title: Association between polymorphisms in the protein L-isoaspartate (D-aspartate) O-methyltransferase gene and premature ovarian failure.
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.
authors.affiliation: Medical Genomics Laboratory, Pochon CHA University, Gyeonggi-do, South Korea.
authors.forename: Jung-A
authors.initials: JA
authors.lastname: Pyun
authors.forename: Hyunjun
authors.initials: H
authors.lastname: Kang
authors.forename: Seung Ku
authors.initials: SK
authors.lastname: Lee
authors.forename: Min-Ho
authors.initials: MH
authors.lastname: Kim
authors.forename: Kyubum
authors.initials: K
authors.lastname: Kwack
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D026601:Protein D-Aspartate-L-Isoaspartate Methyltransferase / Q000235:genetics*
chemical_list: C435725:PCMT1 protein, human; D026601:Protein D-Aspartate-L-Isoaspartate Methyltransferase