Abstract
BackgroundThe age at menarche (AAM) is commonly in use in patients with IS as one of the maturity indicator suggesting deceleration of the growth velocity. The AAM was suggested to be related to predisposition and curve progression potential of IS. The late age at menarche was reported to be associated with higher prevalence of adolescent idiopathic scoliosis. The age at menarche is determined by both genetic and environmental factors as well as their interactions. Estrogen receptors 1 and 2 polymorphism were reported to be associated with AAM: in ESR1 XbaI and PvuII site polymorphism and in ESR2 AluI site polymorphism.The purpose of the study was to investigate associations of the ESR1 and ESR2 polymorphisms with AAM in IS patients and to evaluate association of AAM with IS severity.Methods208 females with IS Caucasian females from Central Europe underwent clinical, radiological and genetic examinations. Four SNPs were selected XbaI (A/Grs9340799) and PvuII (C/T rs2234693) in ESR1 and AluI (A/G rs4986938) and RasI (A/G rs1256049) in ESR2. Samples were analyzed with polymerase chain reaction followed by restriction fragments length polymorphism analysis (PCR-RFLP). The age of a menarche was established during personal interview with the patients and in case of children with their parents. The Cobb angle was measured.ResultsAll genotypes followed HWE. Mean AAM for patients was 154.8 ± 14.7 months (12.9 ± 1.2 years). The earliest AAM was 121 and latest 192 months. There was no statistically significant difference between AAM mean values in each genotype, for the XbaI, PvuII, AluI and RsaI site polymorphisms the p values were p = 0.7141, p = 0.9774, p = 0.7973 and p = 0.2282, respectively. Patients divided according to Cobb into mild (<30°), moderate (30°-49°) or severe (≥50°) IS revealed tendency to delay AAM: 151.9 ± 14.7; 155.2 ± 14.8 and 157.9 ± 14.0 months, respectively. There was statistical significant difference between patients with mild <30° and severe ≥50° IS, p = 0.0267.ConclusionsIn IS patients estrogen receptors polymorphisms did not show association with the AAM. Patients with severe IS form revealed delayed AAM than patients with mild IS form.Electronic supplementary materialThe online version of this article (doi:10.1186/1471-2474-15-383) contains supplementary material, which is available to authorized users.
Highlights
The age at menarche (AAM) is commonly in use in patients with Idiopathic scoliosis (IS) as one of the maturity indicator suggesting deceleration of the growth velocity
The AAM was suggested to be related to predisposition to IS and to curve progression potential [5]
Examples of PCR products and Restriction Fragments Length Polymorphism (RFLP) products electrophoresis is shown in Figures 1 and 2, respectively
Summary
The age at menarche (AAM) is commonly in use in patients with IS as one of the maturity indicator suggesting deceleration of the growth velocity. The late age at menarche was reported to be associated with higher prevalence of adolescent idiopathic scoliosis. Idiopathic scoliosis (IS) is one of the most common spinal diseases in adolescence, affecting 1-3% of adolescent population [1] This is a three dimensional spine deformity of unknown etiology, consisting of a side curve combined with sagittal plane deviation and axial rotation of vertebrae [1]. The age at menarche (AAM) is commonly in use in IS patients as one of the maturity indicators suggesting deceleration of the spine growth velocity [3] and decreased risk of curve progression [4]. The mean age of menarche of IS patients in comparison to healthy population was reported as early, normal, or delayed [5,6,7]
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