特发性脊柱侧凸女性雌激素受体 1 基因 XbaI 和 PvuII 多态性：与发病或临床形式无关。
XbaI and PvuII polymorphisms of estrogen receptor 1 gene in females with idiopathic scoliosis: no association with occurrence or clinical form.
机构信息
Spine Disorders Unit, Department of Pediatric Orthopedics and Traumatology, University of Medical Sciences, Poznan, Poland.
出版信息
PLoS One. 2013 Oct 14;8(10):e76806. doi: 10.1371/journal.pone.0076806. eCollection 2013.
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.
简介
XbaI 单核苷酸多态性（SNP）（A/G rs934099）在雌激素受体 1 基因（ESR1）中被描述为与日本特发性脊柱侧凸（IS）患者的曲线严重程度以及中国患者的曲线严重程度和 IS 易感性相关。ESR1 的 PvuII SNP（C/T rs2234693）被描述为与中国人群中 IS 的发生相关；然而，两项复制研究并未证实这些发现。ESR1SNP 从未在白种人 IS 患者中进行过研究。
方法
病例对照研究。287 名患有 IS 的女性接受了临床、放射学和遗传学检查。根据曲线进展速度将患者分为三组：非进展性 IS、进展缓慢的 IS（进展速度＜1°/月）和进展迅速的 IS（进展速度≥1°/月）。测量放射学最大 Cobb 角并确定手术率。对照组由 182 名健康女性组成。
结果
所有结果均符合哈迪-温伯格平衡。在病例对照研究中，与对照组相比，XbaI（AA=33.5%，AG=49.1%，GG=17.4%）和 PvuII（TT=26.8%，TC=50.2%，CC=23.0%）的基因型频率在患者中没有差异（AA=33.5%，AG=50.5%，GG=15.9%）和（TT=23.1%，TC=51.1%，CC=25.8%），p=0.3685，p=0.6046。患者的单倍型频率（AT=47.1%，GC=39.2%，AC=8.9%，GT=2.8%）与对照组（AT=44.8%，GC=37.4%，AC=14.0%，GT=3.8%）没有差异，p=0.0645。XbaI（p=0.8671）或 PvuII（p=0.3601）等位基因分布在患者和对照组之间也没有差异。在病例研究中，非进展性、进展缓慢和进展迅速的脊柱侧凸患者的基因型频率无显著差异。最大 Cobb 角的基因型或单倍型分布或手术率无差异。
结论
在白种女性中，ESR1 XbaI 或 ESR1 PvuII SNP 与特发性脊柱侧凸之间没有关联。先前报道的关于曲线严重程度、进展或手术率的任何关联均未得到证实。
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