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Abstract：
OBJECTIVE: Hallux valgus (HV) is the most prevalent deformity affecting the forefoot; however, its genetic etiology remains unclear. In the literature, vitamin D receptor (VDR) genotypes have been reported to be associated with the risk of skeletal malformations accompanied by inflammation. This study aimed to examine the hypothesis that VDR genotypes are associated with the risk of HV.
METHODS: The VDR rs731236, rs1544410, rs2228570 and rs7975232 genotypes of 150 HV patients and 600 non-HV subjects were determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methodology and examined regarding their associations with HV risk.
RESULTS: The results showed that none of the genetic frequency distributions of VDR rs731236, rs1544410, rs2228570, or rs7975232 were significant between the HV cases and non-HV controls (p for trend=0.4055, 0.2170, 0.7220, 0.5509, respectively). Additionally, allelic frequency analysis showed that none of the allelic frequencies of VDR rs731236, rs1544410, rs2228570, or rs7975232 were significantly distributed (p=0.2285, 0.1572, 0.9278, and 0.5547, respectively). Furthermore, stratified analysis showed that no correlation was observed between VDR rs731236 and different age groups (either younger or older than 51) or sex (p=0.3953 and p=0.9576). Moreover, no correlation was found between VDR rs731236 genotype and the risk of HV in individuals within subgroups of height, weight, or body mass index (BMI) (p=0.8317, 0.5346, and p=0.8783, respectively).
CONCLUSIONS: VDR rs731236, rs1544410, rs2228570, and rs7975232 may not serve as indicators for a higher risk of HV.
METHODS: The VDR rs731236, rs1544410, rs2228570 and rs7975232 genotypes of 150 HV patients and 600 non-HV subjects were determined using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) methodology and examined regarding their associations with HV risk.
RESULTS: The results showed that none of the genetic frequency distributions of VDR rs731236, rs1544410, rs2228570, or rs7975232 were significant between the HV cases and non-HV controls (p for trend=0.4055, 0.2170, 0.7220, 0.5509, respectively). Additionally, allelic frequency analysis showed that none of the allelic frequencies of VDR rs731236, rs1544410, rs2228570, or rs7975232 were significantly distributed (p=0.2285, 0.1572, 0.9278, and 0.5547, respectively). Furthermore, stratified analysis showed that no correlation was observed between VDR rs731236 and different age groups (either younger or older than 51) or sex (p=0.3953 and p=0.9576). Moreover, no correlation was found between VDR rs731236 genotype and the risk of HV in individuals within subgroups of height, weight, or body mass index (BMI) (p=0.8317, 0.5346, and p=0.8783, respectively).
CONCLUSIONS: VDR rs731236, rs1544410, rs2228570, and rs7975232 may not serve as indicators for a higher risk of HV.
摘要：
目的：哈氏外翻（HV）是影响前足的最普遍的畸形；然而，其遗传病因尚不清楚。在文学中,据报道，维生素D受体（VDR）基因型与伴有炎症的骨骼畸形的风险有关。本研究旨在检验VDR基因型与HV风险相关的假设。
方法：使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法确定了150例HV患者和600例非HV受试者的VDRrs731236，rs1544410，rs2228570和rs7975232基因型，并检查了它们与HV风险的关系。
结果：结果表明，VDRrs731236，rs1544410，rs2228570或rs7975232的遗传频率分布在HV病例和非HV对照之间均不显著（趋势p=0.4055，0.2170，0.7220，0.5509）。此外,等位基因频率分析表明，VDRrs731236，rs1544410，rs2228570或rs7975232的等位基因频率均未显着分布（分别为p=0.2285，0.1572，0.9278和0.5547）。此外，分层分析显示,VDRrs731236与不同年龄组(年龄小于51岁或大于51岁)或性别(p=0.3953和p=0.9576)无相关性.此外，VDRrs731236基因型与身高亚组个体的HV风险之间没有发现相关性，体重,或体重指数（BMI）（分别为p=0.8317、0.346和p=0.8783）。
结论：VDRrs731236、rs1544410、rs2228570和rs7975232可能不能作为高HV风险的指标。
方法：使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）方法确定了150例HV患者和600例非HV受试者的VDRrs731236，rs1544410，rs2228570和rs7975232基因型，并检查了它们与HV风险的关系。
结果：结果表明，VDRrs731236，rs1544410，rs2228570或rs7975232的遗传频率分布在HV病例和非HV对照之间均不显著（趋势p=0.4055，0.2170，0.7220，0.5509）。此外,等位基因频率分析表明，VDRrs731236，rs1544410，rs2228570或rs7975232的等位基因频率均未显着分布（分别为p=0.2285，0.1572，0.9278和0.5547）。此外，分层分析显示,VDRrs731236与不同年龄组(年龄小于51岁或大于51岁)或性别(p=0.3953和p=0.9576)无相关性.此外，VDRrs731236基因型与身高亚组个体的HV风险之间没有发现相关性，体重,或体重指数（BMI）（分别为p=0.8317、0.346和p=0.8783）。
结论：VDRrs731236、rs1544410、rs2228570和rs7975232可能不能作为高HV风险的指标。
