title: [Single-nucleotide polymorphisms of MAMLD1 and hypospadias in Chinese].
abstract: OBJECTIVE
  To investigate the role of the MAMLD1 gene mutation in the pathogenesis of hypospadias in the Chinese population.
  
  
  METHODS
  We collected peripheral venous blood from 150 Chinese children with hypospadias (the case group) and another 120 normal healthy ones (the control group), aged 0.5 to 6 years. We obtained their DNA samples and performed DNA sequencing on the single-nucleotide polymorphisms of MAMLD1, followed by comparative analysis.
  
  
  RESULTS
  A known missense mutation polymorphism p. N589S was identified in 12 (8.0%) of the hypospadias patients and 4 (3.0%) of the normal controls, and a novel missense mutation polymorphism p. N567S was identified in 4 (2.7%) of the patients and 3 (2.5%) of the controls, neither with statistically significant differences between the two groups (P > 0.05).
  
  
  CONCLUSIONS
  The results re-emphasized the importance of replication in genetic association approaches, and might reveal a real difference in susceptibility genes among different populations. The single-nucleotide polymorphisms of MAMLD1 bear no obvious correlation with hypospadias, and MAMLD1 is not a candidate gene in its pathogenesis in the Chinese population.
authors.affiliation: Department of Urology, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127, China.
authors.forename: Li-Kai
authors.initials: LK
authors.lastname: Zhuang
authors.forename: Qi-Hua
authors.initials: QH
authors.lastname: Fu
authors.forename: Jian
authors.initials: J
authors.lastname: Wang
authors.forename: Jie
authors.initials: J
authors.lastname: Sun
mesh_terms: D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D004268:DNA-Binding Proteins / Q000235:genetics*; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D007223:Infant; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; C528016:MAMLD1 protein, human; D009687:Nuclear Proteins; D014157:Transcription Factors