title: Genetic analysis of the TBX2 gene promoter in indirect inguinal hernia.
abstract: OBJECTIVE
  Inguinal hernia is a common disease, majority of which are indirect inguinal hernia (IIH). A positive family history indicates that genetic factors play important roles in the IIH development. To date, genetic causes for IIH remain unknown. T-box transcription factor 2 (TBX2) is a major regulator in the morphogenesis and organogenesis. The human TBX2 gene is widely expressed in fetal and adult tissues, including muscle and connective tissues. Therefore, we speculated that altered TBX2 gene expression may be involved in the IIH formation.
  
  
  METHODS
  IIH patients (n = 129) and ethnic-matched healthy subjects (n = 198) were recruited for this study. The human TBX2 gene promoters were generated with PCR and directly sequenced to identify DNA sequence variants (DSVs). Furthermore, biological functions of the DSVs were examined with reporter gene constructs in cultured cells.
  
  
  RESULTS
  Total six DSVs within the TBX2 gene promoter were identified. A heterozygous DSV (g.59476307G>C) was identified in an IIH patient, but in none of controls, which significantly decreased the TBX2 gene promoter activities. Another heterozygous DSV (g.59476704G>C) was only found in one control, which did not affect TBX2 gene promoter activities. Four DSVs, g.59476316C>A (rs73991913), g.59476415T>C (rs1476781), g.59476510G>C (rs4455026) and g.59476892C>T (rs2286524), all of which were single nucleotide polymorphisms, were found in both IIH patients and controls with similar frequencies.
  
  
  CONCLUSIONS
  Our data suggested that the DSV within the TBX2 gene promoter was implicated in the IIH development as a rare cause.
authors: Division of Hand and Foot Surgery, Jining Medical University Affiliated Hospital, Jining Medical University, Jining, 272029, Shandong, China.
authors: Y
authors: Y
authors: Zhang
authors: Q
authors: Q
authors: Han
authors: H
authors: H
authors: Fan
authors: W
authors: W
authors: Li
authors: Q
authors: Q
authors: Xing
authors: B
authors: B
authors: Yan
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006552:Hernia, Inguinal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D011401:Promoter Regions, Genetic; D020825:T-Box Domain Proteins / Q000235:genetics*
chemical_list: C097348:T-Box Domain Protein 2; D020825:T-Box Domain Proteins