RGD Reference Report - Methylenetetrahydrofolate reductase C677T polymorphism is associated with estimated glomerular filtration rate in hypertensive Chinese males. - Rat Genome Database

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

Authors: Dong, Qing  Tang, Genfu  He, Mingli  Cai, Yunqing  Cai, Yefeng  Xing, Houxun  Sun, Liming  Li, Jianping  Zhang, Yan  Fan, Fangfang  Wang, Binyan  Sun, Ningling  Liu, Lisheng  Xu, Xiping  Hou, Fanfan  Shen, Hongbing  Xu, Xin  Huo, Yong 
Citation: Dong Q, etal., BMC Med Genet. 2012 Aug 16;13:74.
RGD ID: 6893451
Pubmed: PMID:22897803   (View Abstract at PubMed)
PMCID: PMC3458982   (View Article at PubMed Central)
DOI: DOI:10.1186/1471-2350-13-74   (Journal Full-text)


BACKGROUND: 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.
METHODS: A total of 18 814 hypertensive patients (6,914 males, 11,900 females) were included in the study.
RESULTS: 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.
CONCLUSIONS: 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).

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Decreased glomerular filtration rate  IAGP 6893451associated with hypertensionRGD 
Objects Annotated

Genes (Homo sapiens)
MTHFR  (methylenetetrahydrofolate reductase)


Additional Information