title: Branched chain alpha-keto acid dehydrogenase, E1-beta subunit gene is associated with premature ovarian failure.
abstract: Genetic variants of the human branched chain alpha-keto acid dehydrogenase, E1-beta subunit (BCKDHB) gene were identified and they have been associated with premature ovarian failure (POF). Reconstructed haplotype from these variants was also associated with POF.
authors.affiliation: Medical Genomics Laboratory, Pochon CHA University, Gyeonggi-do, Korea.
authors.forename: HyunJun
authors.initials: H
authors.lastname: Kang
authors.forename: Seung Ku
authors.initials: SK
authors.lastname: Lee
authors.forename: Sung-Won
authors.initials: SW
authors.lastname: Cho
authors.forename: Sook-Hwan
authors.initials: SH
authors.lastname: Lee
authors.forename: KyuBum
authors.initials: K
authors.lastname: Kwack
mesh_terms: D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) / Q000235:genetics* / Q000378:metabolism; D000328:Adult; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D006062:Gonadotropins / Q000097:blood; D006239:Haplotypes; D006801:Humans; D015810:Linkage Disequilibrium; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D016649:Primary Ovarian Insufficiency / Q000201:enzymology / Q000235:genetics*; D021122:Protein Subunits / Q000235:genetics; D012307:Risk Factors
chemical_list: D006062:Gonadotropins; D021122:Protein Subunits; D042942:3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)