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Updated: May 5, 2026
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Genetic analysis of the TBX2 gene promoter in indirect inguinal hernia
1Division of Hand and Foot Surgery, Jining Medical University Affiliated Hospital, Jining Medical University, Jining, 272029, Shandong, China.
Purpose:
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.
