Branched chain alpha-keto acid dehydrogenase, E1-beta subunit gene is associated with premature ovarian failure

HyunJun Kang; Seung Ku Lee; Sung-Won Cho; Sook-Hwan Lee; KyuBum Kwack

doi:10.1016/j.fertnstert.2007.03.063

Branched chain alpha-keto acid dehydrogenase, E1-beta subunit gene is associated with premature ovarian failure

Fertil Steril. 2008 Mar;89(3):728-31. doi: 10.1016/j.fertnstert.2007.03.063. Epub 2007 May 24.

Authors

HyunJun Kang¹, Seung Ku Lee, Sung-Won Cho, Sook-Hwan Lee, KyuBum Kwack

Affiliation

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

PMID: 17524396
DOI: 10.1016/j.fertnstert.2007.03.063

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.

Publication types

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

MeSH terms

3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) / genetics*
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide) / metabolism
Adult
Case-Control Studies
Female
Genetic Predisposition to Disease
Gonadotropins / blood
Haplotypes
Humans
Linkage Disequilibrium
Phenotype
Polymorphism, Single Nucleotide*
Primary Ovarian Insufficiency / enzymology
Primary Ovarian Insufficiency / genetics*
Protein Subunits / genetics
Risk Factors

Substances

Gonadotropins
Protein Subunits
3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)