Association between folate metabolism-related gene polymorphisms and methylation of p16(INK4A) and hMLH1 genes in spontaneously aborted embryos with normal chromosomal integrity.
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.
Park
Hye Mi
HM
Institute for Clinical Research, College of Medicine, Pochon CHA University, Seongnam, South Korea.
Shin
Seung Ju
SJ
Choi
Dong Hee
DH
Oh
Doyeun
D
Lee
Suman
S
Kim
Nam Keun
NK
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
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