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Analysis code and derived data: pigmentation-pathway causality in keratinocyte carcinogenesis (ASIP-MC1R axis versus immune-protease signals)

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Zenodo2026-09-25 更新2026-10-01 收录
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Derived result tables, analysis scripts and figures supporting a cis-pQTL Mendelian randomization study of actinic keratosis, cutaneous squamous cell carcinoma and basal cell carcinoma (FinnGen R13, replicated in UK Biobank C44). Colocalization identifies the ASIP/NXPH4 pigmentation locus as the only protein-layer signal shared with disease within the primary window, while replicated immune-protein and cell-type eQTL signals fail colocalization. This record replaces 10.5281/zenodo.22948358 and adds: (i) the unrestricted cis-plus-trans pQTL MR tables, which show that trans instruments produce the largest apparent effects; (ii) UK Biobank C44 side colocalization for CTSS as well as ASIP; (iii) a pigmentation-trait layer (ASIP-pQTL colocalization with eight pigmentation traits across four windows and four prior settings, with negative controls, and pigmentation-phenotype Mendelian randomization with heterogeneity, MR-Egger, weighted median and leave-one-out sensitivity analyses); (iv) Steiger directionality tests; and (v) a versioning note: results/superseded_pre_fix/ holds the tables produced before the FinnGen column-order fix, with a README explaining why they must not be used. Contents: results.zip (every derived table), scripts.zip (the full pipeline, t1_00-t1_28, including both verification suites), figures.zip (main figures as PNG and 300-dpi LZW TIFF) and DEPOSIT_README.md, which states which generation of each table is authoritative.

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Zenodo
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2026-09-25
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