Sökning: WFRF:(Azizi M) > Fine mapping of gen...
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000 | 05854naa a2200925 4500 | |
001 | oai:lup.lub.lu.se:e0098cef-d82f-4420-8d2f-7ab4ed444bcb | |
003 | SwePub | |
008 | 160401s2015 | |||||||||||000 ||eng| | |
009 | oai:prod.swepub.kib.ki.se:130615405 | |
024 | 7 | a https://lup.lub.lu.se/record/51859942 URI |
024 | 7 | a https://doi.org/10.1002/ijc.290992 DOI |
024 | 7 | 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 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Barrett, Jennifer H.u Karolinska Institutet4 aut |
245 | 1 0 | a Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions |
264 | c 2014-08-14 | |
264 | 1 | b 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 | 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 |
653 | a melanoma | |
653 | a fine mapping | |
653 | a penalized regression | |
653 | a heritability | |
653 | a genome-wide | |
653 | a signal | |
700 | 1 | a Taylor, John C.4 aut |
700 | 1 | a Bright, Chloe4 aut |
700 | 1 | a Harland, Mark4 aut |
700 | 1 | a Dunning, Alison M.4 aut |
700 | 1 | a Akslen, Lars A.4 aut |
700 | 1 | a Andresen, Per A.4 aut |
700 | 1 | a Avril, Marie-Francoise4 aut |
700 | 1 | a Azizi, Esther4 aut |
700 | 1 | a Scarra, Giovanna Bianchi4 aut |
700 | 1 | a Brossard, Myriam4 aut |
700 | 1 | a Brown, Kevin M.4 aut |
700 | 1 | a Debniak, Tadeusz4 aut |
700 | 1 | a Elder, David E.4 aut |
700 | 1 | a Friedman, Eitan4 aut |
700 | 1 | a Ghiorzo, Paola4 aut |
700 | 1 | a Gillanders, Elizabeth M.4 aut |
700 | 1 | a Gruis, Nelleke A.4 aut |
700 | 1 | a Hansson, Johan4 aut |
700 | 1 | a Helsing, Per4 aut |
700 | 1 | a Hocevar, Marko4 aut |
700 | 1 | a Hoiom, Veronicau Karolinska Institutet4 aut |
700 | 1 | 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 |
700 | 1 | a Landi, Maria Teresa4 aut |
700 | 1 | a Lang, Julie4 aut |
700 | 1 | a Lathrop, G. Mark4 aut |
700 | 1 | a Lubinski, Jan4 aut |
700 | 1 | a Mackie, Rona M.4 aut |
700 | 1 | a Molven, Anders4 aut |
700 | 1 | a Novakovic, Srdjan4 aut |
700 | 1 | 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 |
700 | 1 | a Puig, Susana4 aut |
700 | 1 | a Anton Puig-Butille, Joan4 aut |
700 | 1 | a van der Stoep, Nienke4 aut |
700 | 1 | a van Doorn, Remco4 aut |
700 | 1 | a van Workum, Wilbert4 aut |
700 | 1 | a Goldstein, Alisa M.4 aut |
700 | 1 | a Kanetsky, Peter A.4 aut |
700 | 1 | a Pharoah, Paul D. P.4 aut |
700 | 1 | a Demenais, Florence4 aut |
700 | 1 | a Hayward, Nicholas K.4 aut |
700 | 1 | a Newton Bishop, Julia A.4 aut |
700 | 1 | a Bishop, D. Timothy4 aut |
700 | 1 | a Iles, Mark M.4 aut |
710 | 2 | a Karolinska Institutetb Kirurgi, Lund4 org |
773 | 0 | t International Journal of Cancerd : Wileyg 136:6, s. 1351-1360q 136:6<1351-1360x 0020-7136x 1097-0215 |
856 | 4 | u http://dx.doi.org/10.1002/ijc.29099x freey FULLTEXT |
856 | 4 | u https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/ijc.29099 |
856 | 4 8 | u https://lup.lub.lu.se/record/5185994 |
856 | 4 8 | u https://doi.org/10.1002/ijc.29099 |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:130615405 |
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