Open Access Research article

Methylenetetrahydrofolate reductase C677T polymorphism is associated with estimated glomerular filtration rate in hypertensive Chinese males

Qing Dong1, Genfu Tang2, Mingli He3, Yunqing Cai1, Yefeng Cai4, Houxun Xing5, Liming Sun6, Jianping Li7, Yan Zhang7, Fangfang Fan7, Binyan Wang8, Ningling Sun9, Lisheng Liu10, Xiping Xu1112, Fanfan Hou12, Hongbing Shen1*, Xin Xu12* and Yong Huo7*

Author Affiliations

1 Department of Epidemiology and Biostatistics, School of Public Health, Nanjing Medical University, Nanjing, China

2 School of Health Administration, Anhui Medical University, Hefei, China

3 Department of Neurology, First People’s Hospital, Lianyungang, China

4 Department of Neurology, Guangdong Traditional Chinese Medicine Hospital, Guangzhou, China

5 Lianyungang Center for Advanced Research in Cardiovascular Diseases, Lianyungang, China

6 Department of Cardiology, Second People’s Hospital, Lianyungang, China

7 Department of Cardiology, Peking University First Hospital, Beijing, China

8 Institute of Biomedicine, Shenzhen University, Guangzhou, China

9 Department of Cardiology, Peking University People’s Hospital, Beijing, China

10 Division of Hypertension, Fu-wai Hospital, Beijing, China

11 Division of Epidemiology and Biostatistics, University of Illinois at Chicago School of Public Health, Chicago, Illinois, 60642, USA

12 Institute of Nephrology, Southern Medical University, Guangzhou, China

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BMC Medical Genetics 2012, 13:74  doi:10.1186/1471-2350-13-74

Published: 16 August 2012



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 m2 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).

MTHFR C677T polymorphism; eGFR; CKD