<HashMap><database>EGA</database><scores/><additional><omics_type>Genomics</omics_type><dataset_type>Illumina HumanOmni5</dataset_type><full_dataset_link>https://ega-archive.org/datasets/EGAD00010001463</full_dataset_link><sample_count>279</sample_count><description>EGA dataset EGAD00010001463</description><repository>EGA</repository><title>UM_GWAS</title><pubmed_abstract>Uveal melanoma, a rare malignant tumor of the eye, is predominantly observed in populations of European ancestry. A genome-wide association study of 259 uveal melanoma patients compared to 401 controls all of European ancestry revealed a candidate locus at chromosome 5p15.33 (region rs421284: OR = 1.7, CI 1.43-2.05). This locus was replicated in an independent set of 276 cases and 184 controls. In addition, risk variants from this region were positively associated with higher expression of &lt;i>CLPTM1L&lt;/i>. In conclusion, the &lt;i>CLPTM1L&lt;/i> region contains risk alleles for uveal melanoma susceptibility, suggesting that &lt;i>CLPTM1L&lt;/i> could play a role in uveal melanoma oncogenesis.</pubmed_abstract><pubmed_title>A GWAS in uveal melanoma identifies risk polymorphisms in the &amp;lt;i&amp;gt;CLPTM1L&amp;lt;/i&amp;gt; locus.</pubmed_title><pubmed_authors>Mobuchon Lenha L, Battistella Aude A, Bardel Claire C, Scelo Ghislaine G, Renoud Alexia A, Houy Alexandre A, Cassoux Nathalie N, Milder Maud M, Cancel-Tassin Géraldine G, Cussenot Olivier O, Delattre Olivier O, Besse Céline C, Boland Anne A, Deleuze Jean-François JF, Cox David G DG, Stern Marc-Henri MH</pubmed_authors><pubmed_title_synonyms>Choroidal, Ciliochoroidal Melanoma, Intraocular, Ocular, Risk, CRR9, Uveal, Melanoma Of The Uvea, Risks, Choroidal Melanomas, Iris, Ciliary, Ciliochoroidal, RGD1307896, C130052I12Rik., Ciliary Body Melanomas, Relative, Intraocular Melanoma, Melanomas, Melanoma, Ciliary Body Melanoma, Body Melanoma, Relative Risks, iris melanoma, Ciliary Body, Crr9, Ocular Melanoma, Iris Melanoma, Intraocular melanoma, Choroidal Melanoma, Relative Risk</pubmed_title_synonyms><name_synonyms>whole genome association study, Whole Genome Association Study., Genome-Wide Association Study, GWA Study, GWAS, genome-wide association study, Genome-Wide Association Analysis, WGA study, WGAS</name_synonyms><pubmed_abstract_synonyms>Genome-Wide Association, IPP2A2, Allelomorphs, visual_system, Plays, Tumorigeneses, compound eye, regio orbitalis, Uveal, region or site annotation, Genome Wide Association Analysis, Whole Genome Association Study, Iris, adult compound eye, PHAPII, 5730420M11Rik, Relative, School-Age, Tumorigenesis., GWA Studies, Caucasian, camera-type eye plus associated structures, Roles, Ciliary Body Melanoma, eye, Studies, Concepts, globe, Iris Melanoma, Choroidal Melanoma, Toy, Choroidal, light-detecting organ, School-Age Populations, Orbital region, GWA Study, SET, positional, Occidental, Playthings, TAF-I, eyes, visual system, GWA, ipp2a2, 2pp2a, Oncogeneses, chromatid, Population, Ciliochoroidal, RGD1307896, CG10574, Genome Wide Association Scan, Genome-Wide Association Studies, DmelCG4299, Allelomorph, Study, IGAAD, set, geographical area, 2PP2A, Puppets, Komplexauge, DmelCG10574, malignant neoplasm, taf-ibeta, Clients, Role Concepts, dSET, dSet, Play, Allele, Ciliary Body, School Age Population, Puppet, phapii, eye globe, Ciliochoroidal Melanoma, Ocular, igaad, StF-IT-1, Ciliary, bulbus oculi, white, vertebrate eye, Genome-Wide, Client, visual apparatus, group, Ciliary Body Melanomas, Concept, Eyes, Melanomas, prophase chromosome, Melanoma, MT, Role Concept, Facettenauge, Genome Wide Association Study, I-2PP2A, Playthings and Play, C130052I12Rik, School Age, European, Body Melanoma, Dm I-2, Relative Risks, I2PP2A, Role, sequence, Plaything, iris melanoma, Whole Genome Association Analysis, oncogenesis, zusammengesetztes Auge, Caucasoid, eyeball, Relative Risk, Caucasians, Populations, Intraocular, primary cancer, positional polypeptide feature, HLA-DR-associated protein II, Risk, CRR9, ensemble, DI-2, Melanoma Of The Uvea, interphase chromosome, I-2Dm, Orbital part of face, Risks, Choroidal Melanomas, Carcinogeneses, Toys, CG4299, malignant tumor, School Age Populations, primary structure of sequence macromolecule, Genome Wide Association Studies, I-2PP1, dSET/TAF-Ibeta, Intraocular Melanoma, 2610030F17Rik, TAF-IBETA, Patient, Chromosome, Oncogenesis, orbital region, orbital part of face, Whites, Association Studies, White, TAF-Ibeta, School-Age Population, Association Study, Crr9, Ocular Melanoma, Intraocular melanoma, AA407739, i2pp2a</pubmed_abstract_synonyms><description_synonyms>Genogroups, Genotypes., Genogroup</description_synonyms></additional><is_claimable>false</is_claimable><name>UM_GWAS</name><description>Genotype cases using Illumina HumanOmni5</description><dates><updated>2018-01-12 06:50:52</updated></dates><accession>EGAD00010001463</accession><cross_references><TAXONOMY>9606</TAXONOMY><pubmed>28781888</pubmed><EGA>EGAC00001000670</EGA><EGA>EGAS00001002334</EGA></cross_references></HashMap>