{"id":201,"title":"Association between a maternal FOXP3 variant and reproductive stayability in Holstein Friesian cows in Japan","title_zh":"母源FOXP3变异与日本荷斯坦奶牛繁殖存留性的关联","url":"https://pubmed.ncbi.nlm.nih.gov/42968238","doi":"10.1262/jrd.2026-100","pmid":"42968238","journal":"J Reprod Dev","kind":"paper","lang":"en","published_at":"2026-10-30T00:00:00+00:00","fetched_at":"2026-11-08T03:43:57+00:00","authors":["Okawa H","Fushimi Y","Yamato O","Maki S","Widodo OS","Taniguchi M","Takagi M"],"primary_topic":"repro-genetics","topics":[{"slug":"repro-endo","score":2.0,"hits":["amh","anti-müllerian"]},{"slug":"oocyte","score":1.0,"hits":["ovarian reserve"]},{"slug":"repro-immunology","score":1.0,"hits":["maternal immune"]},{"slug":"ethics-policy","score":1.0,"hits":["regulatory"]}],"topic_score":2.0,"preference_score":0.0,"preference_labels":[],"llm_score":62.0,"final_score":62.0,"score_dims":{"novelty":68,"rigor":66,"impact":52,"relevance":58,"translation":45},"recommend_reason":"为奶牛繁殖遗传与免疫耐受提供关联证据，但样本量有限且缺乏功能验证，对人类ART直接转化有限；关注生殖免疫或动物模型者可浏览。","keywords":["FOXP3","奶牛","繁殖存留性","AMH","免疫耐受","遗传变异"],"selected":1,"story_id":272,"llm_provider":"deepseek","llm_model":"deepseek-flash","llm_effort":"low","source_key":"pubmed-gametes","source_name":"PubMed · 配子与性腺","source_tier":1,"mention_count":2,"has_interpretation":false,"journal_key":"j-reprod-dev","journal_tier":"standard","journal_if":1.4,"is_mock":false,"summary_zh":"研究对日本两个奶牛场118头泌乳荷斯坦牛进行FOXP3变异g.87298881A>G分型，最终分析117头（A/A 35、A/G 56、G/G 26），ELISA测血清AMH并随访繁殖结局。三组AMH无显著差异；Kaplan-Meier显示G/G与A/G妊娠时间差异显著（P=0.026），G/G未孕更久。Cox分析显示G/G妊娠风险较低（未校正HR=0.583，P=0.046；校正农场和胎次后aHR=0.45，P=0.004）。提示FOXP3风险基因型与繁殖性能受损相关，且不能仅由卵巢储备解释，支持免疫机制假说。","summary":"Reproductive failure is a major cause of economic loss and involuntary culling in dairy herds, with endocrine and immunogenetic factors contributing to impaired fertility. FOXP3 modulates regulatory T cells, which play an essential role in maternal immune tolerance during pregnancy. A maternal X-linked FOXP3 variant (g.87298881A>G) has been associated with impaired fertility and reduced anti-Müllerian hormone (AMH) concentrations in cattle; however, its association with reproductive performance and herd stayability remains unclear. This study investigated the associations of the FOXP3 variant with serum AMH concentrations and reproductive performance in Japanese Holstein Friesian cows. A total of 118 lactating cows from two dairy farms in Japan were genotyped using real-time PCR or Sanger sequencing. After excluding one cow that died from an acute condition unrelated to reproductive or production performance, 117 cows (A/A, n = 35; A/G, n = 56; G/G, n = 26) were included in the final analyses. Serum AMH concentrations were measured using an enzyme-linked immunosorbent assay, and reproductive outcomes were monitored during the study period. Serum AMH concentrations did not differ significantly among the three genotype groups. Kaplan-Meier analysis showed a significant difference in time to pregnancy between G/G and A/G cows (P = 0.026), with G/G cows remaining nonpregnant for longer. In the univariate Cox proportional hazards analysis, cows with the FOXP3 risk genotype (G/G) had a lower pregnancy hazard than that of cows with non-risk genotypes (A/A and A/G) (HR = 0.583, 95% CI: 0.343-0.991, P = 0.046). After adjustment for farm and parity, the risk genotype remained significantly associated with a lower pregnancy hazard (adjusted HR = 0.45, 95% CI: 0.26-0.77, P = 0.004). These findings suggest that the FOXP3 risk genotype is associated with impaired reproductive performance, independent of farm and parity. The absence of a significant difference in serum AMH concentrations further suggests that this association cannot be explained solely by differences in ovarian reserve and raises the hypothesis that FOXP3-related immunological mechanisms contribute to the establishment and maintenance of pregnancy.","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}}