title: Genetic association between PAX2 and mullerian duct anomalies in Han Chinese females.
abstract: OBJECTIVE
  The study aims to investigate the genetic association between paired box gene 2 (PAX2) and mullerian duct anomalies (MDA) in Chinese Han females.
  
  
  METHODS
  Matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) was used to identify the genotypes of three tag single nucleotide polymorphisms (SNPs) in PAX2 in 362 MDA cases and 406 controls.
  
  
  RESULTS
  We found that one tag SNP (rs12266644) of PAX2 was associated with susceptibility to MDA. The genotype distributions of the SNP rs12266644 have a statistically significant difference in the MDA patients and controls with a p value = 0.008. In the dominant model, we also observed that the GT + TT genotype increased the risk for MDA (p = 0.015, OR = 1.637, 95 % CI = 1.096-2.443).
  
  
  CONCLUSIONS
  The polymorphism rs12266644 of PAX2 might be a risk factor for MDA in Chinese Han females.
authors.affiliation: Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.|Institute of Reproductive Genetics, Anhui Medical University, Hefei, China.|Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China.
authors.forename: Zuying
authors.initials: Z
authors.lastname: Xu
authors.affiliation: Graduate School of Peking Union Medical College, Beijing, China.|Center for Genetics, National Research Institute for Family Planning, 12 Dahuisi Road, Haidian, Beijing, 100081, China.
authors.forename: Shinan
authors.initials: S
authors.lastname: Wu
authors.affiliation: Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.|Institute of Reproductive Genetics, Anhui Medical University, Hefei, China.|Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China.
authors.forename: Qiong
authors.initials: Q
authors.lastname: Xing
authors.affiliation: Center for Genetics, National Research Institute for Family Planning, 12 Dahuisi Road, Haidian, Beijing, 100081, China.
authors.forename: Xi
authors.initials: X
authors.lastname: Wang
authors.affiliation: Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.|Institute of Reproductive Genetics, Anhui Medical University, Hefei, China.|Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China.
authors.forename: Huifen
authors.initials: H
authors.lastname: Xiang
authors.affiliation: Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.|Institute of Reproductive Genetics, Anhui Medical University, Hefei, China.|Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China.
authors.forename: Yuping
authors.initials: Y
authors.lastname: Xu
authors.affiliation: Department of Medical Genetics, The Capital Medical University, Beijing, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.affiliation: Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China.|Institute of Reproductive Genetics, Anhui Medical University, Hefei, China.|Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China.
authors.forename: Xiaojin
authors.initials: X
authors.lastname: He
authors.affiliation: Graduate School of Peking Union Medical College, Beijing, China. wbbahu@163.com.|Center for Genetics, National Research Institute for Family Planning, 12 Dahuisi Road, Haidian, Beijing, 100081, China. wbbahu@163.com.
authors.forename: Binbin
authors.initials: B
authors.lastname: Wang
authors.affiliation: Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, China. caoyunxia6@126.com.|Institute of Reproductive Genetics, Anhui Medical University, Hefei, China. caoyunxia6@126.com.|Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, China. caoyunxia6@126.com.
authors.forename: Yunxia
authors.initials: Y
authors.lastname: Cao
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People; D002681:China; D005260:Female; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005831:Genital Diseases, Female / Q000235:genetics* / Q000473:pathology; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D009095:Mullerian Ducts / Q000473:pathology*; D051762:PAX2 Transcription Factor / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D019032:Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
chemical_list: D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human
keywords: Association study; Mullerian duct anomalies; PAX2; Single nucleotide polymorphism