Abstract
INTRODUCTION: Anti-Müllerian hormone (AMH) has been variably associated with cancer risk. This study integrated a meta-analysis, Mendelian randomization (MR), and transcriptomic analyses to clarify the relationship between AMH levels and various cancers. METHODS: We systematically reviewed observational studies from three major databases up to 2024 and selected 10 independent SNPs (r² < 0.001, P < 1 × 10⁻⁶) from GWAS meta-analyses (n = 7049) as instrumental variables. Cancer outcome data were obtained from the FinnGen database and additional GWAS datasets, while transcriptomic data from TCGA and GEO were analyzed across 33 tumor types. RESULTS: The meta-analysis showed no overall significant association between circulating AMH and cancer risk (MD: -0.12; 95% CI: -0.38, 0.14). However, subgroup analysis showed that AMH concentration in the control group was different from patients with breast cancer and haematological malignancies. MR analysis revealed that increased AMH levels were causally linked to reduced risks of bladder cancer, melanoma, multiple myeloma, and thyroid cancer. Additionally, transcriptomic findings highlighted a significant association between AMH expression and patient prognosis, with AMH expression correlating with diverse immune cell infiltration patterns and signaling pathways. CONCLUSIONS: Our findings indicate a potential involvement of AMH in the development of cancer, suggesting the need for further clinical research to explore the possibility of targeting AMH for cancer prevention and diagnosis.