XbaI and PvuII Polymorphisms of Estrogen Receptor 1 Gene in Females with Idiopathic Scoliosis: No Association with Occurrence or Clinical FormReportar como inadecuado




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Introduction

XbaI single nucleotide polymorphism SNP A-G rs934099 in estrogen receptor 1 gene ESR1 was described to be associated with curve severity in Japanese idiopathic scoliosis IS patients and in Chinese patients with both curve severity and predisposition to IS. PvuII SNP C-T rs2234693 of ESR1 was described to be associated with the occurrence of IS in the Chinese population; however, two replication studies did not confirm the findings. The ESR1 SNPs have never been studied in Caucasian IS patients.

Methods

Case-control study. 287 females with IS underwent clinical, radiological and genetic examinations. The patients were divided into three groups according to curve progression velocity: non-progressive IS, slowly progressive IS progression <1° per month, and rapidly progressive IS progression ≥1° per month. The radiological maximum Cobb angle was measured and surgery rate established. A control group consisted of 182 healthy females.

Results

All results followed Hardy-Weinberg equilibrium. In the case-control study, genotype frequency in the patients did not differ for the XbaI AA = 33.5%, AG = 49.1%, GG = 17.4%, nor for the PvuII TT = 26.8%, TC = 50.2%, CC = 23.0% comparing to controls AA = 33.5%, AG = 50.5%, GG = 15.9% and TT = 23.1%, TC = 51.1%, CC = 25.8%, respectively, p = 0.3685, p = 0.6046. The haplotype frequency for the patients AT = 47.1%, GC = 39.2%, AC = 8.9%, GT = 2.8% did not differ from the controls AT = 44.8%, GC = 37.4%, AC = 14.0%, GT = 3.8%, p = 0.0645. No difference was found either in XbaI p = 0.8671 or PvuII p = 0.3601 allele distribution between the patients and the controls. In the case study, there was no significant difference in genotype frequency for the non-progressive, slowly progressive, and rapidly progressive scoliosis. No difference was found in genotype or haplotype distribution for the mean maximum Cobb angle or the surgery rate.

Conclusions

No association was found between ESR1 XbaI or ESR1 PvuII SNP and idiopathic scoliosis in Caucasian females. None of the previously reported associations could be confirmed, regarding curve severity, progression or operation rate.



Autor: Piotr Janusz , Tomasz Kotwicki, Miroslaw Andrusiewicz, Malgorzata Kotwicka

Fuente: http://plos.srce.hr/



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