Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.
dc.contributor.author | Hoggart, CJ | |
dc.contributor.author | Venturini, G | |
dc.contributor.author | Mangino, M | |
dc.contributor.author | Gomez, F | |
dc.contributor.author | Ascari, G | |
dc.contributor.author | Zhao, JH | |
dc.contributor.author | Teumer, A | |
dc.contributor.author | Winkler, TW | |
dc.contributor.author | Tšernikova, N | |
dc.contributor.author | Luan, J | |
dc.contributor.author | Mihailov, E | |
dc.contributor.author | Ehret, GB | |
dc.contributor.author | Zhang, W | |
dc.contributor.author | Lamparter, D | |
dc.contributor.author | Esko, T | |
dc.contributor.author | Macé, A | |
dc.contributor.author | Rüeger, S | |
dc.contributor.author | Bochud, P-Y | |
dc.contributor.author | Barcella, M | |
dc.contributor.author | Dauvilliers, Y | |
dc.contributor.author | Benyamin, B | |
dc.contributor.author | Evans, DM | |
dc.contributor.author | Hayward, C | |
dc.contributor.author | Lopez, MF | |
dc.contributor.author | Franke, L | |
dc.contributor.author | Russo, A | |
dc.contributor.author | Heid, IM | |
dc.contributor.author | Salvi, E | |
dc.contributor.author | Vendantam, S | |
dc.contributor.author | Arking, DE | |
dc.contributor.author | Boerwinkle, E | |
dc.contributor.author | Chambers, JC | |
dc.contributor.author | Fiorito, G | |
dc.contributor.author | Grallert, H | |
dc.contributor.author | Guarrera, S | |
dc.contributor.author | Homuth, G | |
dc.contributor.author | Huffman, JE | |
dc.contributor.author | Porteous, D | |
dc.contributor.author | Generation Scotland Consortium | |
dc.contributor.author | LifeLines Cohort study | |
dc.contributor.author | GIANT Consortium | |
dc.contributor.author | Moradpour, D | |
dc.contributor.author | Iranzo, A | |
dc.contributor.author | Hebebrand, J | |
dc.contributor.author | Kemp, JP | |
dc.contributor.author | Lammers, GJ | |
dc.contributor.author | Aubert, V | |
dc.contributor.author | Heim, MH | |
dc.contributor.author | Martin, NG | |
dc.contributor.author | Montgomery, GW | |
dc.contributor.author | Peraita-Adrados, R | |
dc.contributor.author | Santamaria, J | |
dc.contributor.author | Negro, F | |
dc.contributor.author | Schmidt, CO | |
dc.contributor.author | Scott, RA | |
dc.contributor.author | Spector, TD | |
dc.contributor.author | Strauch, K | |
dc.contributor.author | Völzke, H | |
dc.contributor.author | Wareham, NJ | |
dc.contributor.author | Yuan, W | |
dc.contributor.author | Bell, JT | |
dc.contributor.author | Chakravarti, A | |
dc.contributor.author | Kooner, JS | |
dc.contributor.author | Peters, A | |
dc.contributor.author | Matullo, G | |
dc.contributor.author | Wallaschofski, H | |
dc.contributor.author | Whitfield, JB | |
dc.contributor.author | Paccaud, F | |
dc.contributor.author | Vollenweider, P | |
dc.contributor.author | Bergmann, S | |
dc.contributor.author | Beckmann, JS | |
dc.contributor.author | Tafti, M | |
dc.contributor.author | Hastie, ND | |
dc.contributor.author | Cusi, D | |
dc.contributor.author | Bochud, M | |
dc.contributor.author | Frayling, TM | |
dc.contributor.author | Metspalu, A | |
dc.contributor.author | Jarvelin, M-R | |
dc.contributor.author | Scherag, A | |
dc.contributor.author | Smith, GD | |
dc.contributor.author | Borecki, IB | |
dc.contributor.author | Rousson, V | |
dc.contributor.author | Hirschhorn, JN | |
dc.contributor.author | Rivolta, C | |
dc.contributor.author | Loos, RJF | |
dc.contributor.author | Kutalik, Z | |
dc.date.accessioned | 2020-12-17T03:17:42Z | |
dc.date.available | 2020-12-17T03:17:42Z | |
dc.date.issued | 2014-07 | |
dc.identifier | pii: PGENETICS-D-14-00323 | |
dc.identifier.citation | Hoggart, C. J., Venturini, G., Mangino, M., Gomez, F., Ascari, G., Zhao, J. H., Teumer, A., Winkler, T. W., Tšernikova, N., Luan, J., Mihailov, E., Ehret, G. B., Zhang, W., Lamparter, D., Esko, T., Macé, A., Rüeger, S., Bochud, P. -Y., Barcella, M. ,... Kutalik, Z. (2014). Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.. PLoS Genet, 10 (7), pp.e1004508-. https://doi.org/10.1371/journal.pgen.1004508. | |
dc.identifier.issn | 1553-7390 | |
dc.identifier.uri | http://hdl.handle.net/11343/254824 | |
dc.description.abstract | The phenotypic effect of some single nucleotide polymorphisms (SNPs) depends on their parental origin. We present a novel approach to detect parent-of-origin effects (POEs) in genome-wide genotype data of unrelated individuals. The method exploits increased phenotypic variance in the heterozygous genotype group relative to the homozygous groups. We applied the method to >56,000 unrelated individuals to search for POEs influencing body mass index (BMI). Six lead SNPs were carried forward for replication in five family-based studies (of ∼4,000 trios). Two SNPs replicated: the paternal rs2471083-C allele (located near the imprinted KCNK9 gene) and the paternal rs3091869-T allele (located near the SLC2A10 gene) increased BMI equally (beta = 0.11 (SD), P<0.0027) compared to the respective maternal alleles. Real-time PCR experiments of lymphoblastoid cell lines from the CEPH families showed that expression of both genes was dependent on parental origin of the SNPs alleles (P<0.01). Our scheme opens new opportunities to exploit GWAS data of unrelated individuals to identify POEs and demonstrates that they play an important role in adult obesity. | |
dc.language | eng | |
dc.publisher | Public Library of Science (PLoS) | |
dc.title | Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index. | |
dc.type | Journal Article | |
dc.identifier.doi | 10.1371/journal.pgen.1004508 | |
melbourne.affiliation.department | Computing and Information Systems | |
melbourne.source.title | PLoS Genetics | |
melbourne.source.volume | 10 | |
melbourne.source.issue | 7 | |
melbourne.source.pages | e1004508- | |
dc.rights.license | CC BY | |
melbourne.elementsid | 1224151 | |
melbourne.openaccess.pmc | http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4117451 | |
melbourne.contributor.author | Sinnott, Richard | |
dc.identifier.eissn | 1553-7404 | |
melbourne.accessrights | Open Access |