Bhatt Rajendra Dev, Karmacharya Biraj Man, Shrestha Archana, Timalsena Dinesh, Madhup Surendra, Shahi Rajesh, Katuwal Nishan, Shrestha Rajeev, Fitzpatrick Annette L, Risal Prabodh
Department of Clinical Biochemistry, Dhulikhel Hospital-Kathmandu University Hospital, Dhulikhel, Nepal.
Department of Public Health, Dhulikhel Hospital, Kathmandu University Hospital, Dhulikhel, Nepal.
BMC Cardiovasc Disord. 2025 Mar 29;25(1):235. doi: 10.1186/s12872-025-04690-z.
The risk of hypertension varies based on ethnicity, environmental factors, and genetic predispositions. Studies have reported a higher risk of cardiovascular diseases (CVD) and hypertension among the Newar ethnic groups in Nepal. However, the genetic analysis for Methylenetetrahydrofolate reductase (MTHFR C677T) gene mutations, serum homocysteine, and high-sensitivity C-reactive protein (hs-CRP) levels across different ethnicities remains unexplored.
Sociodemographic information and baseline data of 489 participants were obtained from the first phase of the Dhulikhel Heart Study. Preserved blood samples were analyzed for MTHFR C677T polymorphism using real-time polymerase chain reaction (TaqMan assay), and serum homocysteine was measured through immunoassay techniques. Descriptive analysis, the Hardy-Weinberg equilibrium test, and multinomial regression were performed.
The prevalence of homozygous mutation (TT) was 19.8% in the Newar group and 12.5% in the Brahmin/Chhetri ethnicity. The highest mean value of homocysteine (19.4 µmol/L) was observed in homozygous participants, followed by the heterozygous mutant group (17.4 µmol/L). A statistically significant association (P = < 0.001) was found between homocysteine levels and blood pressure.
The Dhulikhel Heart Study reveals a significant prevalence of the MTHFR C677T gene mutation among the Newar ethnicity compared to other groups. Elevated levels of homocysteine and high-sensitivity C-reactive protein (hs-CRP) were associated with increased blood pressure.
Not applicable.
高血压风险因种族、环境因素和遗传易感性而异。研究报告称，尼泊尔纽瓦尔族人群患心血管疾病（CVD）和高血压的风险较高。然而，不同种族间亚甲基四氢叶酸还原酶（MTHFR C677T）基因突变、血清同型半胱氨酸和高敏C反应蛋白（hs-CRP）水平的基因分析仍未得到探索。
从杜利凯尔心脏研究的第一阶段获取了489名参与者的社会人口统计学信息和基线数据。使用实时聚合酶链反应（TaqMan检测法）对保存的血样进行MTHFR C677T基因多态性分析，并通过免疫分析技术测量血清同型半胱氨酸。进行了描述性分析、哈迪-温伯格平衡检验和多项回归分析。
纽瓦尔族中纯合突变（TT）的患病率为19.8%，婆罗门/切特里族为12.5%。纯合参与者中观察到同型半胱氨酸的最高平均值（19.4 μmol/L），其次是杂合突变组（17.4 μmol/L）。同型半胱氨酸水平与血压之间存在统计学显著关联（P = < 0.001）。
杜利凯尔心脏研究显示，与其他群体相比，纽瓦尔族中MTHFR C677T基因突变的患病率显著更高。同型半胱氨酸和高敏C反应蛋白（hs-CRP）水平升高与血压升高有关。
不适用。
