Uncovering the shared genetic components of thyroid disorders and reproductive health.

IF 5.3 1区医学 Q1 ENDOCRINOLOGY & METABOLISM European Journal of Endocrinology Pub Date : 2024-08-05 DOI:10.1093/ejendo/lvae094

Jéssica Figuerêdo, Kristi Krebs, Natàlia Pujol-Gualdo, Toomas Haller, Urmo Võsa, Vallo Volke, Triin Laisk, Reedik Mägi

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Abstract

Objective: The aim of the study is to map the shared genetic component and relationships between thyroid and reproductive health traits to improve the understanding of the interplay between those domains.

Design: A large-scale genetic analysis of thyroid traits (hyper- and hypothyroidism, and thyroid-stimulating hormone levels) was conducted in up to 743 088 individuals of European ancestry from various cohorts.

Methods: We evaluated genetic associations using genome-wide association study (GWAS) meta-analysis, GWAS Catalog lookup, gene prioritization, mouse phenotype lookup, and genetic correlation analysis.

Results: GWAS meta-analysis results for thyroid phenotypes showed that 50 lead variants out of 253 (including 5/52 of the novel hits) were linked to reproductive health in previous literature. Genetic correlation analyses revealed significant correlations between hypothyroidism and reproductive phenotypes. The results showed that 31.9% of thyroid-associated genes also had an impact on reproductive phenotypes, with the most affected functions being related to genitourinary tract issues.

Conclusions: The study discovers novel genetic loci linked to thyroid phenotypes and highlights the shared genetic determinants between thyroid function and reproductive health, providing evidence for the genetic pleiotropy and shared biological mechanisms between these traits in both sexes.

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揭示甲状腺疾病和生殖健康的共同遗传因素。

研究目的该研究旨在绘制甲状腺和生殖健康特征之间的共同遗传成分和关系图，以加深对这些领域之间相互作用的理解：对来自不同队列的多达 743,088 名欧洲血统的个体进行了甲状腺性状（甲状腺功能亢进和甲状腺功能减退以及促甲状腺激素水平）的大规模遗传分析。我们采用全基因组关联研究荟萃分析、GWAS 目录查询、基因优先排序、小鼠表型查询和遗传相关性分析等方法评估了遗传关联：甲状腺表型的全基因组关联研究荟萃分析结果显示，253个先导变异中有50个（包括5/52个新发现变异）与以往文献中的生殖健康有关。遗传相关性分析表明，甲状腺功能减退症与生殖表型之间存在显著相关性。结果显示，31.9%的甲状腺相关基因对生殖表型也有影响，受影响最大的功能与泌尿生殖道问题有关：结论：这项研究发现了与甲状腺表型相关的新基因位点，并强调了甲状腺功能与生殖健康之间的共同遗传决定因素，为男女两性这些性状之间的遗传多效性和共同生物学机制提供了证据。

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

European Journal of Endocrinology 医学-内分泌学与代谢

CiteScore

9.80

自引率

3.40%

发文量

354

审稿时长

1 months

期刊介绍： European Journal of Endocrinology is the official journal of the European Society of Endocrinology. Its predecessor journal is Acta Endocrinologica. The journal publishes high-quality original clinical and translational research papers and reviews in paediatric and adult endocrinology, as well as clinical practice guidelines, position statements and debates. Case reports will only be considered if they represent exceptional insights or advances in clinical endocrinology. Topics covered include, but are not limited to, Adrenal and Steroid, Bone and Mineral Metabolism, Hormones and Cancer, Pituitary and Hypothalamus, Thyroid and Reproduction. In the field of Diabetes, Obesity and Metabolism we welcome manuscripts addressing endocrine mechanisms of disease and its complications, management of obesity/diabetes in the context of other endocrine conditions, or aspects of complex disease management. Reports may encompass natural history studies, mechanistic studies, or clinical trials. Equal consideration is given to all manuscripts in English from any country.