Evidence mapPaperPMID 41258624Full record

ArticleDiscover oncology2025

Integrative genomic analysis reveals causal relationships between breast mammary tissue gene expression and breast cancer risk using multi-method Mendelian randomization.

Rongrong Xiao, Ruqing Li

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Article in Discover oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

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2 authors.

Rongrong XiaoDepartment of Oncology, Nantong No. 1 People's Hospital, Nantong City, 226000, Jiangsu Province, China. xianyou2025@126.com.
Ruqing LiDepartment of Oncology, The Second Hospital of Nanjing, Nanjing City, 210003, Jiangsu Province, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundUnderstanding the causal relationships between gene expression levels in breast mammary tissue and breast cancer susceptibility is crucial for identifying therapeutic targets and developing prevention strategies. However, traditional observational studies are limited by confounding factors and reverse causation.

methodsWe conducted a comprehensive multi-analytical approach combining Mendelian randomization (MR), summary-based Mendelian randomization (SMR), and transcriptome-wide association study (TWAS) to investigate causal relationships between breast mammary tissue gene expression and breast cancer risk. We utilized large-scale genome-wide association study summary statistics and expression quantitative trait loci data to identify genes with significant causal associations.

resultsMR analysis identified three genes with significant protective effects: APOBEC3B (OR = 0.992, 95% CI: 0.988-0.995), SLC22A5 (OR = 0.983, 95% CI: 0.976-0.991), and CRLF3 (OR = 0.984, 95% CI: 0.976-0.991). TWAS analysis revealed SLC4A7 and NEGR1 as the most significant risk-associated genes, while ZBTB38, RGPD1, and CCDC91 demonstrated protective effects. SMR analysis confirmed the robustness of these associations and revealed additional genes with both protective and risk-enhancing effects across the genome.

conclusionsThis integrative genomic analysis provides robust evidence for causal relationships between specific gene expression patterns in breast mammary tissue and breast cancer risk.

Indexed as

APOBEC3BBreast cancerCausal inferenceGene expressionMammary tissueMendelian randomizationNEGR1SLC4A7SMRTWAS

Identifiers

PMID41258624
PMCPMC12630431

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