Gene Polymorphisms Associated with Central Precocious Puberty and Hormone Levels in Chinese Girls

Area of Science:

• Genetics
• Endocrinology
• Pediatrics

Background:

• Central precocious puberty (CPP) in females is linked to adverse health outcomes.
• The precise genetic underpinnings and pathogenesis of CPP remain largely unknown.
• Identifying genetic factors associated with CPP is crucial for understanding its development.

Purpose of the Study:

• To investigate the association between single nucleotide polymorphisms (SNPs) in eight genes and the risk of CPP.
• To explore the relationship between these genetic variants and hormone levels in girls with CPP.
• To identify potential genetic markers for CPP susceptibility and progression.

Main Methods:

• A case-control study involving 247 girls with CPP and 243 controls was conducted.
• Genotyping of 20 SNPs across eight genes was performed using a case-control design.
• Hormone levels, including peak and basal FSH and IGF, were analyzed in relation to identified polymorphisms.

Main Results:

• Five SNPs in KISS1 and SIRT1 genes (rs10159082, rs7538038, rs5780218, rs7895833, rs3758391) were associated with increased CPP risk.
• SNPs rs3740051 in SIRT1 and rs1544410 in VDR were associated with a reduced risk of CPP.
• VDR gene variants (rs1544410, rs7975232, rs731236) showed negative correlations with FSH and IGF levels.

Conclusions:

• Genetic variants in KISS1, SIRT1, and VDR are associated with susceptibility to CPP in Chinese females.
• VDR gene polymorphisms significantly influence hormone levels, particularly FSH and IGF, in girls with CPP.
• The VDR polymorphism rs1544410 is notably linked to both CPP risk and GnRH-stimulated peak FSH levels, warranting further investigation.