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Association between the MTHFR C677T polymorphism, blood folate and vitamin B12 deficiency, and elevated serum total homocysteine in healthy individuals in Yunnan Province, China.
J Chin Med Assoc 2017; 80(3):147-153JC

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).

CONCLUSION

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+Show Affiliations

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.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.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.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.Institute of Genetics, Fudan University, Shanghai, China.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.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.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28094233

Citation

Ni, Juan, et al. "Association Between the MTHFR C677T Polymorphism, Blood Folate and Vitamin B12 Deficiency, and Elevated Serum Total Homocysteine in Healthy Individuals in Yunnan Province, China." Journal of the Chinese Medical Association : JCMA, vol. 80, no. 3, 2017, pp. 147-153.
Ni J, Zhang L, Zhou T, et al. Association between the MTHFR C677T polymorphism, blood folate and vitamin B12 deficiency, and elevated serum total homocysteine in healthy individuals in Yunnan Province, China. J Chin Med Assoc. 2017;80(3):147-153.
Ni, J., Zhang, L., Zhou, T., Xu, W. J., Xue, J. L., Cao, N., & Wang, X. (2017). Association between the MTHFR C677T polymorphism, blood folate and vitamin B12 deficiency, and elevated serum total homocysteine in healthy individuals in Yunnan Province, China. Journal of the Chinese Medical Association : JCMA, 80(3), pp. 147-153. doi:10.1016/j.jcma.2016.07.005.
Ni J, et al. Association Between the MTHFR C677T Polymorphism, Blood Folate and Vitamin B12 Deficiency, and Elevated Serum Total Homocysteine in Healthy Individuals in Yunnan Province, China. J Chin Med Assoc. 2017;80(3):147-153. PubMed PMID: 28094233.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Association between the MTHFR C677T polymorphism, blood folate and vitamin B12 deficiency, and elevated serum total homocysteine in healthy individuals in Yunnan Province, China. AU - Ni,Juan, AU - Zhang,Ling, AU - Zhou,Tao, AU - Xu,Wei-Jiang, AU - Xue,Jing-Lun, AU - Cao,Neng, AU - Wang,Xu, Y1 - 2017/01/13/ PY - 2016/02/10/received PY - 2016/06/09/revised PY - 2016/06/29/accepted PY - 2017/1/18/pubmed PY - 2017/9/29/medline PY - 2017/1/18/entrez KW - MTHFR C677T polymorphism KW - folate KW - homocysteine KW - vitamin B12 SP - 147 EP - 153 JF - Journal of the Chinese Medical Association : JCMA JO - J Chin Med Assoc VL - 80 IS - 3 N2 - 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). CONCLUSION: 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. SN - 1728-7731 UR - https://www.unboundmedicine.com/medline/citation/28094233/Association_between_the_MTHFR_C677T_polymorphism_blood_folate_and_vitamin_B12_deficiency_and_elevated_serum_total_homocysteine_in_healthy_individuals_in_Yunnan_Province_China_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1726-4901(16)30217-9 DB - PRIME DP - Unbound Medicine ER -