Open AccessNo Association of Functional Polymorphisms in Methlylenetetrahydrofolate Reductase and the Risk and Minor Physical Anomalies of Schizophrenia in Korean Population
Author(s) -
Su-Gyeong Kim,
Joo Yun Song,
Eun Jeong Joo,
Seong Hoon Jeong,
Se Hyun Kim,
Kyu Young Lee,
Nam Young Lee,
Yong Min Ahn,
Yong Sik Kim,
Meejeon Roh
Publication year - 2011
Publication title -
journal of korean medical science/journal of korean medical science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.743
H-Index - 66
eISSN - 1598-6357
pISSN - 1011-8934
DOI - 10.3346/jkms.2011.26.10.1356
Subject(s) - methylenetetrahydrofolate reductase , schizophrenia (object oriented programming) , genetics , medicine , dna methylation , population , genetic association , positive and negative syndrome scale , biology , psychiatry , psychosis , single nucleotide polymorphism , allele , gene , genotype , gene expression , environmental health
Methylenetetrahydrofolate reductase (MTHFR), a critical enzyme in folate metabolism, plays an important role in DNA methylation. It has been suggested that abnormal DNA methylation contributes to the pathogenesis of schizophrenia and congenital anomalies. The previous findings regarding the genetic relationship between MTHFR and schizophrenia are controversial. This study investigated the association of the two functional polymorphisms of MTHFR, C677T and A1298C, with the risk for schizophrenia. Furthermore, we conducted an updated meta-analysis on the two polymorphisms. In addition, we investigated the relationship between the polymorphisms and minor physical anomaly (MPA), which may represent neurodevelopmental aberrations in 201 schizophrenia patients and 350 normal control subjects. There was no significant association between either of the two polymorphisms and the risk of schizophrenia (chi-square = 0.001, df = 1, P = 0.971 for C677T; chi-square = 1.319, df = 1, P = 0.251 for A1298C). However, in meta-analysis, the C677T polymorphism showed a significant association in the combined and Asian populations (OR = 1.13, P = 0.005; OR = 1.21, P = 0.011, respectively) but not in the Korean and Caucasian populations alone. Neither polymorphism was associated with MPAs measured by the Waldrop scale (chi-square = 2.513, df = 2, P = 0.285). In conclusion, the present findings suggest that in the Korean population, the MTHFR polymorphisms are unlikely to be associated with the risk for schizophrenia and neurodevelopmental abnormalities related to schizophrenia.