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LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00005854naa a2200925 4500
001oai:lup.lub.lu.se:e0098cef-d82f-4420-8d2f-7ab4ed444bcb
003SwePub
008160401s2015 | |||||||||||000 ||eng|
009oai:prod.swepub.kib.ki.se:130615405
0247 a https://lup.lub.lu.se/record/51859942 URI
0247 a https://doi.org/10.1002/ijc.290992 DOI
0247 a http://kipublications.ki.se/Default.aspx?queryparsed=id:1306154052 URI
040 a (SwePub)lud (SwePub)ki
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Barrett, Jennifer H.u Karolinska Institutet4 aut
2451 0a Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions
264 c 2014-08-14
264 1b Wiley,c 2015
520 a At least 17 genomic regions are established as harboring melanoma susceptibility variants, in most instances with genome-wide levels of significance and replication in independent samples. Based on genome-wide single nucleotide polymorphism (SNP) data augmented by imputation to the 1,000 Genomes reference panel, we have fine mapped these regions in over 5,000 individuals with melanoma (mainly from the GenoMEL consortium) and over 7,000 ethnically matched controls. A penalized regression approach was used to discover those SNP markers that most parsimoniously explain the observed association in each genomic region. For the majority of the regions, the signal is best explained by a single SNP, which sometimes, as in the tyrosinase region, is a known functional variant. However in five regions the explanation is more complex. At the CDKN2A locus, for example, there is strong evidence that not only multiple SNPs but also multiple genes are involved. Our results illustrate the variability in the biology underlying genome-wide susceptibility loci and make steps toward accounting for some of the missing heritability. What's new? In genome-wide association studies, researchers identify genetic variants that frequently associate with a particular disease, though the variants identified may not contribute to the molecular cause of the disease. This study took a closer look at 17 regions associated with melanoma, fine mapping the regions both in people with melanoma and in healthy controls. Though single SNPs account for the association in some regions, they found that in a few regions, several SNPs - and possibly multiple genes - contributed to the association signal. These findings illustrate the importance of not overlooking the interaction between multiple genetic markers when conducting such studies.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Cancer och onkologi0 (SwePub)302032 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Cancer and Oncology0 (SwePub)302032 hsv//eng
653 a melanoma
653 a fine mapping
653 a penalized regression
653 a heritability
653 a genome-wide
653 a signal
7001 a Taylor, John C.4 aut
7001 a Bright, Chloe4 aut
7001 a Harland, Mark4 aut
7001 a Dunning, Alison M.4 aut
7001 a Akslen, Lars A.4 aut
7001 a Andresen, Per A.4 aut
7001 a Avril, Marie-Francoise4 aut
7001 a Azizi, Esther4 aut
7001 a Scarra, Giovanna Bianchi4 aut
7001 a Brossard, Myriam4 aut
7001 a Brown, Kevin M.4 aut
7001 a Debniak, Tadeusz4 aut
7001 a Elder, David E.4 aut
7001 a Friedman, Eitan4 aut
7001 a Ghiorzo, Paola4 aut
7001 a Gillanders, Elizabeth M.4 aut
7001 a Gruis, Nelleke A.4 aut
7001 a Hansson, Johan4 aut
7001 a Helsing, Per4 aut
7001 a Hocevar, Marko4 aut
7001 a Hoiom, Veronicau Karolinska Institutet4 aut
7001 a Ingvar, Christianu Lund University,Lunds universitet,Kirurgi, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Surgery (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine4 aut0 (Swepub:lu)kir-cin
7001 a Landi, Maria Teresa4 aut
7001 a Lang, Julie4 aut
7001 a Lathrop, G. Mark4 aut
7001 a Lubinski, Jan4 aut
7001 a Mackie, Rona M.4 aut
7001 a Molven, Anders4 aut
7001 a Novakovic, Srdjan4 aut
7001 a Olsson, Håkanu Lund University,Lunds universitet,Medicinsk onkologi,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Tumörmikromiljö,Institutionen för kliniska vetenskaper, Lund,Medical oncology,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Tumor microenvironment,Department of Clinical Sciences, Lund4 aut0 (Swepub:lu)onk-hol
7001 a Puig, Susana4 aut
7001 a Anton Puig-Butille, Joan4 aut
7001 a van der Stoep, Nienke4 aut
7001 a van Doorn, Remco4 aut
7001 a van Workum, Wilbert4 aut
7001 a Goldstein, Alisa M.4 aut
7001 a Kanetsky, Peter A.4 aut
7001 a Pharoah, Paul D. P.4 aut
7001 a Demenais, Florence4 aut
7001 a Hayward, Nicholas K.4 aut
7001 a Newton Bishop, Julia A.4 aut
7001 a Bishop, D. Timothy4 aut
7001 a Iles, Mark M.4 aut
7102 a Karolinska Institutetb Kirurgi, Lund4 org
7730 t International Journal of Cancerd : Wileyg 136:6, s. 1351-1360q 136:6<1351-1360x 0020-7136x 1097-0215
8564 u http://dx.doi.org/10.1002/ijc.29099x freey FULLTEXT
8564 u https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijc.29099
8564 8u https://lup.lub.lu.se/record/5185994
8564 8u https://doi.org/10.1002/ijc.29099
8564 8u http://kipublications.ki.se/Default.aspx?queryparsed=id:130615405

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