Wang Hui, Liu Yan-Yan, Zhang Yu, Chen Xiao-Li, Shi Lin
Peking Union Medical College/Chinese Academy of Medical Sciences/Capital Institute of Pediatrics, Beijing 100020, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2022 May 15;24(5):579-584. doi: 10.7499/j.issn.1008-8830.2112037.
To study the distribution characteristics of methylenetetrahydrofolate reductase () C677T gene polymorphism in children with primary hypertension, and to explore the association between C677T gene polymorphism and H-type hypertension in children.
A total of 121 children with primary hypertension who were hospitalized in the department of cardiovascular medicine from January to July 2021, newly diagnosed, and untreated were retrospectively selected as the subjects. The children were divided into three groups: CC genotype (19 children), CT genotype (51 children), and TT genotype (51 children). According to the serum homocysteine (Hcy) level, they were divided two groups: H-type hypertension (47 children) and simple hypertension (74 children). The medical data were compared between the groups. The association between C677T gene polymorphism and H-type hypertension was evaluated.
The mutation frequency of T allele in children with primary hypertension was significantly higher than that in healthy adults in Beijing and Chinese Han adults (<0.001). The serum Hcy level in the TT genotype group was significantly higher than that in the CC and CT genotype groups (<0.001). The serum Hcy level in the H-type hypertension group was significantly higher than that in the simple hypertension group (<0.001), and C677T was mostly TT genotype, which was associated with the risk of H-type hypertension (=12.71, <0.001). There was no significant difference in the incidence rate of target organ damage between the H-type hypertension and simple hypertension groups (>0.05). However, multiple organ involvement was observed in the H-type hypertension group at diagnosis, accounting for 11% (5/47).
The mutation rate of C677T T allele in children with primary hypertension is high and associated with the serum Hcy level. TT genotype is an independent risk factor for H-type hypertension in children, and it may be related to the severity of early target organ damage.
研究亚甲基四氢叶酸还原酶（MTHFR）C677T基因多态性在儿童原发性高血压中的分布特征，探讨MTHFR C677T基因多态性与儿童H型高血压的关系。
回顾性选取2021年1月至7月在心血管内科住院的121例新诊断且未治疗的原发性高血压患儿作为研究对象。将患儿分为三组：CC基因型（19例）、CT基因型（51例）和TT基因型（51例）。根据血清同型半胱氨酸（Hcy）水平分为两组：H型高血压组（47例）和单纯高血压组（74例）。比较各组的医学数据。评估MTHFR C677T基因多态性与H型高血压的关系。
原发性高血压患儿T等位基因的突变频率显著高于北京健康成年人及中国汉族成年人（P<0.001）。TT基因型组的血清Hcy水平显著高于CC和CT基因型组（P<0.001）。H型高血压组的血清Hcy水平显著高于单纯高血压组（P<0.001），且MTHFR C677T大多为TT基因型，与H型高血压风险相关（OR=12.71，P<0.001）。H型高血压组与单纯高血压组的靶器官损害发生率无显著差异（P>0.05）。然而，H型高血压组在诊断时观察到多器官受累，占11%（5/47）。
原发性高血压患儿MTHFR C677T T等位基因突变率高，且与血清Hcy水平相关。TT基因型是儿童H型高血压的独立危险因素，可能与早期靶器官损害的严重程度有关。
