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维生素D受体基因多态性与中国汉族人群拇外翻易感性、手术疗效及预后的关系

Relationship of vitamin D receptor gene polymorphisms with susceptibility, surgical outcome and prognosis of hallux valgus in a Chinese Han population.

作者信息

Tao Tianqi, Jiang Yiqiu, Li Wang, Li Yang, Du Jing, Gui Jianchao

机构信息

Orthopedics Laboratory of Nanjing First Hospital, Nanjing Medical University, Nanjing, Jiangsu Province, China.

Department of Orthopedics, Nanjing First Hospital, Nanjing Medical University, Nanjing, Jiangsu Province, China.

出版信息

Foot Ankle Surg. 2019 Apr;25(2):198-203. doi: 10.1016/j.fas.2017.10.010. Epub 2017 Oct 28.

Abstract

BACKGROUND

This study aimed to identify the relationship between the vitamin D receptor (VDR) BsmI gene polymorphism and risk factors, surgical outcome and prognosis of hallux valgus (HV).

METHODS

A case-control study was performed on a cohort of 236 HV patients and 236 controls in a Chinese Han population. Detection of the VDR BsmI/G2A polymorphism was performed using restriction fragment length polymorphism-polymerase chain reaction.

RESULTS

We detected a statistically significant difference in the allele distribution of the BsmI polymorphism between cases and controls (p<0.01). Significant loss of hallux valgus angle (HVA) and intermetatarsal angle (IMA) correction was only noted in patients with the bb genotype during the 2-year follow-up period (p<0.01). The average American Orthopaedic Foot and Ankle Society (AOFAS) scores at the 2-year follow-up were decreased in both groups when compared with those at the 6 month follow-up, and 1.45 points more decrease in patients with the bb genotype was observed as compared to those with the BB and Bb genotypes (p<0.0001). The average visual analogue scales (VAS) also had the tendency with more pains in the bb genotype group (p<0.0001). Furthermore, larger numbers of transfer metatarsalgia were found in patients with the bb genotype upon 2-year follow-up (p=0.049).

CONCLUSIONS

We report the first candidate gene polymorphism associated with susceptibility, surgical outcome and prognosis of HV in a Chinese Han population. Moreover, development of genetically-based method to predict the surgical outcome accurately and individualized therapy for HV are warranted.

摘要

背景

本研究旨在确定维生素D受体(VDR)BsmI基因多态性与拇外翻(HV)的危险因素、手术结果及预后之间的关系。

方法

对一组236例汉族拇外翻患者和236例对照者进行病例对照研究。采用限制性片段长度多态性聚合酶链反应检测VDR BsmI/G2A多态性。

结果

病例组与对照组BsmI多态性等位基因分布差异有统计学意义(p<0.01)。在2年随访期内,仅bb基因型患者的拇外翻角(HVA)和跖间角(IMA)矫正明显丢失(p<0.01)。与6个月随访时相比,两组在2年随访时美国矫形足踝协会(AOFAS)平均评分均降低,且bb基因型患者比BB和Bb基因型患者平均降低1.45分(p<0.0001)。视觉模拟评分(VAS)平均值在bb基因型组也有疼痛更明显的趋势(p<0.0001)。此外,2年随访时bb基因型患者转移性跖骨痛的发生率更高(p=0.049)。

结论

我们首次报道了汉族人群中与拇外翻易感性、手术结果及预后相关的候选基因多态性。此外,有必要开发基于基因的方法来准确预测手术结果并对拇外翻进行个体化治疗。

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