Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis

The genetic study was conducted on a population of 81 trios, each consistent of a daughter/son affected by idiopathic scoliosis (IS) and both parents. In all trios components, the region of MATN1 gene containing the microsatellite marker was amplified by a polymerase chain reaction. The amplicons were analysed by a DNA sequencer-genotyper. The statistical linkage analysis was performed using the extended transmission/disequilibrium test.Three microsatellite polymorphisms, respectively consisting of 103 bp, 101 bp and 99 bp, were identified. ETDT evidenced a significant preferential transmission for the 103 bp allele (Chi-square = 5.058, df = 1, P = 0.024)The results suggest that the familial idiopathic scoliosis is associated to the MATN1 gene.Adolescent idiopathic scoliosis (IS) is the most common spine deformity arising during childhood, but the etiology of IS remains unknown. A large proportion (75%) of structural scoliosis is clinically classified as idiopathic [1]. Idiopathic scoliosis often appears in several members of the same family, this strongly suggesting a genetic transmission. Clinical studies indicate that approximately 1:4 of the total scoliosis cases and 1:3 of idiopathic scoliosis cases are familial [2]. Also studies on twins showing that concordance of monozygotic twins is greater than that of dizygotic twins [3,4] suggest a genetic basis for the IS. Nevertheless, in addition to genetic traits, a number of other environment-related factors have been described [5] that variously contribute to the final expression/modulation of the phenotype in each single individual case.A series of candidate genes, including FBN1, COL1A1, COL1A2, COL2A1 and elastin genes, have already been examined by linkage studies, with negative results [6,7], and, at present, the particular mode of inheritance of the idiopathic scoliosis still remains unclear. There are conflicting data in the existing literature. Some reports show that the disorder has many of the characteris