title: Association between folate metabolism-related gene polymorphisms and methylation of p16(INK4A) and hMLH1 genes in spontaneously aborted embryos with normal chromosomal integrity.
abstract: OBJECTIVE
  To assess prevalent polymorphisms of 5,10-methylenetetrahydrofolate reductase (MTHFR) and thymidylate synthase enhancer region (TSER) and methylation patterns of p16(INK4A) and hMLH1 genes in spontaneously aborted embryos (SAEs) with normal chromosomal integrity.
  
  
  METHODS
  Retrospectively analyzed, prospectively obtained database.
  
  
  METHODS
  Bundang CHA General Hospital in South Korea.
  
  
  METHODS
  Fifty-nine SAEs (<20 wk of gestational age) with normal chromosomal integrity.
  
  
  METHODS
  None.
  
  
  METHODS
  Genotype frequency of MTHFR, TSER polymorphisms, and methylation status of p16(INK4A) and hMLH1 genes in SAEs with normal chromosomal integrity.
  
  
  RESULTS
  The distribution of the MTHFR 677C>T polymorphism differed significantly between SAEs with normal chromosomal integrity and the two control groups. Also, the frequency of combined MTHFR 677 and TSER genotypes was significantly different between the aborted embryos and the adult control group. However, the MTHFR 677C>T and 1298A>C and TSER polymorphisms were not associated with the methylation status of p16(INK4A) and hMLH1 genes in SAEs with normal chromosomal integrity.
  
  
  CONCLUSIONS
  Association between the MTHFR 677C>T polymorphism and the risk of SAEs with normal chromosomal integrity in the Korean population.
authors.affiliation: Institute for Clinical Research, College of Medicine, Pochon CHA University, Seongnam, South Korea.
authors.forename: Hye Mi
authors.initials: HM
authors.lastname: Park
authors.forename: Seung Ju
authors.initials: SJ
authors.lastname: Shin
authors.forename: Dong Hee
authors.initials: DH
authors.lastname: Choi
authors.forename: Doyeun
authors.initials: D
authors.lastname: Oh
authors.forename: Suman
authors.initials: S
authors.lastname: Lee
authors.forename: Nam Keun
authors.initials: NK
authors.lastname: Kim
mesh_terms: D000022:Abortion, Spontaneous / Q000201:enzymology / Q000208:ethnology / Q000235:genetics*; D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D019175:DNA Methylation; D005260:Female; D005492:Folic Acid / Q000378:metabolism*; D005787:Gene Frequency; D005865:Gestational Age; D006801:Humans; D007223:Infant; D007723:Korea; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D000070957:MutL Protein Homolog 1; D009687:Nuclear Proteins / Q000235:genetics*; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D011247:Pregnancy; D012189:Retrospective Studies; D018570:Risk Assessment; D013940:Thymidylate Synthase / Q000235:genetics* / Q000378:metabolism; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D019941:Cyclin-Dependent Kinase Inhibitor p16; C501486:MLH1 protein, human; D009687:Nuclear Proteins; D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D013940:Thymidylate Synthase; D000070957:MutL Protein Homolog 1