{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T05:51:26Z","timestamp":1781675486010,"version":"3.54.5"},"reference-count":34,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T00:00:00Z","timestamp":1781654400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"\n Objective<\/jats:title>\n \n To investigate the association between estrogen receptor \u03b2 (\n ER\u03b2<\/jats:italic>\n ) gene RsaI (rs1256049) and AluI (rs4986938) polymorphisms and the risk of idiopathic central precocious puberty (ICPP) in girls, and to provide potential molecular genetic references for early risk prediction and individualized management of ICPP.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n A total of 100 girls with ICPP from the Pediatric Endocrinology Clinic and Inpatient Ward of Shenzhen Maternity &amp; Child Healthcare Hospital were enrolled, and 100 agematched healthy girls undergoing routine physical examinations during the same period served as controls. The RsaI and AluI polymorphisms of the\u00a0\n ER\u03b2<\/jats:italic>\n \u00a0gene were genotyped using polymerase chain reactionrestriction fragment length polymorphism (PCRRFLP). Genotype and allele frequencies were compared between the two groups, and haplotype analysis was performed to evaluate combined effects of the two loci.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n 1.For the\u00a0\n ER\u03b2<\/jats:italic>\n \u00a0RsaI polymorphism, significant differences were observed between the ICPP and control groups in both genotype distribution (\n \u03c7<\/jats:italic>\n 2<\/jats:sup>\n = 5.96,\u00a0\n P<\/jats:italic>\n \u00a0= 0.04) and R allele frequency (41.50% vs. 30.00%;\u00a0\n \u03c7<\/jats:italic>\n 2<\/jats:sup>\n = 4.77,\u00a0\n P<\/jats:italic>\n \u00a0= 0.03). The R allele was associated with an increased risk of ICPP (odds ratio [OR] = 1.58, 95% confidence interval [CI]: 1.05\u20132.38,\u00a0\n P<\/jats:italic>\n \u00a0&lt; 0.05). 2.For the AluI polymorphism, no significant differences were found in either genotype distribution or A allele frequency between the two groups (\n P<\/jats:italic>\n \u00a0&gt; 0.05). 3.Haplotype analysis of the combined RsaI and AluI polymorphisms showed a significant difference in overall haplotype distribution between the two groups (Fisher\u2019s exact test,\u00a0\n P<\/jats:italic>\n \u00a0= 0.02). The Rraa haplotype was more frequent in the ICPP group (39%) than in controls (31%).\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n The\u00a0\n ER\u03b2<\/jats:italic>\n \u00a0gene RsaI polymorphism is significantly associated with the risk of ICPP in girls. The R allele may be a susceptibility factor, and carriers of the Rr genotype appear to have a higher risk of developing ICPP. The Rraa haplotype may represent a potential risk factor for ICPP. In contrast, the AluI polymorphism shows no significant association with ICPP. These findings suggest that\u00a0\n ER\u03b2<\/jats:italic>\n \u00a0RsaI genotyping and haplotype analysis could contribute to early risk assessment, although further multicenter studies with larger sample sizes are warranted to validate the results.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.3389\/fendo.2026.1809152","type":"journal-article","created":{"date-parts":[[2026,6,17]],"date-time":"2026-06-17T04:52:46Z","timestamp":1781671966000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Polymorphism analysis of estrogen receptor \u03b2 Gene RsaI and AluI in girls with idiopathic central precocious puberty: investigating the relationship and implications for early risk prediction"],"prefix":"10.3389","volume":"17","author":[{"given":"Peipei","family":"Liu","sequence":"first","affiliation":[{"name":"Shenzhen Maternity and Child Healthcare Hospital, Women and Children\u2019s Medical Center, Southern Medical University","place":["Shenzhen, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guoqing","family":"Dong","sequence":"additional","affiliation":[{"name":"Shenzhen Maternity and Child Healthcare Hospital, Women and Children\u2019s Medical Center, Southern Medical University","place":["Shenzhen, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mingzhu","family":"Li","sequence":"additional","affiliation":[{"name":"Shenzhen Maternity and Child Healthcare Hospital, Women and Children\u2019s Medical Center, Southern Medical University","place":["Shenzhen, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miao","family":"Huang","sequence":"additional","affiliation":[{"name":"Shenzhen Maternity and Child Healthcare Hospital, Women and Children\u2019s Medical Center, Southern Medical University","place":["Shenzhen, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiyan","family":"Lu","sequence":"additional","affiliation":[{"name":"Shenzhen Maternity and Child Healthcare Hospital, Women and Children\u2019s Medical Center, Southern Medical University","place":["Shenzhen, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianxu","family":"Li","sequence":"additional","affiliation":[{"name":"Shenzhen Maternity and Child Healthcare Hospital, Women and Children\u2019s Medical Center, Southern Medical University","place":["Shenzhen, Guangdong, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,6,17]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"82","DOI":"10.1186\/s13148-024-01683-1","article-title":"Methylome analysis in girls with idiopathic central precocious puberty","volume":"16","author":"Palumbo","year":"2024","journal-title":"Clin 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