Are CYP1A1, CYP17 and CYP1B1 mutation genes involved on girls with precocious puberty? A pilot study

Matsuzaki, Cezar Noboru; Júnior, José Maria Soares; Damiani, Durval; Neto, Raymundo Soares de Azevedo; Carvalho, Kátia Cândido; Holanda, Felisbela Soares de; Stafuzza, Eline Maria; Almeida, José Alcione Macedo; Baracat, Edmund Chada

doi:10.1016/j.ejogrb.2014.07.042

Cited by 4 publications

(3 citation statements)

References 14 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In addition, eight unrelated girls with CPP at age 6 had one of five novel heterozygous loss-of-function mutations in the makeorin ring finger 3 ( MKRN3 ), which normally suppresses or delays GnRH secretion [ 42 ]. Conversely, the mutations and SNPs of four genes were less prevalent in patients with CPP than in controls: the polymorphism (55648176) in the KISS1 gene [ 39 ], the AC haplotype of Lin28B in two positions (SNPs rs4946651, RS369065 ) [ 43 ], and the cytochrome P450 CYP1B1 Eco571 variant (V432 L) [ 44 ]. In addition, leptin levels were significantly higher in the CPP group than those in the control group but SNPs in either the leptin receptor or leptin genes were not able to explain the differences [ 36 ].…”

Section: Discussionmentioning

confidence: 99%

Associations among IGF-1, IGF2, IGF-1R, IGF-2R, IGFBP-3, insulin genetic polymorphisms and central precocious puberty in girls

et al. 2018

View full text Add to dashboard Cite

BackgroundInsulin and insulin-like growth factor (IGF)-1 coupled with growth hormone helps control timing of sexual maturation. Mutations and variants in multiple genes are associated with development or reduced risk of central precocious puberty (CPP).MethodsWe assessed single nucleotide polymorphisms (SNPs) in the IGF-1, IGF-2, IGF-3, IGF-1 receptor (IGF1R), IGF-2 receptor (IGF2R), and IGF -binding protein 3 (IGFBP-3) genes, and their association with demographics and metabolic proteins in girls with CPP. Z-scores of height, weight, and body mass index (BMI) were calculated with the WHO reference growth standards for children.ResultsIGF-1 serum levels of CPP group exhibited a higher correlation with bone age, z-scores of height and weight, and luteinizing hormone (LH) than those of control group, regardless of BMI adjustment. In the CPP group, height was associated with IGF-2(3580), an adenine to guanine (A/G) SNP at position + 3580. BMI in the CPP group was associated with IGF-2(3580), IGF1R, and the combinations of [IGF-2(3580) + IGF2R], and [IGF-2(3580) + IGFBP-3]. Body weight in the CPP group was associated with the combination of [IGF-2(3580) + IGFBP-3] (p = 0.024). Weight and BMI were significantly associated with the combination of [IGF-2(3580) + IGF2R + IGFBP-3] in the CPP group. These associations were not significantly associated with z-scores of weight, height, or BMI. The distribution of these genotypes, haplotypes, and allele frequencies were similar between control and CPP groups.ConclusionsThese known SNPs of these IGF-1 axis genes appear to play minor roles in the risk for development of CPP.Electronic supplementary materialThe online version of this article (10.1186/s12902-018-0271-1) contains supplementary material, which is available to authorized users.

show abstract

Section: Discussionmentioning

confidence: 99%

Associations among IGF-1, IGF2, IGF-1R, IGF-2R, IGFBP-3, insulin genetic polymorphisms and central precocious puberty in girls

et al. 2018

View full text Add to dashboard Cite

show abstract

“…In this direction, some even suggest systematic genetic testing in the presence of a positive family history [ 28 ]. In any case, investigation of the genetic base of early and precocious puberty might take research to new lengths by establishing genetic markers for early diagnosis and aiding the development of targeted pharmacogenetic therapies [ 66 , 82 ].…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2023

View full text Add to dashboard Cite

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.

show abstract

“…Investigations of both common and rare variants in genes identified in GWAS ( LIN28B , TACR3, LEPR, and ESR1 [2**, 33]) have not revealed any definitive associations with precocious puberty [70*, 74–79]. Though some small-scale candidate SNP or gene-association studies of additional candidate gene GNRH1, LHB, FSHB, TTF1, EAP1, NPVF, NPFFR1 (genes biologically linked to gonadotropin signaling) [80–82] and CYP19A1, CYP1A1, CYP17 , and CYP1B1 (genes encoding steroidogenesis enzymes) [83, 84] have reported potential associations, the small size of these studies preclude any definitive conclusions.…”

Section: Central Precocious Pubertymentioning

confidence: 99%

Genetics of pubertal timing

Zhu

Kusa

Chan

2018

Current Opinion in Pediatrics

View full text Add to dashboard Cite

show abstract

Are CYP1A1, CYP17 and CYP1B1 mutation genes involved on girls with precocious puberty? A pilot study

Cited by 4 publications

References 14 publications

Associations among IGF-1, IGF2, IGF-1R, IGF-2R, IGFBP-3, insulin genetic polymorphisms and central precocious puberty in girls

Associations among IGF-1, IGF2, IGF-1R, IGF-2R, IGFBP-3, insulin genetic polymorphisms and central precocious puberty in girls

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

Genetics of pubertal timing

Contact Info

Product

Resources

About