Authors: Y Zhang Q Han H Fan W Li Q Xing B Yan
Publish Date: 2013/12/06
Volume: 18, Issue: 4, Pages: 513-517
Abstract
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 Tbox 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 formationIIH patients n = 129 and ethnicmatched 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 cellsTotal six DSVs within the TBX2 gene promoter were identified A heterozygous DSV g59476307GC was identified in an IIH patient but in none of controls which significantly decreased the TBX2 gene promoter activities Another heterozygous DSV g59476704GC was only found in one control which did not affect TBX2 gene promoter activities Four DSVs g59476316CA rs73991913 g59476415TC rs1476781 g59476510GC rs4455026 and g59476892CT rs2286524 all of which were single nucleotide polymorphisms were found in both IIH patients and controls with similar frequencies
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