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BMC Musculoskeletal Disorders

, 15:383

Pathophysiology of musculoskeletal disorders


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.

KeywordsEstrogen receptors polymorphisms Age at menarche Idiopathic scoliosis Electronic supplementary materialThe online version of this article doi:10.1186-1471-2474-15-383 contains supplementary material, which is available to authorized users.

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Autor: Piotr Janusz - Malgorzata Kotwicka - Miroslaw Andrusiewicz - Dariusz Czaprowski - Jaroslaw Czubak - Tomasz Kotwicki


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