Tao Tianqi, Jiang Yiqiu, Li Wang, Li Yang, Du Jing, Gui Jianchao
Postgraduate, Department of Orthopedics, Nanjing Medical University, Nanjing, Jiangsu Province, China.
Orthopedist, Department of Orthopedics, Nanjing First Hospital, Affiliated with Nanjing Medical University, Nanjing, Jiangsu Province, China.
J Foot Ankle Surg. 2018 Jul-Aug;57(4):753-758. doi: 10.1053/j.jfas.2018.01.007. Epub 2018 Apr 25.
Previous studies have indicated that vitamin D receptor (VDR) TaqI, BsmI, FokI and ApaI gene polymorphisms are associated with the risk of skeletal malformations with inflammation. However, the potential association of VDR gene polymorphisms with the susceptibility to hallux valgus remains unclear. To clarify this association, we compared the genotypes of 228 patients with hallux valgus with those of 200 controls using the Multiplex SNaPshot system. The χ test was used to compare the allele and genotype frequencies between groups, and p ≤ .05 was considered statistically significant. The frequencies of the mutant allele C in TaqI (p= .036; odds ratio [OR] 1.57; 95% confidence interval [CI] 1.03-2.39) and mutant allele A in BsmI (p= .036; OR 1.33; 95% CI 1.02-1.74) were significantly greater in the patients than in the controls. In addition, after adjusting for sex and age, TaqI (p= .047; OR 1.61; 95% CI 1.00-2.58) and BsmI (p= .025; OR 1.67; 95% CI 1.06-2.61) were associated with the risk of hallux valgus through a dominant genetic model. A homozygous genetic model of BsmI was also significantly associated with the risk of hallux valgus (p= .033; OR 1.81; 95% CI 1.05-2.57). However, neither ApaI nor FokI were associated with increased susceptibility. To the best of our knowledge, we have reported for the first time that VDR gene TaqI and BsmI polymorphisms might contribute to the increased risk of hallux valgus in Chinese population.
先前的研究表明，维生素D受体（VDR）TaqI、BsmI、FokI和ApaI基因多态性与伴有炎症的骨骼畸形风险相关。然而，VDR基因多态性与拇外翻易感性之间的潜在关联仍不明确。为了阐明这种关联，我们使用多重SNaPshot系统比较了228例拇外翻患者与200例对照者的基因型。采用χ检验比较两组之间的等位基因和基因型频率，p≤0.05被认为具有统计学意义。患者中TaqI突变等位基因C的频率（p = 0.036；优势比[OR]1.57；95%置信区间[CI]1.03 - 2.39）和BsmI突变等位基因A的频率（p = 0.036；OR 1.33；95% CI 1.02 - 1.74）显著高于对照者。此外，在对性别和年龄进行校正后，TaqI（p = 0.047；OR 1.61；95% CI 1.00 - 2.58）和BsmI（p = 0.025；OR 1.67；95% CI 1.06 - 2.61）通过显性遗传模型与拇外翻风险相关。BsmI的纯合遗传模型也与拇外翻风险显著相关（p = 0.033；OR 1.81；95% CI 1.05 - 2.57）。然而，ApaI和FokI均与易感性增加无关。据我们所知，我们首次报道VDR基因TaqI和BsmI多态性可能会增加中国人群患拇外翻的风险。
