@article{oai:u-ryukyu.repo.nii.ac.jp:02016224,
 author = {Goto, Takahiro and Arakaki, Keiichi and Natsume, Nagato and Sunakawa, Hajime},
 issue = {3･4},
 journal = {琉球医学会誌 = Ryukyu Medical Journal},
 note = {The aim of this study was to verify the association between 4 polymorphisms in the folate pathway genes-5,10-methylenetetrahydrofolate reductase (MTHFR) gene polymorphisms (rs1801133 and rs1801131); methionine synthase (MTR) gene polymorphism (rs1805087); and reduced folate carrier 1 (RFC1) gene polymorphism (rs1051266) - and the development of familial and/or sporadic nonsyndromic cleft lip with/ without cleft palate (NSCL±P) in a Japanese population. Method: Our study to evaluate the distribution of genotype and allele frequencies between patients and controls for the folate pathway gene polymorphisms as well as the relative risk of the interaction among the polymorphisms involved 82 Japanese familial NSCL±P patients and their 52 mothers, 152 sporadic NSCL±P patients and their parents (102 mothers and 82 fathers), and 242 control subjects for comparison. Moreover, we performed the transmission disequilibrium test with 77 sporadic NSCL±P case-parent triads as well as gene-gene interaction studies. Results: The results of our case-control and gene-gene interaction studies did not reveal any significant differences in any categories. Conclusion: Our results revealed that rs1801133 and rs1801131 in the MTHFR gene, rs1805087 in the MTR gene, and rs1051266 in the RFC1 gene were not significantly associated with the development of familial and/or sporadic NSCL±P in the Japanese population., 論文},
 pages = {13--21},
 title = {［原著］Association study of folate pathway gene polymorphisms and nonsyndromic cleft lip with/without cleft palate in a Japanese population},
 volume = {28}
}