Nature communications, 2018-11, Vol.9 (1), p.4774-10, Article 4774
- Duffy, David L
- Zhu, Gu
- Li, Xin
- Sanna, Marianna
- Iles, Mark M
- Jacobs, Leonie C
- Evans, David M
- Yazar, Seyhan
- Beesley, Jonathan
- Law, Matthew H
- Kraft, Peter
- Visconti, Alessia
- Taylor, John C
- Liu, Fan
- Wright, Margaret J
- Henders, Anjali K
- Bowdler, Lisa
- Glass, Dan
- Ikram, M Arfan
- Uitterlinden, André G
- Madden, Pamela A
- Heath, Andrew C
- Nelson, Elliot C
- Green, Adele C
- Chanock, Stephen
- Barrett, Jennifer H
- Brown, Matthew A
- Hayward, Nicholas K
- MacGregor, Stuart
- Sturm, Richard A
- Hewitt, Alex W
- Kayser, Manfred
- Hunter, David J
- Newton Bishop, Julia A
- Spector, Timothy D
- Montgomery, Grant W
- Mackey, David A
- Smith, George Davey
- Nijsten, Tamar E
- Bishop, D Timothy
- Bataille, Veronique
- Falchi, Mario
- Han, Jiali
- Martin, Nicholas G
2018
Details
- Autor(en) / Beteiligte
- Duffy, David L
- Zhu, Gu
- Li, Xin
- Sanna, Marianna
- Iles, Mark M
- Jacobs, Leonie C
- Evans, David M
- Yazar, Seyhan
- Beesley, Jonathan
- Law, Matthew H
- Kraft, Peter
- Visconti, Alessia
- Taylor, John C
- Liu, Fan
- Wright, Margaret J
- Henders, Anjali K
- Bowdler, Lisa
- Glass, Dan
- Ikram, M Arfan
- Uitterlinden, André G
- Madden, Pamela A
- Heath, Andrew C
- Nelson, Elliot C
- Green, Adele C
- Chanock, Stephen
- Barrett, Jennifer H
- Brown, Matthew A
- Hayward, Nicholas K
- MacGregor, Stuart
- Sturm, Richard A
- Hewitt, Alex W
- Kayser, Manfred
- Hunter, David J
- Newton Bishop, Julia A
- Spector, Timothy D
- Montgomery, Grant W
- Mackey, David A
- Smith, George Davey
- Nijsten, Tamar E
- Bishop, D Timothy
- Bataille, Veronique
- Falchi, Mario
- Han, Jiali
- Martin, Nicholas G
- Titel
- Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways
- Ist Teil von
- Nature communications, 2018-11, Vol.9 (1), p.4774-10, Article 4774
- Ort / Verlag
- England: Nature Publishing Group
- Erscheinungsjahr
- 2018
- Link zum Volltext
- Quelle
- Alma/SFX Local Collection
- Beschreibungen/Notizen
- The total number of acquired melanocytic nevi on the skin is strongly correlated with melanoma risk. Here we report a meta-analysis of 11 nevus GWAS from Australia, Netherlands, UK, and USA comprising 52,506 individuals. We confirm known loci including MTAP, PLA2G6, and IRF4, and detect novel SNPs in KITLG and a region of 9q32. In a bivariate analysis combining the nevus results with a recent melanoma GWAS meta-analysis (12,874 cases, 23,203 controls), SNPs near GPRC5A, CYP1B1, PPARGC1B, HDAC4, FAM208B, DOCK8, and SYNE2 reached global significance, and other loci, including MIR146A and OBFC1, reached a suggestive level. Overall, we conclude that most nevus genes affect melanoma risk (KITLG an exception), while many melanoma risk loci do not alter nevus count. For example, variants in TERC and OBFC1 affect both traits, but other telomere length maintenance genes seem to affect melanoma risk only. Our findings implicate multiple pathways in nevogenesis.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 2041-1723eISSN: 2041-1723DOI: 10.1038/s41467-018-06649-5Titel-ID: cdi_doaj_primary_oai_doaj_org_article_ffdbab560c8441628effd5dbb028717d
- Format
- –
- Schlagworte
- actin binding protein, Australia, Basic Medicine, biology, Bivariate analysis, cancer, Cancer and Oncology, Cancer och onkologi, carrier protein, Carrier Proteins, Carrier Proteins - genetics, Caucasian, Clinical Medicine, cutaneous melanoma, CYP1B1 protein, human, Cytochrome P-450 CYP1B1, Cytochrome P-450 CYP1B1 - genetics, cytochrome P450 1B1, DOCK8 protein, human, European Continental Ancestry Group, G protein coupled receptor, gene, gene expression, gene locus, Genes, Genetic Pleiotropy, Genetic Pleiotropy - genetics, genetic predisposition, Genetic Predisposition to Disease, genetic risk, genetics, Genome-Wide Association Study, GPRC5A protein, human, Group VI Phospholipases A2, Group VI Phospholipases A2 - genetics, guanine nucleotide exchange factor, Guanine Nucleotide Exchange Factors, Guanine Nucleotide Exchange Factors - genetics, HDAC4 protein, human, histone deacetylase, histone deacetylase 4, Histone Deacetylases, Histone Deacetylases - genetics, human, Humans, interferon regulatory factor, Interferon regulatory factor 4, Interferon Regulatory Factors, Interferon Regulatory Factors - genetics, KITLG protein, human, Klinisk medicin, Loci, Medical and Health Sciences, Medical Genetics, Medicin och hälsovetenskap, Medicinsk genetik, Medicinska och farmaceutiska grundvetenskaper, Melanoma, Melanoma - genetics, meta analysis, meta analysis (topic), Microfilament Proteins, Microfilament Proteins - genetics, microRNA, MicroRNAs, MicroRNAs - genetics, MIRN146 microRNA, human, nerve protein, Nerve Tissue Proteins, Nerve Tissue Proteins - genetics, Netherlands, Nevus, Nevus, Pigmented, Nevus, Pigmented - genetics, nuclear protein, Nuclear Proteins, Nuclear Proteins - genetics, peroxisome proliferator activated receptor gamma coactivator 1beta, phospholipase A2 group VI, pigmented nevus, PLA2G6 protein, human, pleiotropy, Polymorphism, Single Nucleotide, PPARGC1B protein, human, Receptors, G-Protein-Coupled, Receptors, G-Protein-Coupled - genetics, repressor protein, Repressor Proteins, Repressor Proteins - genetics, Risk, risk assessment, RNA, RNA - genetics, RNA-Binding Proteins, Single-nucleotide polymorphism, Skin, Skin Neoplasms, Skin Neoplasms - genetics, skin tumor, stem cell factor, Stem Cell Factor - genetics, Stn1 protein, human, SYNE2 protein, human, telomerase, Telomerase - genetics, telomerase RNA, telomere binding protein, telomere homeostasis, Telomere-Binding Proteins, Telomere-Binding Proteins - genetics, United Kingdom, United States, White People - genetics