title: Estrogen receptors genes polymorphisms and age at menarche in idiopathic scoliosis.
abstract: BACKGROUND
  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 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.
  
  
  METHODS
  208 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 ESR1and 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.
  
  
  RESULTS
  All 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.
  
  
  CONCLUSIONS
  In 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.
authors.affiliation: Department of Pediatric Orthopedics and Traumatology, Spine Disorders Unit, University of Medical Sciences, Poznan, Poland. mdpjanusz@gmail.com.
authors.forename: Piotr
authors.initials: P
authors.lastname: Janusz
authors.forename: Malgorzata
authors.initials: M
authors.lastname: Kotwicka
authors.forename: Miroslaw
authors.initials: M
authors.lastname: Andrusiewicz
authors.forename: Dariusz
authors.initials: D
authors.lastname: Czaprowski
authors.forename: Jaroslaw
authors.initials: J
authors.lastname: Czubak
authors.forename: Tomasz
authors.initials: T
authors.lastname: Kotwicki
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D047628:Estrogen Receptor alpha / Q000235:genetics*; D047629:Estrogen Receptor beta / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008572:Menarche / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011859:Radiography; D012600:Scoliosis / Q000000981:diagnostic imaging* / Q000235:genetics*; D055815:Young Adult
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha; D047629:Estrogen Receptor beta