Investigation of ELN (elastin) gene g28197A>G mutation in children with Inguinal Hernia

Hernias are an important health problem and can be observed at any age. The probability of abdominal wall hernias occurring at all ages is 1.7%, and approximately 75% of these hernias are inguinal hernias. It is one of the most common surgical problems in children, and its incidence in term babies is estimated to be 1-5%. The potential inheritance pattern of inguinal hernia is still unclear. In a limited number of studies, it has been reported that the missense g28197A>G mutation in the ELN gene is highly associated with inguinal hernia. Although a limited number of studies in the literature provide some evidence about the genetic basis of inguinal hernias, our knowledge on this subject is still very insufficient. In this targeted study, we aimed to investigate g28197A>G mutations in the ELN gene, which are thought to be related to the formation of inguinal hernia in children. In this context, DNA was isolated from blood samples taken from 142 patients diagnosed with inguinal hernia who applied to Aksaray University Faculty of Medicine Department of Pediatric Surgery and 148 healthy control volunteers for inguinal hernia. Using the obtained DNAs, g28197A>G mutations in the ELN gene were genotyped with Real Time PCR (Real Tima PCR). The resulting genotype distributions were calculated and compared separately for the patient and control groups. In our study, the genotype distribution of the ELN gene g28197A>G mutation was 55.63%, 37.33% and 7.04% for the patient and control groups of GG, GA and AA genotypes, respectively; and 39.19%, 49.32% and 11.49%. The GG genotype for this locus was determined to be significantly higher in the patient group compared to the control (p = 0.007; OR, 95%CI = 1.95, 1.22-3.10). In terms of allele frequency, the G allele was found to be high in inguinal hernia patients (p = 0.007; OR, 95%CI = 1.64, 1.15-2.34). Our results show that the ELN gene g28197 locus may be associated with the occurrence of childhood inguinal hernia. Key Words: Inguinal Hernia, ELN, g28197