Association between polymorphisms in the protein L-isoaspartate (D-aspartate) O-methyltransferase gene and premature ovarian failure

Jung-A Pyun; Hyunjun Kang; Seung Ku Lee; Min-Ho Kim; Kyubum Kwack

doi:10.1016/j.fertnstert.2008.03.078

Association between polymorphisms in the protein L-isoaspartate (D-aspartate) O-methyltransferase gene and premature ovarian failure

Fertil Steril. 2009 Apr;91(4 Suppl):1362-5. doi: 10.1016/j.fertnstert.2008.03.078. Epub 2008 Jun 25.

Authors

Jung-A Pyun¹, Hyunjun Kang, Seung Ku Lee, Min-Ho Kim, Kyubum Kwack

Affiliation

¹ Medical Genomics Laboratory, Pochon CHA University, Gyeonggi-do, South Korea.

PMID: 18582870
DOI: 10.1016/j.fertnstert.2008.03.078

Abstract

We found that four polymorphisms in the protein L-isoaspartyl-O-methyltransferase (PCMT1) gene, encoding a protein repair enzyme, are associated with premature ovarian failure (POF). All four polymorphisms were in strong linkage disequilibrium. The frequencies of two haplotypes were statistically significantly different between the POF group and the matched control group.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adult
Case-Control Studies
Female
Genetic Predisposition to Disease / genetics*
Genotype
Haplotypes / genetics
Humans
Linkage Disequilibrium / genetics
Polymorphism, Single Nucleotide / genetics*
Primary Ovarian Insufficiency / genetics*
Protein D-Aspartate-L-Isoaspartate Methyltransferase / genetics*

Substances

PCMT1 protein, human
Protein D-Aspartate-L-Isoaspartate Methyltransferase