• Tomasz Kotwicki, Piotr Janusz, Miroslaw Andrusiewicz, Malgorzata Chmielewska, and Malgorzata Kotwicka.
• *Department of Pediatric Orthopedics and Traumatology, Spine Disorders Unit, and †Department of Cell Biology, University of Medical Sciences, Poznan, Poland.
• Spine. 2014 Dec 15; 39 (26): E1599E1607E1599-607.

Study DesignA genetic association study of estrogen receptor 2 gene (ESR2) polymorphisms in idiopathic scoliosis (IS).ObjectiveTo investigate association of the ESR2 polymorphisms with either predisposition to or progression of IS in Central European population.Summary Of Background DataIn ESR2 the rs1256120 polymorphism was described to be associated with predisposition to and severity of IS in Chinese population. This observation has not been confirmed in Japanese population. The ESR2 rs4986938 and rs1256049 polymorphisms were described to present association with breast cancer, rheumatoid arthritis, and bone mineral density, however the association with IS has not been evaluated.MethodsCase-control study of 248 females with IS and 243 healthy females was performed. Three single-nucleotide polymorphisms were studied using polymerase chain reaction-restriction fragments length polymorphism technique with the restriction enzymes: AlwNI (C/T rs1256120), AluI (A/G rs4986938), and RsaI (A/G rs1256049). The patients' medical history was evaluated, Cobb angle was measured and surgery rate established. The patients were analyzed in 3 subgroups according to curve progression velocity.ResultsNeither the genotypes nor alleles distribution showed significant differences between patients with IS and healthy controls. There was no significant difference in genotype or allele frequency. In the AluI site polymorphism a significant difference in mean Cobb angle between genotypes was found: (AA, 31.9° ± 14.2°; AG, 43.2° ± 17.8°; and GG, 38.9° ± 19.0°), P = 0.002. There was significant difference in genotype distribution between patients with moderate (<40°) versus severe (≥40°) scoliosis, P = 0.0011; the minor allele frequency (AA) in recessive model of penetration was over-represented in patients with Cobb angle below 40°, P = 0.0075, odds ratio = 3.65.ConclusionNo association between ESR2 polymorphism and predisposition to IS was found in Caucasian females. None of the previously reported associations of AlwNI site polymorphism could be confirmed. ESR2 AluI site polymorphism may be associated with curve severity.Level Of EvidenceN/A.

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