Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, China.
BMC Med Genet. 2012 Aug 16;13:74. doi: 10.1186/1471-2350-13-74.
Plasma level of total homocysteine (tHcy) is negatively correlated with kidney function in general population. However, the causal mechanism of this correlation is poorly understood. The purpose of this study is to investigate the association of methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism, which is a major genetic determinant of the plasma tHcy level, with estimated glomerular filtration rate (eGFR) in Chinese.
A total of 18 814 hypertensive patients (6,914 males, 11,900 females) were included in the study.
Association between the eGFR and MTHFR C677T genotype was examined by sex-specific regression analyses. In males, TT genotype was associated with 1.37 ml/min/1.73 m(2) decrease in eGFR (p = 0.004) and with an increased risk (OR = 1.32, p = 0.008) for the lowest quintile of eGFR after adjusting for age, BMI, and blood pressures. However, such association was not observed in females (p > 0.05). This association suggests MTHFR C677T polymorphism may play a role in the regulation of eGFR in males.
MTHFR 677 T is a risk allele for decreased kidney function in Chinese males, implicating this gene in the pathogenesis of chronic kidney disease (CKD).
一般人群的血浆总同型半胱氨酸(tHcy)水平与肾功能呈负相关。然而,这种相关性的因果机制尚不清楚。本研究的目的是探讨亚甲基四氢叶酸还原酶(MTHFR)C677T 基因多态性与中国人群估算肾小球滤过率(eGFR)的相关性,该基因多态性是血浆 tHcy 水平的主要遗传决定因素。
共纳入 18814 例高血压患者(男性 6914 例,女性 11900 例)。
通过性别特异性回归分析检查 eGFR 与 MTHFR C677T 基因型之间的关联。在男性中,TT 基因型与 eGFR 降低 1.37ml/min/1.73m2(p=0.004)相关,与 eGFR 最低五分位的风险增加(OR=1.32,p=0.008)相关,校正年龄、BMI 和血压后。然而,这种关联在女性中并不明显(p>0.05)。这种关联表明 MTHFR C677T 多态性可能在男性 eGFR 调节中起作用。
MTHFR 677T 是中国男性肾功能下降的风险等位基因,提示该基因参与慢性肾脏病(CKD)的发病机制。