The contribution of PLCB1 and VDR gene variants to susceptibility of central precocious puberty in Hubei Han Chinese girls: Integrating case-control evidence with meta-analysis.

INTRODUCTION

Central precocious puberty (CPP) is a prevalent pediatric endocrine disorder resulting from the premature activation of the hypothalamic-pituitary-gonadal (HPG) axis. PLCB1 acts downstream of the KISS1/GPR54 signaling pathway to mediate gonadotropin-releasing hormone (GnRH) secretion, a key event in pubertal initiation. Moreover, VDR is widely expressed in breast tissue, modulates glandular development, and low serum vitamin D levels have been associated with an elevated risk of CPP. This research aimed to investigate the association between genetic variants in the PLCB1 and VDR genes and CPP susceptibility in Hubei Han Chinese girls.

METHODS

A total of 384 CPP girls and 422 healthy girls from Hubei province were enrolled in this case-control study, which targeted three PLCB1 gene variants (rs932491, rs2235613, rs708910) and three VDR gene variants (rs731236, rs7975232, rs1544410). A comprehensive meta-analysis integrating this study and existing literature was subsequently conducted.

RESULTS

For the rs708910, the A allele and AA genotype were identified as protective factors against CPP risk. For the rs7975232, the C allele and CC genotype were significantly associated with a reduced risk of CPP. The subsequent meta-analysis confirmed that both rs708910 and rs7975232 were robustly linked to CPP susceptibility in the Chinese population.

CONCLUSION

The PLCB1 gene rs708910 and VDR gene rs7975232 may represent potential risk-associated variants for CPP in Han Chinese girls. These findings warrant validation in future large-scale, multi-ethnic cohort studies.