Polymorphism of PvuII, Xba1, and SNP 12 estrogen receptor 1 (ESR1) in hipospadias patients at tertiary hospital center

Abstract

Introduction: The prevalence of hypospadias ranges between 1: 250 to 300 per live birth. Estrogen exposure has been associated with the increasing incidence of hypospadias in humans and a significant relationship between Estrogen Receptor 1 (ESR1) polymorphisms and hypospadias was determined from the previous study. This study aims to determine the proportion of ESR1 polymorphism. Methods: This was a descriptive study aimed to find the incidence of ESR1 gene poly- morphism in hypospadias patients visiting the Urology Outpatient Unit of the Hasan Sadikin Bandung Hospital who will undergo hypospadias surgery. Deoxyribonucleic acid (DNA) was performed using foreskin of hypospadias patient during the surgery then being extracted and will be analyzed using polymerase chain reaction (PCR) sequencing. Results: Thirty eight samples of hypospadias were identified, 5 samples were unable to sequence and 33 samples were successfully sequenced using the PCR method. The Pvull ESR1 gene was dominated by the T allele which is a wild-type allele and the genotype containing the T allele, namely TT + TC (57,2%). Normal genotype (TT) were more frequent in distal hypospadias, and Heterozygous polymorphisms (TC) was higher in proximal hypospadias. The ESR1 Xba1 gene polymorphism was dominated by the A allele which is a wild-type allele and the AA + AG genotype (76,1%). Normal genotype (AA) was more frequent in distal hypospadias, and both heterozygous hypospadias (AG) and homozygous hypospadias (GG) were found only in proximal hypospadias. The ESR1 SNP 12 gene polymorphisms were found in the combination of genotypes that played a role, namely GA + AA (81%) and the G allele which is a wild-type allele. Heterozygous polymorphisms (GA) was the most finding genotype and more frequent in proximal hypospadias. Conclusion: ESR1 gene polymorphisms (PvuII, XbaI, and SNP 12) were found in hypos- padias patients. ESR1 polymorphisms may correlate with the severity of hypospadias. Further research with a larger sample and better hypospadias grouping is needed to confirm.