机构：[a]Faculty of Life Science and Biotechnology, Kunming University of Science and Technology, Kunming City, Yunnan Province, China[b]MedicalSchool, Kunming University of Science and Technology, Kunming City, Yunnan Province, China[c]Department of Pharmacy, Kunming Children’sHospital, Kunming City, Yunnan Province, China[d]Department of Clinical Pharmacy, The First People’s Hospital of Yunnan Province/the AffiliatedHospital of Kunming University of Science and Technology, Kunming City, Yunnan Province, China云南省第一人民医院[e]Translational Research Institute of Brain andBrain-Like Intelligence, Shanghai Fourth People’s Hospital, School of Medicine, Tongji University, Shanghai, China
Objectives To explore the association of KISS1, LIN28B, vitamin D receptor (VDR), and estrogen receptor alpha (ER alpha) gene polymorphisms and the risk of early with fast puberty (EFP) risk, and with hormone levels in EFP cases, in Chinese girls.Methods The analysis was based on the data of 141 girls with EFP and 152 girls without EFP. Clinical features were documented, and all SNP genotyping was conducted using SNaPshot method. Statistical analysis was performed to assess the association of the SNPs with EFP risk, and with hormone levels in EFP cases.Results There was a significant association between rs7759938-C polymorphism in the LIN28B gene and the risk for EFP in the recessive (TT + CT vs. CC) model (p = 0.040). Remarkably, rs5780218-delA polymorphism in the KISS1 gene and rs2234693-C polymorphism in the ER alpha gene were significantly associated with peak LH (luteinizing hormone) levels (p = 0.008, 0.045) and peak LH/FSH (follicle-stimulating hormone) ratio (p = 0.007, 0.006). Additionally, on 7 of the 8 variant loci the alleles associated with increased levels of both peak LH levels and peak LH/FSH ratio in EFP cases were also associated with increased CPP risk.Conclusions Our findings indicate that rs7759938-C polymorphism in the LIN28B gene might have a protective effect on EFP susceptibility. The most striking findings of this study is that, rs5780218-delA polymorphism in the KISS1 gene and rs2234693-C polymorphism in the ER alpha gene influenced levels of GnRH-stimulated peak LH and LH/FSH ratio, and in general CPP risk genes might also contributes to the abnormality of hormonal levels in EFP.
基金：
Reserve Talents for Yunnan Province of Medical Science, China [H-2018078]
第一作者机构：[a]Faculty of Life Science and Biotechnology, Kunming University of Science and Technology, Kunming City, Yunnan Province, China[b]MedicalSchool, Kunming University of Science and Technology, Kunming City, Yunnan Province, China[c]Department of Pharmacy, Kunming Children’sHospital, Kunming City, Yunnan Province, China
共同第一作者：
通讯作者：
通讯机构：[b]MedicalSchool, Kunming University of Science and Technology, Kunming City, Yunnan Province, China[e]Translational Research Institute of Brain andBrain-Like Intelligence, Shanghai Fourth People’s Hospital, School of Medicine, Tongji University, Shanghai, China[*a]Translational Research Institute of Brain and Brain-Like Intelligence, Shanghai Fourth People’s Hospital, School of Medicine, Tongji University, Shanghai, 200434, China[*b]Medical School, Kunming University of Science and Technology, Kunming City, 650500, Yunnan Province, China
推荐引用方式(GB/T 7714)：
Li Yunwei,Zhang Huifeng,Li Qiang,et al.Association of the KISS1, LIN28B, VDR and ER alpha gene polymorphisms with early and fast puberty in Chinese girls[J].GYNECOLOGICAL ENDOCRINOLOGY.2023,39(1):doi:10.1080/09513590.2023.2181653.
APA：
Li, Yunwei,Zhang, Huifeng,Li, Qiang,Huang, Xinwei&Kong, Xiangyang.(2023).Association of the KISS1, LIN28B, VDR and ER alpha gene polymorphisms with early and fast puberty in Chinese girls.GYNECOLOGICAL ENDOCRINOLOGY,39,(1)
MLA：
Li, Yunwei,et al."Association of the KISS1, LIN28B, VDR and ER alpha gene polymorphisms with early and fast puberty in Chinese girls".GYNECOLOGICAL ENDOCRINOLOGY 39..1(2023)
