Mabhida Sihle E, Sharma Jyoti R, Apalata Teke, Masilela Charity, Nomatshila Sibusiso, Mabasa Lawrence, Fokkens Hannah, Benjeddou Mongi, Muhamed Babu, Shabalala Samukelisiwe, Johnson Rabia
Biomedical Research and Innovation Platform, SAMRC, Tygerberg, South Africa.
Department of Biotechnology, Faculty of Natural Science, University of the Western Cape, Cape Town, South Africa.
Front Genet. 2022 Jul 22;13:937639. doi: 10.3389/fgene.2022.937639. eCollection 2022.
The current study sought to investigate the association between the methylenetetrahydrofolate reductase () variant (rs1801133) and the risk of developing hypertension (HTN) in an indigenous South African population. A total of 442 participants (hypertensive, = 279 and non-hypertensive, = 163) from the indigenous tribe residing in Mthatha, Eastern Cape (South Africa) were recruited. HTN was defined as a systolic (SBP) and diastolic blood pressure (DBP) of ≥130/80 mmHg following American Heart Association guidelines. The genotyping of (rs1801133) was assessed using MassARRAY System. Thereafter, the association between rs1801133 in various genetic models and HTN was determined by logistic regression model analysis. Furthermore, the interaction between rs1801133 and selected risk factors on HTN was performed using the open-source multifactor dimensionality reduction (MDR). The low frequency of the T allele (5%) was also observed when compared with the C allele (95%) in both cases and controls. After adjusting for confounding factors (gender, smoking status, BMI, and blood glucose levels), there were no significant associations were observed between rs1801133 and the risk of HTN in all genetic models: genotypic (OR 0.75, 95% CI 0.29-1.95, = 0.56), dominant (OR 0.86, 95% CI 0.35-2.16, = 0.75), co-dominant (OR 1.33, 95% CI 0.51-3.48, = 0.55) and allelic (OR 0.80, 95% CI 0.49-1.62, = 0.70) in logistic regression analysis. However, a significant interaction was reported among rs1801133, age, and gender ( < 0.0001) with the risk of HTN. The present study reports on the lack of association between MTHFR (rs1801133) and the risk of HTN in an indigenous South African tribe. However, an interaction between gender, age, and rs1801133 was observed. Thus, future studies with a large sample size are required to further validate these findings.
本研究旨在调查亚甲基四氢叶酸还原酶（MTHFR）基因变异（rs1801133）与南非本土人群患高血压（HTN）风险之间的关联。从居住在南非东开普省姆塔塔的一个本土部落招募了442名参与者（高血压患者279名，非高血压患者163名）。根据美国心脏协会指南，高血压定义为收缩压（SBP）和舒张压（DBP）≥130/80 mmHg。使用MassARRAY系统评估MTHFR（rs1801133）的基因分型。此后，通过逻辑回归模型分析确定rs1801133在各种遗传模型与高血压之间的关联。此外，使用开源多因素降维法（MDR）分析rs1801133与选定的高血压风险因素之间的相互作用。在病例组和对照组中，与C等位基因（95%）相比，T等位基因的频率较低（5%）。在调整混杂因素（性别、吸烟状况、体重指数和血糖水平）后，在所有遗传模型中均未观察到rs1801133与高血压风险之间存在显著关联：基因型（比值比0.75，95%置信区间0.29 - 1.95，P = 0.56）、显性（比值比0.86，95%置信区间0.35 - 2.16，P = 0.75）、共显性（比值比1.33，95%置信区间0.51 - 3.48，P = 0.55）和等位基因（比值比0.80，95%置信区间0.49 - 1.62，P = 0.70）的逻辑回归分析结果。然而，报告显示rs1801133、年龄和性别之间存在显著的相互作用（P < 0.0001），与高血压风险相关。本研究报告了在南非一个本土部落中MTHFR（rs1801133）与高血压风险之间缺乏关联。然而，观察到性别、年龄和rs1801133之间存在相互作用。因此，需要进一步开展大样本量的研究来验证这些发现。
