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診療報酬「本体」0.55%引き上げ 前回と同水準 政府方針 (毎日新聞)

麻生太郎副総理兼財務相=川田雅浩撮影 [PR] 政府は13日、2020年度の診療報酬の改定で、医師の技術料にあたる「本体部分」を0・55%引き上げる方針を固めた...

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Functional annotation of melanoma risk loci identifies novel susceptibility genes.

著者 Fang S , Lu J , Zhou X , Wang Y , Ross MI , Gershenwald JE , Cormier JN , Wargo J , Sui D , Amos CI , Lee JE
Carcinogenesis.2019 Oct 21 ; ():.
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Genome-wide association study (GWAS)-identified single-nucleotide polymorphisms (SNPs) are tag SNPs located in both transcribed and noncoding regulatory DNA regions, rather than representing causal or functional variants for disease. To identify functional variants or genes for melanoma susceptibility, we used FUMA to perform functional annotation of the summary statistics of 2541 significant melanoma risk SNPs (P < 5×10-8) identified by GWAS. The original GWAS melanoma study included 15,990 cases and 26,409 controls, representing the largest international meta-analysis of melanoma susceptibility. We prioritized 330 unique genes, including those in immune cytokine signaling pathways, from 19 loci through positional, expression quantitative trait locus, and chromatin interaction mapping. In comparison, only 38 melanoma-related genes were identified in the original meta-analysis. In addition to the well-known melanoma susceptibility genes confirmed in the meta-analysis (MC1R, CDKN2A, TERT, OCA2, and ARNT/SETDB1), we also identified additional novel genes using FUMA to map SNPs to genes. Through chromatin interaction mapping, we prioritized IFNA7, IFNA10, IFNA16, IFNA17, IFNA14, IFNA6, IFNA21, IFNA4, IFNE, and IFNA5; these 10 most significant genes are all involved in immune system and cytokine signaling pathways. In the gene analysis, we identified 72 genes with a P < 2.5×10-6. The genes associated with melanoma risk were DEF8 (P = 1.09×10-57), DBNDD1 (P = 2.19×10-42), SPATA33 (P = 3.54×10-38), and MC1R (P = 1.04×10-36). In summary, this study identifies novel putative melanoma susceptibility genes and provides a guide for further experimental validation of functional variants and disease-related genes.
PMID: 31630191 [PubMed - as supplied by publisher]
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