title: The role of apurinic/apyrimidinic endonuclease DNA repair gene in endometriosis.
abstract: OBJECTIVE
  The altered cellular repair capacity plays a critical role in genomic instability and carcinogenesis. We aimed at evaluating the contribution of the polymorphic variant in apurinic/apyriminidinic endonuclease (APEX1) gene to its mRNA and protein levels and the risk of endometriosis.
  
  
  METHODS
  In the current case-control study, 153 endometriosis patients and 636 non-endometriosis controls were recruited. APEX1 Asp(148)Glu (rs1130409) genotyping was conducted by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). At the same time, twenty eight endometriosis tissue samples with different genotypes were examined regarding their expression levels of APEX1 mRNA and protein by quantitative reverse transcription-polymerase chain reaction (q-PCR) and western blotting, respectively.
  
  
  RESULTS
  Compared with wild-type TT genotype, TG and GG genotypes of APEX1 Asp(148)Glu had a risk of endometriosis of 0.93- and 0.87-fold. The results from in vivo transcriptional (RNA) and translational (protein) level analysis revealed that the APEX1 mRNA and protein were of similar levels among the endometriosis tissues of people carrying TT, TG, or GG genotypes. There was no joint effect of APEX1 Asp(148)Glu genotype with menarche, pregnancy, smoking or alcohol drinking lifestyles on endometriosis risk.
  
  
  CONCLUSIONS
  The APEX1 Asp(148)Glu genotype correlates well with its mRNA and protein expression among endometriosis patients and may not serve as a sensitive marker for prediction of endometriosis risk in Taiwan.
authors.affiliation: Terry Fox Cancer Research Laboratory, China Medical University Hospital, Taichung, Taiwan, R.O.C.
authors.forename: Chin-Mu
authors.initials: CM
authors.lastname: Hsu
authors.affiliation: Terry Fox Cancer Research Laboratory, China Medical University Hospital, Taichung, Taiwan, R.O.C. Graduate Institute of Clinical Medical Science, China Medical University, Taichung, Taiwan, R.O.C.
authors.forename: Wen-Shin
authors.initials: WS
authors.lastname: Chang
authors.affiliation: Department of Biomedical Imaging and Radiological Sciences, National Yang-Ming University, Taipei, Taiwan, R.O.C.
authors.forename: Jeng-Jong
authors.initials: JJ
authors.lastname: Hwang
authors.affiliation: Basic Medical Science, Department of Nursing, Hung-Kuang University, Taichung, Taiwan, R.O.C.
authors.forename: Ju-Yu
authors.initials: JY
authors.lastname: Wang
authors.affiliation: Graduate Institute of Clinical Medical Science, China Medical University, Taichung, Taiwan, R.O.C.
authors.forename: Yun-Lin
authors.initials: YL
authors.lastname: Hsiao
authors.affiliation: Terry Fox Cancer Research Laboratory, China Medical University Hospital, Taichung, Taiwan, R.O.C.
authors.forename: Chia-Wen
authors.initials: CW
authors.lastname: Tsai
authors.affiliation: Graduate Institute of Clinical Medical Science, China Medical University, Taichung, Taiwan, R.O.C.
authors.forename: Juhn-Cherng
authors.initials: JC
authors.lastname: Liu
authors.affiliation: Department of Obstetrics and Gynecology, Chung Shan Medical University Hospital, Taichung, Taiwan, R.O.C.
authors.forename: Tsung-Ho
authors.initials: TH
authors.lastname: Ying
authors.affiliation: Terry Fox Cancer Research Laboratory, China Medical University Hospital, Taichung, Taiwan, R.O.C. Graduate Institute of Clinical Medical Science, China Medical University, Taichung, Taiwan, R.O.C.
authors.forename: Da-Tian
authors.initials: DT
authors.lastname: Bau
mesh_terms: D000328:Adult; D000428:Alcohol Drinking / Q000009:adverse effects; D019943:Amino Acid Substitution; D016022:Case-Control Studies; D004260:DNA Repair / Q000235:genetics*; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase / Q000235:genetics*; D004715:Endometriosis / Q000201:enzymology* / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006801:Humans; D008572:Menarche / Q000235:genetics; D011247:Pregnancy; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D012307:Risk Factors; D012907:Smoking / Q000009:adverse effects
chemical_list: D012333:RNA, Messenger; C085108:APEX1 protein, human; D043603:DNA-(Apurinic or Apyrimidinic Site) Lyase
keywords: APEX1; DNA repair; endometriosis; genotype; polymorphism