Related Experiment Video
Updated: Aug 15, 2026

Visualization of Estrogen Receptors in Colons of Mice with TNBS-Induced Crohn's Disease using Immunofluorescence
Published on: March 12, 2020
Gender dependent association between perinatal morbidity and estrogen receptor-alpha Pvull polymorphism
László Derzbach1, András Treszl, Adám Balogh
1Ist Department of Pediatrics, Semmelweis University Budapest, Hungary. derla@gyer1@sote.hu
Insights
The estrogen receptor-alpha (ER-alpha) gene Pvull pP polymorphism shows gender-dependent associations with infant health. The "p" allele may protect boys from certain conditions, while specific genotypes increase risks for complications.
Area of Science:
- Perinatal Medicine
- Genetics
- Endocrinology
Background:
- Estrogen plays a crucial role in perinatal physiology.
- Genetic variations, such as polymorphisms in the estrogen receptor-alpha (ER-alpha) gene, may influence infant health outcomes.
- The ER-alpha Pvull pP polymorphism is investigated for its potential impact on perinatal morbidity.
Purpose of the Study:
- To examine the association between the ER-alpha gene Pvull pP polymorphism and perinatal morbidity in premature infants.
- To determine if this genetic variation influences specific health complications in newborns.
Main Methods:
- Genotyping for the ER-alpha Pvull pP polymorphism was performed on a cohort of low-birth weight and term infants (boys and girls).
- Binary logistic regression analysis was used to assess the relationship between risk factors, genotype, gender, and perinatal morbidity.
- Specific outcomes analyzed included necrotizing enterocolitis, patent ductus arteriosus, oxygen supplementation duration, and intraventricular hemorrhage.
Main Results:
- In boys, carrying the "p" allele was associated with a reduced risk of necrotizing enterocolitis and patent ductus arteriosus.
- The "p" allele carrier state in boys correlated with a significantly shorter duration of oxygen supplementation.
- Conversely, boys with the "pp" genotype exhibited an increased risk for intraventricular hemorrhage.
- No significant associations were found between the ER-alpha Pvull polymorphism and morbidity in girls.
Conclusions:
- Homozygosity for ER-alpha Pvull alleles (PP or pp genotypes) appears to elevate the risk for common perinatal complications.
- The heterozygous carrier state of Pvull genotypes may confer a protective effect against perinatal morbidity.
- This protective effect, if present, is dependent on the infant's gender.
Aims:
Assuming the importance of estrogen in perinatal physiology, we tested the association of an estrogen receptor-alpha (ER-alpha) gene Pvull pP polymorphism with perinatal morbidity in premature infants.
Methods:
The ER-alpha Pp genotype was determined in 69 low-birth weight (LBW) boys and 72 LBW girls, 86 term boys and 81 term girls. The association between risk factors, genotype, gender and perinatal morbidity was tested with binary logistic regression analysis.
Results:
Boys carrying "p" allele were at lower risk for necrotizing enterocolitis (OR [95% Cl]: 0.24 [0.07-0.83]) and patent ductus arteriosus (OR [95% Cl]: 0.24 [0.05-0.97]). The carrier state of the "p" allele was associated with a 34-h shorter period of oxygen supplementation on average (P=0.0018). Boys with pp genotype were at greater risk for intraventricular hemorrhage (OR [95% Cl]: 4.39 [1.15-16.82]). No association between ER-alpha Pvull polymorphism and morbidity was present in girls.
Conclusions:
Since homozygocity for any Pvull alleles (i.e. having PP or pp genotype) increases the risk for at least one of the most common perinatal complications, it is likely that the heterozygous carrier state of Pvull genotypes has a protective effect, which is gender-dependent.
Related Concept Videos
Oogenesis
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Sex-linked Disorders
Teratogenicity