Kuo Chien-Chung, Tsai Chun-Hao, Chuang Fu-Kai, Wang Yun-Chi, Mong Mei-Chin, Yang Ya-Chen, Shih Hou-Yu, Hsu Shih-Wei, Chang Wen-Shin, Bau DA-Tian, Tsai Chia-Wen
Department of Orthopedics, China Medical University Hospital, Taichung, Taiwan, R.O.C.
Department of Orthopedics, School of Medicine, China Medical University, Taichung, Taiwan, R.O.C.
In Vivo. 2025 Jan-Feb;39(1):172-179. doi: 10.21873/invivo.13815.
BACKGROUND/AIM: Hallux valgus (HV) is the most common deformity of the forefoot. Although HV has been strongly associated with a family history, its genetic underpinnings remain unclear. Few studies have examined the relationship between folic acid metabolism, which is critical in normal bone development, and HV. The study aimed to investigate the contribution of methylenetetrahydrofolate reductase (MTHFR) genotypes to the risk of HV.
The MTHFR rs1801133 and rs1801131 genotypes were analyzed in 150 patients with HV and 600 controls without HV, using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
The results highlighted a significant difference in the genotypic frequency distributions of MTHFR rs1801133 between the HV cases and non-HV controls (p for trend=0.0024). Specifically, individuals with the homozygous TT genotype at MTHFR rs1801133 exhibited a 2.57-fold increased risk of HV (95% confidence interval=1.49-4.42, p=0.0009). However, those with the CT genotype did not show an elevated risk. Stratified analysis showed no correlation between MTHFR rs1801133 genotypic distributions and different age groups (below or above 51 years) or sex (both p>0.05). Furthermore, no associations were identified between MTHFR rs1801133 and height, weight, or body mass index in relation to HV risk.
The TT genotype of MTHFR rs1801133 is associated with an increased risk of HV. Subgrouping HV patients based on their MTHFR genotypes and related comorbidities, such as rheumatoid arthritis, may offer a new approach to diagnosis.
背景/目的:拇外翻(HV)是前足最常见的畸形。尽管HV与家族病史密切相关,但其遗传基础仍不清楚。很少有研究探讨在正常骨骼发育中起关键作用的叶酸代谢与HV之间的关系。本研究旨在调查亚甲基四氢叶酸还原酶(MTHFR)基因型对HV风险的影响。
采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术,对150例HV患者和600例无HV的对照者的MTHFR rs1801133和rs1801131基因型进行分析。
结果显示,HV病例与非HV对照者之间MTHFR rs1801133的基因型频率分布存在显著差异(趋势p=0.0024)。具体而言,MTHFR rs1801133纯合子TT基因型个体患HV的风险增加2.57倍(95%置信区间=1.49-4.42,p=0.0009)。然而,CT基因型个体未显示出风险升高。分层分析表明,MTHFR rs1801133基因型分布与不同年龄组(51岁以下或以上)或性别之间均无相关性(p均>0.05)。此外,未发现MTHFR rs1801133与身高、体重或体重指数与HV风险之间存在关联。
MTHFR rs1801133的TT基因型与HV风险增加有关。根据HV患者的MTHFR基因型和相关合并症(如类风湿性关节炎)进行亚组划分,可能为诊断提供一种新方法。