title: Genetic variants in 3'-UTRs of methylenetetrahydrofolate reductase (MTHFR) predict colorectal cancer susceptibility in Koreans.
abstract: Polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) play important roles in tumor development, progression, and metastasis. Moreover, recent studies have reported that a number of 3'-UTR polymorphisms potentially bind to specific microRNAs in a variety of cancers. The aim of this study was to investigate the association of four MTHFR polymorphisms, 2572C>A [rs4846049], 4869C>G [rs1537514], 5488C>T [rs3737967], and 6685T>C [rs4846048] with colorectal cancer (CRC) in Koreans. A total of 850 participants (450 CRC patients and 400 controls) were enrolled in the study. The genotyping of MTHFR 3'-UTR polymorphisms was performed by polymerase chain reaction-restriction fragment length polymorphism analysis or TaqMan allelic discrimination assay. We found that MTHFR 2572C>A, 4869C>G, and 5488C>T genotypes were substantially associated with CRC susceptibility. Of the potentially susceptible polymorphisms, MTHFR 2572C>A was associated with increased homocysteine and decreased folate levels in the plasma based on MTHFR 677CC. Our study provides the evidences for 3'-UTR variants in MTHFR gene as potential biomarkers for use in CRC prevention.
authors.affiliation: Institute for Clinical Research, School of Medicine, CHA University, 351 Yatap-dong, Bundang-gu, Seongnam 463-712, South Korea.
authors.forename: Young Joo
authors.initials: YJ
authors.lastname: Jeon
authors.affiliation: Department of Surgery, School of Medicine, CHA University, 351 Yatap-dong, Bundang-gu, Seongnam 463-712, South Korea.
authors.forename: Jong Woo
authors.initials: JW
authors.lastname: Kim
authors.affiliation: Institute for Clinical Research, School of Medicine, CHA University, 351 Yatap-dong, Bundang-gu, Seongnam 463-712, South Korea.
authors.forename: Hye Mi
authors.initials: HM
authors.lastname: Park
authors.affiliation: Institute for Clinical Research, School of Medicine, CHA University, 351 Yatap-dong, Bundang-gu, Seongnam 463-712, South Korea.
authors.forename: Jung O
authors.initials: JO
authors.lastname: Kim
authors.affiliation: Institute for Clinical Research, School of Medicine, CHA University, 351 Yatap-dong, Bundang-gu, Seongnam 463-712, South Korea.
authors.forename: Hyo Geun
authors.initials: HG
authors.lastname: Jang
authors.affiliation: Department of Internal Medicine, School of Medicine, CHA University, 351 Yatap-dong, Bundang-gu, Seongnam 463-712, South Korea.
authors.forename: Jisu
authors.initials: J
authors.lastname: Oh
authors.affiliation: Department of Internal Medicine, School of Medicine, CHA University, 351 Yatap-dong, Bundang-gu, Seongnam 463-712, South Korea.
authors.forename: Seong Gyu
authors.initials: SG
authors.lastname: Hwang
authors.affiliation: Department of Surgery, School of Medicine, CHA University, 351 Yatap-dong, Bundang-gu, Seongnam 463-712, South Korea.
authors.forename: Sung Won
authors.initials: SW
authors.lastname: Kwon
authors.affiliation: Department of Internal Medicine, School of Medicine, CHA University, 351 Yatap-dong, Bundang-gu, Seongnam 463-712, South Korea.
authors.forename: Doyeun
authors.initials: D
authors.lastname: Oh
authors.affiliation: Institute for Clinical Research, School of Medicine, CHA University, 351 Yatap-dong, Bundang-gu, Seongnam 463-712, South Korea.
authors.forename: Nam Keun
authors.initials: NK
authors.lastname: Kim
mesh_terms: D020413:3' Untranslated Regions; D000230:Adenocarcinoma / Q000097:blood / Q000235:genetics*; D000368:Aged; D015179:Colorectal Neoplasms / Q000097:blood / Q000235:genetics*; D005260:Female; D005492:Folic Acid / Q000097:blood; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006710:Homocysteine / Q000097:blood; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D056910:Republic of Korea
chemical_list: D020413:3' Untranslated Regions; D006710:Homocysteine; D005492:Folic Acid; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)