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http://hdl.handle.net/2445/175455
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DC Field | Value | Language |
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dc.contributor.author | Galvan Femenia, Ivan | - |
dc.contributor.author | Obón Santacana, Mireia | - |
dc.contributor.author | Piñeyro, David | - |
dc.contributor.author | Guindo Martínez, Marta | - |
dc.contributor.author | Duran, Xavier | - |
dc.contributor.author | Carreras, Anna | - |
dc.contributor.author | Pluvinet, Raquel | - |
dc.contributor.author | Velasco, Juan | - |
dc.contributor.author | Ramos, Laia | - |
dc.contributor.author | Aussó, Susanna | - |
dc.contributor.author | Mercader, J.M. | - |
dc.contributor.author | Puig, Lluis | - |
dc.contributor.author | Perucho, Manuel | - |
dc.contributor.author | Torrents Arenales, David | - |
dc.contributor.author | Moreno Aguado, Víctor | - |
dc.contributor.author | Sumoy, Lauro | - |
dc.contributor.author | Cid, Rafael de | - |
dc.date.accessioned | 2021-03-19T19:10:46Z | - |
dc.date.available | 2021-03-19T19:10:46Z | - |
dc.date.issued | 2018-11-01 | - |
dc.identifier.issn | 0022-2593 | - |
dc.identifier.uri | http://hdl.handle.net/2445/175455 | - |
dc.description.abstract | BACKGROUND: Heritability estimates have revealed an important contribution of SNP variants for most common traits; however, SNP analysis by single-trait genome-wide association studies (GWAS) has failed to uncover their impact. In this study, we applied a multitrait GWAS approach to discover additional factor of the missing heritability of human anthropometric variation. METHODS: We analysed 205 traits, including diseases identified at baseline in the GCAT cohort (Genomes For Life- Cohort study of the Genomes of Catalonia) (n=4988), a Mediterranean adult population-based cohort study from the south of Europe. We estimated SNP heritability contribution and single-trait GWAS for all traits from 15 million SNP variants. Then, we applied a multitrait-related approach to study genome-wide association to anthropometric measures in a two-stage meta-analysis with the UK Biobank cohort (n=336 107). RESULTS: Heritability estimates (eg, skin colour, alcohol consumption, smoking habit, body mass index, educational level or height) revealed an important contribution of SNP variants, ranging from 18% to 77%. Single-trait analysis identified 1785 SNPs with genome-wide significance threshold. From these, several previously reported single-trait hits were confirmed in our sample with LINC01432 (p=1.9×10-9) variants associated with male baldness, LDLR variants with hyperlipidaemia (ICD-9:272) (p=9.4×10-10) and variants in IRF4 (p=2.8×10-57), SLC45A2 (p=2.2×10-130), HERC2 (p=2.8×10-176), OCA2 (p=2.4×10-121) and MC1R (p=7.7×10-22) associated with hair, eye and skin colour, freckling, tanning capacity and sun burning sensitivity and the Fitzpatrick phototype score, all highly correlated cross-phenotypes. Multitrait meta-analysis of anthropometric variation validated 27 loci in a two-stage meta-analysis with a large British ancestry cohort, six of which are newly reported here (p value threshold <5×10-9) at ZRANB2-AS2, PIK3R1, EPHA7, MAD1L1, CACUL1 and MAP3K9. CONCLUSION: Considering multiple-related genetic phenotypes improve associated genome signal detection. These results indicate the potential value of data-driven multivariate phenotyping for genetic studies in large population-based cohorts to contribute to knowledge of complex traits. | - |
dc.format.extent | 14 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | BMJ Publishing Group | - |
dc.relation.isformatof | Reproducció del document publicat a: https://doi.org/10.1136/jmedgenet-2018-105437 | - |
dc.relation.ispartof | Journal of Medical Genetics, 2018, vol. 55, num. 11, p. 765-778 | - |
dc.relation.uri | https://doi.org/10.1136/jmedgenet-2018-105437 | - |
dc.rights | cc-by-nc (c) Galván Femenía, Iván et al., 2018 | - |
dc.rights.uri | http://creativecommons.org/licenses/by-nc/3.0/es | - |
dc.source | Articles publicats en revistes (Ciències Clíniques) | - |
dc.subject.classification | Fenotip | - |
dc.subject.classification | Malalties hereditàries | - |
dc.subject.classification | Factors de risc en les malalties | - |
dc.subject.other | Phenotype | - |
dc.subject.other | Genetic diseases | - |
dc.subject.other | Risk factors in diseases | - |
dc.title | Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 685294 | - |
dc.date.updated | 2021-03-19T13:27:27Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 30166351 | - |
Appears in Collections: | Articles publicats en revistes (Ciències Clíniques) Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) |
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