Search: onr:"swepub:oai:lup.lub.lu.se:af34bd01-4a4e-40b3-8677-3980c27e3715" > Genome-wide associa...
Fältnamn | Indikatorer | Metadata |
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000 | 05015naa a2200889 4500 | |
001 | oai:lup.lub.lu.se:af34bd01-4a4e-40b3-8677-3980c27e3715 | |
003 | SwePub | |
008 | 160918s2011 | |||||||||||000 ||eng| | |
024 | 7 | a https://lup.lub.lu.se/record/af34bd01-4a4e-40b3-8677-3980c27e37152 URI |
024 | 7 | a https://doi.org/10.1093/hmg/ddr4152 DOI |
040 | a (SwePub)lu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a art2 swepub-publicationtype |
072 | 7 | a ref2 swepub-contenttype |
100 | 1 | a Amos, Christopher I4 aut |
245 | 1 0 | a Genome-wide association study identifies novel loci predisposing to cutaneous melanoma |
264 | c 2011-09-17 | |
264 | 1 | b Oxford University Press (OUP),c 2011 |
300 | a 12 s. | |
520 | a We performed a multistage genome-wide association study of melanoma. In a discovery cohort of 1804 melanoma cases and 1026 controls, we identified loci at chromosomes 15q13.1 (HERC2/OCA2 region) and 16q24.3 (MC1R) regions that reached genome-wide significance within this study and also found strong evidence for genetic effects on susceptibility to melanoma from markers on chromosome 9p21.3 in the p16/ARF region and on chromosome 1q21.3 (ARNT/LASS2/ANXA9 region). The most significant single-nucleotide polymorphisms (SNPs) in the 15q13.1 locus (rs1129038 and rs12913832) lie within a genomic region that has profound effects on eye and skin color; notably, 50% of variability in eye color is associated with variation in the SNP rs12913832. Because eye and skin colors vary across European populations, we further evaluated the associations of the significant SNPs after carefully adjusting for European substructure. We also evaluated the top 10 most significant SNPs by using data from three other genome-wide scans. Additional in silico data provided replication of the findings from the most significant region on chromosome 1q21.3 rs7412746 (P = 6 × 10(-10)). Together, these data identified several candidate genes for additional studies to identify causal variants predisposing to increased risk for developing melanoma. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
653 | a Case-Control Studies | |
653 | a Chromosomes, Human, Pair 1 | |
653 | a Genetic Loci | |
653 | a Genetic Markers | |
653 | a Genetic Predisposition to Disease | |
653 | a Genome-Wide Association Study | |
653 | a Guanine Nucleotide Exchange Factors | |
653 | a Humans | |
653 | a Melanoma | |
653 | a Meta-Analysis as Topic | |
653 | a Pigmentation | |
653 | a Polymorphism, Single Nucleotide | |
653 | a Skin Neoplasms | |
700 | 1 | a Wang, Li-E4 aut |
700 | 1 | a Lee, Jeffrey E4 aut |
700 | 1 | a Gershenwald, Jeffrey E4 aut |
700 | 1 | a Chen, Wei V4 aut |
700 | 1 | a Fang, Shenying4 aut |
700 | 1 | a Kosoy, Roman4 aut |
700 | 1 | a Zhang, Mingfeng4 aut |
700 | 1 | a Qureshi, Abrar A4 aut |
700 | 1 | a Vattathil, Selina4 aut |
700 | 1 | a Schacherer, Christopher W4 aut |
700 | 1 | a Gardner, Julie M4 aut |
700 | 1 | a Wang, Yuling4 aut |
700 | 1 | a Bishop, D Tim4 aut |
700 | 1 | a Barrett, Jennifer H4 aut |
700 | 1 | a MacGregor, Stuart4 aut |
700 | 1 | a Hayward, Nicholas K4 aut |
700 | 1 | a Martin, Nicholas G4 aut |
700 | 1 | a Duffy, David L4 aut |
700 | 1 | a Mann, Graham J4 aut |
700 | 1 | a Cust, Anne4 aut |
700 | 1 | a Hopper, John4 aut |
700 | 1 | a Brown, Kevin M4 aut |
700 | 1 | a Grimm, Elizabeth A4 aut |
700 | 1 | a Xu, Yaji4 aut |
700 | 1 | a Han, Younghun4 aut |
700 | 1 | a Jing, Kaiyan4 aut |
700 | 1 | a McHugh, Caitlin4 aut |
700 | 1 | a Laurie, Cathy C4 aut |
700 | 1 | a Doheny, Kim F4 aut |
700 | 1 | a Pugh, Elizabeth W4 aut |
700 | 1 | a Seldin, Michael F4 aut |
700 | 1 | a Han, Jiali4 aut |
700 | 1 | a Wei, Qingyi4 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,Lunds Melanomstudiegrupp,Forskargrupper vid Lunds universitet,Medical oncology,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Tumor microenvironment,Department of Clinical Sciences, Lund,Lund Melanoma Study Group,Lund University Research Groups4 aut0 (Swepub:lu)onk-hol |
710 | 2 | a Medicinsk onkologib Sektion I4 org |
710 | 2 | a GenoMEL Investigators |
773 | 0 | t Human Molecular Geneticsd : Oxford University Press (OUP)g 20:24, s. 23-5012q 20:24<23-5012x 0964-6906x 1460-2083 |
856 | 4 | u http://dx.doi.org/10.1093/hmg/ddr415y FULLTEXT |
856 | 4 | u https://academic.oup.com/hmg/article-pdf/20/24/5012/17253829/ddr415.pdf |
856 | 4 8 | u https://lup.lub.lu.se/record/af34bd01-4a4e-40b3-8677-3980c27e3715 |
856 | 4 8 | u https://doi.org/10.1093/hmg/ddr415 |
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