximum Cobb angle, age of menarche, curve pattern, height, arm span and body weight were recorded. The rs1149048 polymorphism in promoter of Matrilin1 gene was chosen for genotyping by polymerase chain reaction -restriction fragment length polymorphism (PCR-RFLP) method. Progression to a severe curve was defined per usual clinical criteria (progression to a > 40° Cobb angle in an individual still growing or progression to a >50° Cobb angle in an adult). All AIS patients were categorized by progressive and non-progressive groups. And comparisons of clinical characteristic and genotype distribution between the two groups were analyzed. Results Of the 267 patients, 162 (60.7%) had progression of the curve, and 105 (39.3%) had non-progression of the curve. The mean age was later, and the rate of triple or double thoracic and lumbar curve was higher in progressive group. And there were more genetype of GG in progressive group. The risk factors of curve progression included a delay age of menarche, curve pattern of triple or double thoracic and lumbar curve and genotype of GG of rs1149048. Conclusion Gene polymorphism of Matrilin-1 gene could be used as a predictive index on progression of AIS. Combined with other prognostic factor, the accuracy of predictive value could be largely improved. Key words: Scoliosis; Genes; Polymorphism,genetic; Forecasting