A comprehensive meta-analysis to identify susceptibility genetic variants for precocious puberty

IF 1 4区生物学 Q4 GENETICS & HEREDITY Annals of Human Genetics Pub Date : 2023-11-06 DOI:10.1111/ahg.12525

Xiuli Gu, Weining Xiong, Yan Yang, Honggang Li, Chengliang Xiong

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Abstract

Purpose

Currently, several genetic variants in ERα gene (rs2234693 and rs9340799), ERβ gene (rs1256049 and rs4986938), KISS1 gene (rs4889, rs1132506 and rs5780218), LIN28B gene (rs314263, rs314276 and rs314280), and MKRN3 gene (rs2239669) have been repeatedly explored for their contribution to precocious puberty (PP) susceptibility. However, the results remain conflicting rather than conclusive. We here performed a meta-analysis to identify the real susceptibility genetic variants for PP.

Methods

After screening by inclusion criteria, 20 related studies were finally included in this meta-analysis. The odds ratios and 95% confidence intervals were calculated to assess the strength of association. Sensitive analysis, publication bias, and trial sequential analysis (TSA) were performed to evaluate the stability and reliability of results.

Results

Rs2234693, rs9340799, and rs1256049 were significantly associated with PP susceptibility (p < 0.0084). Stratified analysis according to ethnicity showed that rs2234693 and rs9340799 were significantly associated with PP susceptibility in Asian and Chinese populations. Stratified analysis according to PP subtype showed that rs2234693 and rs9340799 were significantly associated with idiopathic central PP susceptibility in Asian and Chinese populations (p < 0.0084). The results of publication bias, sensitivity analysis, and TSA provided solid evidence for the association between these three variants and PP susceptibility.

Conclusions

Rs2234693 and rs9340799 in ERα gene and rs1256049 in ERβ gene may serve as susceptive factors for PP development. The present finding should be confirmed in replication studies and reinforced in functional studies, which will ultimately improve the feasibility of the application of these three PP-susceptible loci in clinical practice.

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确定性早熟易感性遗传变异的综合荟萃分析。

目的：目前，ERα基因（rs2234693和rs9340799）、ERβ基因（rs1256049和rs4986938）、KISS1基因（rs4889、rs1132506和rs5780218）、LIN28B基因（rs314263、rs314276和rs314280）和MKRN3基因（rs223 9669）中的几种遗传变异已被反复探讨其对性早熟（PP）易感性的贡献。然而，结果仍然是矛盾的，而不是决定性的。我们进行了一项荟萃分析，以确定PP的真正易感性遗传变异。方法：通过纳入标准筛选，最终将20项相关研究纳入该荟萃分析。计算比值比和95%置信区间以评估关联强度。进行敏感性分析、发表偏倚和试验序列分析（TSA）来评估结果的稳定性和可靠性。结果：Rs234693、rs9340799，和rs1256049与PP易感性显著相关（p结论：ERα基因中的Rs234693和rs9340799以及ERβ基因中的rs1256049可能是PP发生的易感因素。这一发现应在复制研究中得到证实，并在功能研究中得到加强，这将最终提高这三个PP易感基因座在临床应用中的可行性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Annals of Human Genetics 生物-遗传学

CiteScore

4.20

自引率

0.00%

发文量

审稿时长

3 months

期刊介绍： Annals of Human Genetics publishes material directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Papers that describe work on other species that may be relevant to human genetics will also be considered. Mathematical models should include examples of application to data where possible. Authors are welcome to submit Supporting Information, such as data sets or additional figures or tables, that will not be published in the print edition of the journal, but which will be viewable via the online edition and stored on the website.