دورية أكاديمية

The Role of SNPs in the Pathogenesis of Idiopathic Central Precocious Puberty in Girls

التفاصيل البيبلوغرافية
العنوان: The Role of SNPs in the Pathogenesis of Idiopathic Central Precocious Puberty in Girls
المؤلفون: Konstantina Toutoudaki, George Paltoglou, Dimitrios T. Papadimitriou, Anna Eleftheriades, Ermioni Tsarna, Panagiotis Christopoulos
المصدر: Children, Vol 10, Iss 3, p 450 (2023)
بيانات النشر: MDPI AG, 2023.
سنة النشر: 2023
المجموعة: LCC:Pediatrics
مصطلحات موضوعية: idiopathic central precocious puberty, single nucleotide polymorphisms, haplotypes, females, girls, genetics, Pediatrics, RJ1-570
الوصف: The initiation of puberty is a crucial timepoint of development, with its disruptions being associated with multiple physical and psychological complications. Idiopathic Central Precocious Puberty (iCPP) has been correlated with Single-Nucleotide Polymorphisms (SNPs) of certain genes that are implicated in various steps of the process of pubertal onset. The aim of this review was to gather current knowledge on SNPs of genes associated with iCPP. We searched articles published on the PubMed, EMBASE and Google Scholar platforms and gathered current literature. KISS1, KISS1R, PLCB1, PRKCA, ITPR1, MKRN3, HPG axis genes, NPVF/NPFFR1, DLK1, KCNK9Q, LIN28B, PROK2R, IGF-1, IGF2, IGF-1R, IGF-2R, IGFBP-3, insulin, IRS-1, LEP/LEPR, PPARγ2, TAC3, TACR3, Estrogen receptors, CYP3A4 and CYP19A1 were studied for implication in the development of precocious puberty. SNPs discovered in genes KISS1, KISS1R, PLCB1, MKRN3, NPVF, LIN28B, PROK2R, IRS-1 TAC3, and CYP3A4 were significantly correlated with CPP, triggering or protecting from CPP. Haplotype (TTTA)13 in CYP19A1 was a significant contributor to CPP. Further investigation of the mechanisms implicated in the pathogenesis of CPP is required to broaden the understanding of these genes’ roles in CPP and possibly initiate targeted therapies.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2227-9067
Relation: https://www.mdpi.com/2227-9067/10/3/450; https://doaj.org/toc/2227-9067
DOI: 10.3390/children10030450
URL الوصول: https://doaj.org/article/a6abc051fa38459fb131cc86aa9f6cbc
رقم الأكسشن: edsdoj.6abc051fa38459fb131cc86aa9f6cbc
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:22279067
DOI:10.3390/children10030450