Genome-wide association study identifies three loci associated with melanoma risk

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Fältnamn	Indikatorer	Metadata
000		05173naa a2200961 4500
001		oai:lup.lub.lu.se:4e219de2-0ff4-4388-a544-797f079b4eae
003		SwePub
008		160401s2009 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
009		oai:prod.swepub.kib.ki.se:119133947
024	7	a https://lup.lub.lu.se/record/14604402 URI
024	7	a https://doi.org/10.1038/ng.4112 DOI
024	7	a http://kipublications.ki.se/Default.aspx?queryparsed=id:1191339472 URI
040		a (SwePub)lud (SwePub)ki
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Bishop, D. Timothy4 aut
245	1 0	a Genome-wide association study identifies three loci associated with melanoma risk
264		c 2009-07-05
264	1	b Springer Science and Business Media LLC,c 2009
520		a We report a genome-wide association study of melanoma conducted by the GenoMEL consortium based on 317K tagging SNPs for 1,650 selected cases and 4,336 controls, with replication in an additional two cohorts (1,149 selected cases and 964 controls from GenoMEL, and a population-based case-control study in Leeds of 1,163 cases and 903 controls). The genome-wide screen identified five loci with genotyped or imputed SNPs reaching P < 5 x 10(-7). Three of these loci were replicated: 16q24 encompassing MC1R (combined P = 2.54 x 10(-27) for rs258322), 11q14-q21 encompassing TYR (P = 2.41 x 10(-14) for rs1393350) and 9p21 adjacent to MTAP and flanking CDKN2A (P = 4.03 x 10(-7) for rs7023329). MC1R and TYR are associated with pigmentation, freckling and cutaneous sun sensitivity, well-recognized melanoma risk factors. Common variants within the 9p21 locus have not previously been associated with melanoma. Despite wide variation in allele frequency, these genetic variants show notable homogeneity of effect across populations of European ancestry living at different latitudes and show independent association to disease risk.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
700	1	a Demenais, Florence4 aut
700	1	a Iles, Mark M.4 aut
700	1	a Harland, Mark4 aut
700	1	a Taylor, John C.4 aut
700	1	a Corda, Eve4 aut
700	1	a Randerson-Moor, Juliette4 aut
700	1	a Aitken, Joanne F.4 aut
700	1	a Avril, Marie-Francoise4 aut
700	1	a Azizi, Esther4 aut
700	1	a Bakker, Bert4 aut
700	1	a Bianchi-Scarra, Giovanna4 aut
700	1	a Bressac-de Paillerets, Brigitte4 aut
700	1	a Calista, Donato4 aut
700	1	a Cannon-Albright, Lisa A.4 aut
700	1	a Chin-A-Woeng, Thomas4 aut
700	1	a Debniak, Tadeusz4 aut
700	1	a Galore-Haskel, Gilli4 aut
700	1	a Ghiorzo, Paola4 aut
700	1	a Gut, Ivo4 aut
700	1	a Hansson, Johanu Karolinska Institutet4 aut
700	1	a Hocevar, Marko4 aut
700	1	a Hoiom, Veronicau Karolinska Institutet4 aut
700	1	a Hopper, John L.4 aut
700	1	a Ingvar, Christianu Lund University,Lunds universitet,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Section V,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)kir-cin
700	1	a Kanetsky, Peter A.4 aut
700	1	a Kefford, Richard F.4 aut
700	1	a Landi, Maria Teresa4 aut
700	1	a Lang, Julie4 aut
700	1	a Lubinski, Jan4 aut
700	1	a Mackie, Rona4 aut
700	1	a Malvehy, Josep4 aut
700	1	a Mann, Graham J.4 aut
700	1	a Martin, Nicholas G.4 aut
700	1	a Montgomery, Grant W.4 aut
700	1	a van Nieuwpoort, Frans A.4 aut
700	1	a Novakovic, Srdjan4 aut
700	1	a Olsson, Håkanu Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)onk-hol
700	1	a Puig, Susana4 aut
700	1	a Weiss, Marjan4 aut
700	1	a van Workum, Wilbert4 aut
700	1	a Zelenika, Diana4 aut
700	1	a Brown, Kevin M.4 aut
700	1	a Goldstein, Alisa M.4 aut
700	1	a Gillanders, Elizabeth M.4 aut
700	1	a Boland, Anne4 aut
700	1	a Galan, Pilar4 aut
700	1	a Elder, David E.4 aut
700	1	a Gruis, Nelleke A.4 aut
700	1	a Hayward, Nicholas K.4 aut
700	1	a Lathrop, G. Mark4 aut
700	1	a Barrett, Jennifer H.4 aut
700	1	a Bishop, Julia A. Newton4 aut
710	2	a Karolinska Institutetb Sektion V4 org
773	0	t Nature Geneticsd : Springer Science and Business Media LLCg 41:8, s. 920-925q 41:8<920-925x 1546-1718x 1061-4036
856	4	u http://dx.doi.org/10.1038/ng.411y FULLTEXT
856	4	u https://europepmc.org/articles/pmc2741419?pdf=render
856	4 8	u https://lup.lub.lu.se/record/1460440
856	4 8	u https://doi.org/10.1038/ng.411
856	4 8	u http://kipublications.ki.se/Default.aspx?queryparsed=id:119133947

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Av författaren/redakt...: Bishop, D. Timot ...; Demenais, Floren ...; Iles, Mark M.; Harland, Mark; Taylor, John C.; Corda, Eve; visa fler...; Randerson-Moor, ...; Aitken, Joanne F ...; Avril, Marie-Fra ...; Azizi, Esther; Bakker, Bert; Bianchi-Scarra, ...; Bressac-de Paill ...; Calista, Donato; Cannon-Albright, ...; Chin-A-Woeng, Th ...; Debniak, Tadeusz; Galore-Haskel, G ...; Ghiorzo, Paola; Gut, Ivo; Hansson, Johan; Hocevar, Marko; Hoiom, Veronica; Hopper, John L.; Ingvar, Christia ...; Kanetsky, Peter ...; Kefford, Richard ...; Landi, Maria Ter ...; Lang, Julie; Lubinski, Jan; Mackie, Rona; Malvehy, Josep; Mann, Graham J.; Martin, Nicholas ...; Montgomery, Gran ...; van Nieuwpoort, ...; Novakovic, Srdja ...; Olsson, Håkan; Puig, Susana; Weiss, Marjan; van Workum, Wilb ...; Zelenika, Diana; Brown, Kevin M.; Goldstein, Alisa ...; Gillanders, Eliz ...; Boland, Anne; Galan, Pilar; Elder, David E.; Gruis, Nelleke A ...; Hayward, Nichola ...; Lathrop, G. Mark; Barrett, Jennife ...; Bishop, Julia A. ...; visa färre...

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MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Klinisk medicin; och Cancer och onkol ...

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