title: Association between the MTHFR C677T polymorphism, blood folate and vitamin B12 deficiency, and elevated serum total homocysteine in healthy individuals in Yunnan Province, China.
abstract: BACKGROUND
  An increased serum total homocysteine (tHcy) concentration is typically associated with genetic defects involved in Hcy metabolism or related nutritional deficiencies. In this study, the combined effects of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and folate and vitamin B12 deficiency on serum total Hcy (tHcy) levels were evaluated in a healthy Chinese population in Yunnan Province, China.
  
  
  METHODS
  The MTHFR C677T polymorphism was genotyped in 330 volunteers (164 men and 166 women) using polymerase chain reaction-restriction fragment length polymorphism analysis. Folate, vitamin B12, and tHcy concentrations were determined by corpuscle immune chemiluminescence assays. The tHcy concentration was determined using an enzymatic assay.
  
  
  RESULTS
  Significant negative correlations (p<0.001) were observed between the serum levels of tHcy and folate (r=-0.252) and vitamin B12 (r=-0.243). Men had significantly higher serum tHcy concentrations than women (p<0.001). Individuals with the MTHFR TT genotype had significantly higher serum tHcy concentrations than individuals with the CC and CT genotypes (p<0.001). The folate level of red blood cells was significantly increased in individuals with the TT genotype than in individuals with the CC genotype (p<0.05). Moreover, in the low vitamin group, the serum tHcy level was significantly correlated with the levels of folate (r=-0.334, p=0.001) and vitamin B12 (r=-0.212, p=0.046).
  
  
  CONCLUSIONS
  The MTHFR C677T polymorphism, folate deficiency, and B12 deficiency were significantly associated with elevated serum tHcy levels. Among these three factors, folate deficiency had the greatest contribution to the serum tHcy concentration, followed by (in order of decreasing effect) MTHFR C677T and vitamin B12 deficiency. Thus, folic acid and vitamin B12 supplementation could help prevent diseases associated with tHcy accumulation, especially in individuals with the MTHFR 677TT genotype.
authors.affiliation: Engineering Research Center of Sustainable Development and Utilization of Biomass Energy, Ministry of Education, Kunming, China; Key Laboratory of Yunnan Province for Biomass Energy and Environmental Biotechnology, Kunming, China; School of Life Sciences, Yunnan Normal University, Kunming, China.
authors.forename: Juan
authors.initials: J
authors.lastname: Ni
authors.affiliation: Engineering Research Center of Sustainable Development and Utilization of Biomass Energy, Ministry of Education, Kunming, China; Key Laboratory of Yunnan Province for Biomass Energy and Environmental Biotechnology, Kunming, China; School of Life Sciences, Yunnan Normal University, Kunming, China.
authors.forename: Ling
authors.initials: L
authors.lastname: Zhang
authors.affiliation: Engineering Research Center of Sustainable Development and Utilization of Biomass Energy, Ministry of Education, Kunming, China; Key Laboratory of Yunnan Province for Biomass Energy and Environmental Biotechnology, Kunming, China; School of Life Sciences, Yunnan Normal University, Kunming, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Zhou
authors.affiliation: Engineering Research Center of Sustainable Development and Utilization of Biomass Energy, Ministry of Education, Kunming, China; Key Laboratory of Yunnan Province for Biomass Energy and Environmental Biotechnology, Kunming, China; School of Life Sciences, Yunnan Normal University, Kunming, China.
authors.forename: Wei-Jiang
authors.initials: WJ
authors.lastname: Xu
authors.affiliation: Institute of Genetics, Fudan University, Shanghai, China.
authors.forename: Jing-Lun
authors.initials: JL
authors.lastname: Xue
authors.affiliation: Engineering Research Center of Sustainable Development and Utilization of Biomass Energy, Ministry of Education, Kunming, China; Key Laboratory of Yunnan Province for Biomass Energy and Environmental Biotechnology, Kunming, China; School of Life Sciences, Yunnan Normal University, Kunming, China.
authors.forename: Neng
authors.initials: N
authors.lastname: Cao
authors.affiliation: Engineering Research Center of Sustainable Development and Utilization of Biomass Energy, Ministry of Education, Kunming, China; Key Laboratory of Yunnan Province for Biomass Energy and Environmental Biotechnology, Kunming, China; School of Life Sciences, Yunnan Normal University, Kunming, China. Electronic address: wangxu@fudan.edu.cn.
authors.forename: Xu
authors.initials: X
authors.lastname: Wang
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004912:Erythrocytes / Q000737:chemistry; D005260:Female; D005492:Folic Acid / Q000008:administration & dosage / Q000097:blood*; D005838:Genotype; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D011110:Polymorphism, Genetic; D014805:Vitamin B 12 / Q000008:administration & dosage / Q000097:blood; D014806:Vitamin B 12 Deficiency / Q000097:blood*; D055815:Young Adult
chemical_list: D006710:Homocysteine; D005492:Folic Acid; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D014805:Vitamin B 12
keywords: MTHFR C677T polymorphism; folate; homocysteine; vitamin B12