title: Association of CDKN2B-AS and WNT4 genetic polymorphisms in Korean patients with endometriosis.
abstract: OBJECTIVE
  To investigate whether specific genetic polymorphisms in the cyclin-dependent kinase inhibitor 2B antisense RNA (CDKN2B-AS) gene and near the wingless-type MMTV integration site family member 4 (WNT4) gene are associated with endometriosis in a Korean population.
  
  
  METHODS
  Case-control genetic association study.
  
  
  METHODS
  University.
  
  
  METHODS
  Surgically or histologically diagnosed cases of endometriosis (n=673) and controls (n=500) among a population of ethnic Koreans.
  
  
  METHODS
  None.
  
  
  METHODS
  Genotype distribution and synergistic interaction.
  
  
  RESULTS
  Significant differences were found in the allele distributions of the CC genotype of the rs10965235 single-nucleotide polymorphism (SNP) of the CDKN2B-AS gene and the GG genotype of the rs16826658 SNP on chromosome 1p36 between the endometriosis cases and the controls (rs10965235: 69.7% CC, 26.9% CA, and 3.4% AA vs. 59.2% CC, 35.2% CA, and 5.6% AA; rs16826658: 33.7% GG, 48.4% GT, and 17.8% TT vs. 25.6% GG, 49.8% GT, and 24.6% TT, respectively). A significant interaction was not found between the CC genotype of the rs10965235 SNP and the GG genotype of the rs16826658 SNP after Bonferroni correction (32.8% of CC+GG and 67.2% of CC+non-GG in the endometriosis cases vs. 25.0% of CC+GG and 75.0% of CC+non-GG in the controls).
  
  
  CONCLUSIONS
  Our results suggest that the rs10965235 SNP in the CDKN2B-AS gene and the rs16826658 SNP near the WNT4 gene were significantly associated with endometriosis in this Korean population.
authors.affiliation: I-one Center, Seoul Women's Hospital, Bucheon, South Korea.
authors.forename: Gyoung Hoon
authors.initials: GH
authors.lastname: Lee
authors.affiliation: Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, South Korea; The Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University College of Medicine, Seoul, South Korea. Electronic address: ymchoi@snu.ac.kr.
authors.forename: Young Min
authors.initials: YM
authors.lastname: Choi
authors.affiliation: Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, South Korea.
authors.forename: Min A
authors.initials: MA
authors.lastname: Hong
authors.affiliation: Department of Obstetrics and Gynecology, Dongguk University Ilsan Hospital, Goyang, South Korea.
authors.forename: Sang Ho
authors.initials: SH
authors.lastname: Yoon
authors.affiliation: Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, South Korea; Healthcare System Gangnam Centre, Seoul National University Hospital, Seoul, South Korea.
authors.forename: Jin Ju
authors.initials: JJ
authors.lastname: Kim
authors.affiliation: Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, South Korea; Department of Obstetrics and Gynecology, Seoul Municipal Boramae Hospital, Seoul, South Korea.
authors.forename: Kyuri
authors.initials: K
authors.lastname: Hwang
authors.affiliation: Department of Obstetrics and Gynecology, Maria Fertility Hospital, Seoul, South Korea.
authors.forename: Soo Jin
authors.initials: SJ
authors.lastname: Chae
mesh_terms: D000328:Adult; D004715:Endometriosis / Q000453:epidemiology* / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000453:epidemiology* / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D015995:Prevalence; D062085:RNA, Long Noncoding / Q000235:genetics*; D015203:Reproducibility of Results; D056910:Republic of Korea / Q000453:epidemiology; D012307:Risk Factors; D012680:Sensitivity and Specificity; D060528:Wnt4 Protein / Q000235:genetics*
chemical_list: C561518:CDKN2B antisense RNA, human; D005819:Genetic Markers; D062085:RNA, Long Noncoding; C555581:WNT4 protein, human; D060528:Wnt4 Protein
keywords: CDKN2B-AS; WNT4; endometriosis; polymorphism