Polymorphism analysis of estrogen receptor β Gene RsaI and AluI in girls with idiopathic central precocious puberty: investigating the relationship and implications for early risk prediction - Summary - MDSpire
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Polymorphism analysis of estrogen receptor β Gene RsaI and AluI in girls with idiopathic central precocious puberty: investigating the relationship and implications for early risk prediction
To investigate the association between estrogen receptor β (ERβ) gene RsaI (rs1256049) and AluI (rs4986938) polymorphisms and the risk of idiopathic central precocious puberty (ICPP) in girls, providing potential molecular genetic references for early risk prediction and individualized management of ICPP.
Key Findings:
Significant differences in genotype distribution and R allele frequency for the RsaI polymorphism between ICPP and control groups (P < 0.05).
The R allele was associated with an increased risk of ICPP (OR = 1.58, 95% CI: 1.05–2.38).
No significant differences were found for the AluI polymorphism (P > 0.05).
Haplotype analysis showed a significant difference in overall haplotype distribution, with the Rraa haplotype more frequent in the ICPP group (39% vs. 31%).
Interpretation:
The ERβ gene RsaI polymorphism is significantly associated with the risk of ICPP in girls, suggesting potential for early risk assessment.
Limitations:
The study's sample size is limited to 100 cases and 100 controls, which may affect the generalizability of the results.
Further multicenter studies with larger sample sizes are needed to validate the results.
Conclusion:
The findings suggest that ERβ RsaI genotyping and haplotype analysis could contribute to early risk assessment for ICPP, although further multicenter studies with larger sample sizes are warranted to validate the results.
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