title: Association study of five functional polymorphisms in matrix metalloproteinase-2, -3, and -9 genes with risk of primary ovarian insufficiency in Korean women.
abstract: OBJECTIVE
  Primary ovarian insufficiency (POI) is diagnosed clinically by increased follicle-stimulating hormone (FSH) levels and estradiol (E2) deficiency. A previous report suggests a possible association matrix metalloproteinase (MMP) and estrogen signaling pathway; however, there are no reports of MMP genetic associations with POI.
  
  
  METHODS
  Blood samples were collected from 374 karyotypically normal study participants consisting of 138 patients with POI (46, XX; mean age ± standard deviation [SD], 31.7 ± 3.51 years) and 236 control subjects (46, XX; 32.2 ± 3.50 years). Five functional polymorphisms in MMP-2 (-1575G>A [rs243866] and -1306C>T [rs243865]), MMP-3 (-1612 5A/6A [rs3025058]), and MMP-9 (-1562C>T [rs3918242] and 2678G>A [rs17576]) genes were genotyped using polymerase chain reaction-restriction fragment length polymorphism assays in a cohort of 236 controls and 138 POIs.
  
  
  RESULTS
  MMP-2 -1306CT+TT was associated with POI occurrence. Moreover, relatively lower serum estradiol levels were detected in healthy women with the MMP-2 -1575GA+AA/MMP-2 -1306CT+TT and MMP-2 -1306CT+TT/MMP-9 2678GG combination genotypes.
  
  
  CONCLUSIONS
  MMP-2 -1306C>T polymorphism may contribute to an increased POI prevalence in Korean women. Further studies are needed to confirm the genetic associations in other ethnic populations.
authors.affiliation: Department of Obstetrics and Gynecology, CHA Bundang Medical Center, School of Medicine, CHA University, Seongnam 463-712, South Korea.
authors.forename: Young Ran
authors.initials: YR
authors.lastname: Kim
authors.affiliation: Institute for Clinical Research, CHA Bundang Medical Center, School of Medicine, CHA University, Seongnam 463-712, South Korea; Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea.
authors.forename: Young Joo
authors.initials: YJ
authors.lastname: Jeon
authors.affiliation: Department of Obstetrics and Gynecology, CHA Bundang Medical Center, School of Medicine, CHA University, Seongnam 463-712, South Korea.
authors.forename: Hyun Seok
authors.initials: HS
authors.lastname: Kim
authors.affiliation: Institute for Clinical Research, CHA Bundang Medical Center, School of Medicine, CHA University, Seongnam 463-712, South Korea; Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea.
authors.forename: Jung O
authors.initials: JO
authors.lastname: Kim
authors.affiliation: Department of Obstetrics and Gynecology, CHA Bundang Medical Center, School of Medicine, CHA University, Seongnam 463-712, South Korea.
authors.forename: Myoung Jin
authors.initials: MJ
authors.lastname: Moon
authors.affiliation: Department of Obstetrics and Gynecology, CHA Bundang Medical Center, School of Medicine, CHA University, Seongnam 463-712, South Korea.
authors.forename: Eun Hee
authors.initials: EH
authors.lastname: Ahn
authors.affiliation: Fertility Center of CHA Gangnam Medical Center, CHA University, Seoul 135-081, South Korea. Electronic address: wooslee@cha.ac.kr.
authors.forename: Woo Sik
authors.initials: WS
authors.lastname: Lee
authors.affiliation: Institute for Clinical Research, CHA Bundang Medical Center, School of Medicine, CHA University, Seongnam 463-712, South Korea; Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea. Electronic address: nkkim@cha.ac.kr.
authors.forename: Nam Keun
authors.initials: NK
authors.lastname: Kim
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D004958:Estradiol / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007986:Luteinizing Hormone / Q000097:blood; D020778:Matrix Metalloproteinase 2 / Q000235:genetics*; D019278:Matrix Metalloproteinase 3 / Q000235:genetics*; D020780:Matrix Metalloproteinase 9 / Q000235:genetics*; D011110:Polymorphism, Genetic; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000235:genetics*; D056910:Republic of Korea
chemical_list: D004958:Estradiol; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; C511768:MMP3 protein, human; D019278:Matrix Metalloproteinase 3; C522361:MMP2 protein, human; D020778:Matrix Metalloproteinase 2; C579270:MMP9 protein, human; D020780:Matrix Metalloproteinase 9
keywords: Matrix metalloproteinase; Polymorphism; Primary ovarian insufficiency