School of Public Health, Shanghai Jiao Tong University, Shanghai, China.
Pediatric Translational Medicine Institute, Shanghai Children's Medical Center, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.
Pediatr Res. 2024 Sep;96(4):1076-1083. doi: 10.1038/s41390-024-03168-6. Epub 2024 Apr 22.
Obesity is an important cause for the precocious or early puberty. However, the association between obesity-related loci and the risk of precocious puberty as well as the effect of gene-environment interaction are unclear, especially in the Chinese children population.
This was a case-control study using baseline data from two cohorts and hospital cases in China. 15 SNPs loci and several environmental factors were included in the analysis of 1201 participants. Chi-square test and logistic regression were used to analyze the association between SNPs and precocious puberty. Additionally, exploratory factor analysis was conducted on 13 environmental variables, and then to explore their interaction with genes on precocious puberty.
The effect allele C of rs571312, and G of rs12970134 MC4R were associated with precocious puberty in girls with obesity. Regarding the gene-environment interaction, we found that when girls were in the high socioeconomic status, the rs571312 (OR: 3.996; 95% CI: 1.694-9.423) and rs12970134 (OR: 3.529; 95% CI: 1.452-8.573) risk genotypes had a greater effect on precocious puberty.
The obesity risk gene polymorphisms MC4R rs571312 and rs12970134 were associated with precocious puberty in Chinese girls with obesity, and girls with risk genotypes and high socioeconomic status should be given extra attention.
This is the first study that identified the association between rs571312 and rs12970134 of MC4R gene and precocious puberty in Chinese children. We found that when girls were in the high socioeconomic status, the risk genotypes of rs571312 and rs12970134 had a greater effect on precocious puberty. The results of this study have great public health implications. It is recommended that girls who are in high socioeconomic status and have a high genetic risk for early sexual maturity should closely monitor their pubertal development and consider early intervention strategies.
肥胖是性早熟或青春期提前的一个重要原因。然而，肥胖相关基因座与性早熟风险之间的关联以及基因-环境相互作用的影响尚不清楚，特别是在中国儿童人群中。
这是一项病例对照研究，使用了中国两个队列和医院病例的基线数据。在对 1201 名参与者的分析中，纳入了 15 个 SNP 基因座和几个环境因素。采用卡方检验和逻辑回归分析 SNP 与性早熟之间的关系。此外，对 13 个环境变量进行了探索性因子分析，然后探讨它们与性早熟的基因相互作用。
肥胖女孩中 rs571312 的效应等位基因 C 和 rs12970134 的 G 与性早熟有关。关于基因-环境相互作用，我们发现当女孩处于高社会经济地位时，rs571312（OR：3.996；95%CI：1.694-9.423）和 rs12970134（OR：3.529；95%CI：1.452-8.573）风险基因型对性早熟的影响更大。
MC4R 基因 rs571312 和 rs12970134 的肥胖风险基因多态性与中国肥胖女孩的性早熟有关，具有风险基因型和高社会经济地位的女孩应格外关注。
这是第一项确定中国儿童中 MC4R 基因 rs571312 和 rs12970134 与性早熟之间关联的研究。我们发现，当女孩处于高社会经济地位时，rs571312 和 rs12970134 的风险基因型对性早熟的影响更大。这项研究的结果具有重要的公共卫生意义。建议对处于高社会经济地位且具有早期性成熟高遗传风险的女孩密切监测其青春期发育，并考虑早期干预策略。
