PMID- 33659223
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220421
IS  - 2253-2447 (Print)
IS  - 2253-2447 (Electronic)
IS  - 2253-2447 (Linking)
VI  - 13
DP  - 2021
TI  - Polymorphism of PvuII, Xba1, and SNP 12 Estrogen Receptor 1 (ESR1) in Hipospadias 
      Patients at Tertiary Hospital Center.
PG  - 105-110
LID - 10.2147/RRU.S296941 [doi]
AB  - 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 polymorphism 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 
      hypospadias patients. ESR1 polymorphisms may correlate with the severity of 
      hypospadias. Further research with a larger sample and better hypospadias 
      grouping is needed to confirm.
CI  - (c) 2021 Siregar et al.
FAU - Siregar, Safendra
AU  - Siregar S
AD  - Department of Urology, Faculty of Medicine Universitas Padjadjaran, General 
      Hospital Hasan Sadikin Bandung, Indonesia.
FAU - Sibarani, Jupiter
AU  - Sibarani J
AUID- ORCID: 0000-0001-8861-053X
AD  - Department of Urology, Faculty of Medicine Universitas Padjadjaran, General 
      Hospital Hasan Sadikin Bandung, Indonesia.
FAU - Noegroho, Bambang Sasongko
AU  - Noegroho BS
AD  - Department of Urology, Faculty of Medicine Universitas Padjadjaran, General 
      Hospital Hasan Sadikin Bandung, Indonesia.
FAU - Firmansyah, Irfan
AU  - Firmansyah I
AD  - Department of Urology, Faculty of Medicine Universitas Padjadjaran, General 
      Hospital Hasan Sadikin Bandung, Indonesia.
FAU - Maskoen, Ani Melani
AU  - Maskoen AM
AD  - Department of Molecular Genetic Laboratory Universitas Padjadjaran, Bandung City, 
      West Java Province, Indonesia.
LA  - eng
PT  - Journal Article
DEP - 20210225
PL  - England
TA  - Res Rep Urol
JT  - Research and reports in urology
JID - 101576971
PMC - PMC7920578
OTO - NOTNLM
OT  - estrogen receptor 1
OT  - hypospadias
OT  - polymorphism
COIS- The authors report no conflicts of interest in this work.
EDAT- 2021/03/05 06:00
MHDA- 2021/03/05 06:01
PMCR- 2021/02/25
CRDT- 2021/03/04 05:55
PHST- 2020/12/16 00:00 [received]
PHST- 2021/01/18 00:00 [accepted]
PHST- 2021/03/04 05:55 [entrez]
PHST- 2021/03/05 06:00 [pubmed]
PHST- 2021/03/05 06:01 [medline]
PHST- 2021/02/25 00:00 [pmc-release]
AID - 296941 [pii]
AID - 10.2147/RRU.S296941 [doi]
PST - epublish
SO  - Res Rep Urol. 2021 Feb 25;13:105-110. doi: 10.2147/RRU.S296941. eCollection 2021.