{"id":403,"title":"The genome-wide puzzle: utilizing GWAS to unveil the genetic architecture of polyendocrine metabolic ovarian syndrome","title_zh":"全基因组拼图：利用GWAS揭示多内分泌代谢性卵巢综合征的遗传结构","url":"https://pubmed.ncbi.nlm.nih.gov/42897271","doi":"10.1038/s41574-026-01316-y","pmid":"42897271","journal":"Nat Rev Endocrinol","kind":"paper","lang":"en","published_at":"2026-10-19T00:00:00+00:00","fetched_at":"2026-11-08T03:44:12+00:00","authors":["Williams S"],"primary_topic":"oocyte","topics":[{"slug":"oocyte","score":3.0,"hits":["ovarian"]},{"slug":"repro-genetics","score":3.0,"hits":["gwas"]}],"topic_score":3.0,"preference_score":0.0,"preference_labels":[],"llm_score":70.0,"final_score":78.0,"score_dims":{"novelty":58,"rigor":60,"impact":76,"relevance":72,"translation":62},"recommend_reason":"PCOS是生殖内分泌与ART人群的高频共病，顶级综述期刊的系统梳理有助于把握遗传架构与代谢-生殖交叉的机制线索；但属综述性整合、无原始数据，且缺摘要，适合作为背景更新而非必读新发现。","keywords":["多囊卵巢综合征","GWAS","遗传结构","生殖内分泌","代谢综合征"],"selected":1,"story_id":368,"llm_provider":"deepseek","llm_model":"deepseek-flash","llm_effort":"low","source_key":"pubmed-top-journals","source_name":"PubMed · CNS/大子刊/四大医学刊（生殖相关）","source_tier":1,"mention_count":1,"has_interpretation":false,"journal_key":"nrendo","journal_tier":"cns-sub","journal_if":31.0,"is_mock":false,"summary_zh":"本文为《Nature Reviews Endocrinology》发表的综述（作者 Williams S），主题是利用全基因组关联研究（GWAS）解析多内分泌代谢性卵巢综合征（即多囊卵巢综合征，PCOS）的遗传结构。原文未提供摘要，因此文中具体的GWAS位点、样本量、效应估计及结论无法核实；从题目看，文章可能系统梳理已发现的易感基因座，讨论生殖内分泌与代谢通路的共享遗传基础，以及GWAS结果向机制解释和临床风险分层转化的路径。读者需查阅全文以获取确切数据。","summary":"","interpretation_basis":null,"fulltext_status":null,"interpretation":null,"fulltext":{"available":false,"status":null,"reason":"尚未抓取全文（未入选、分数未达阈值，或还没跑 fulltext 步骤）","pmcid":null,"license":null,"chars":0,"source":null,"fetched_at":null}}