TY  - JOUR
AU  - Hoggart, CJ
AU  - Venturini, G
AU  - Mangino, M
AU  - Gomez, F
AU  - Ascari, G
AU  - Zhao, JH
AU  - Teumer, A
AU  - Winkler, TW
AU  - Tšernikova, N
AU  - Luan, J
AU  - Mihailov, E
AU  - Ehret, GB
AU  - Zhang, W
AU  - Lamparter, D
AU  - Esko, T
AU  - Macé, A
AU  - Rüeger, S
AU  - Bochud, P-Y
AU  - Barcella, M
AU  - Dauvilliers, Y
AU  - Benyamin, B
AU  - Evans, DM
AU  - Hayward, C
AU  - Lopez, MF
AU  - Franke, L
AU  - Russo, A
AU  - Heid, IM
AU  - Salvi, E
AU  - Vendantam, S
AU  - Arking, DE
AU  - Boerwinkle, E
AU  - Chambers, JC
AU  - Fiorito, G
AU  - Grallert, H
AU  - Guarrera, S
AU  - Homuth, G
AU  - Huffman, JE
AU  - Porteous, D
AU  - Generation Scotland Consortium
AU  - LifeLines Cohort study
AU  - GIANT Consortium
AU  - Moradpour, D
AU  - Iranzo, A
AU  - Hebebrand, J
AU  - Kemp, JP
AU  - Lammers, GJ
AU  - Aubert, V
AU  - Heim, MH
AU  - Martin, NG
AU  - Montgomery, GW
AU  - Peraita-Adrados, R
AU  - Santamaria, J
AU  - Negro, F
AU  - Schmidt, CO
AU  - Scott, RA
AU  - Spector, TD
AU  - Strauch, K
AU  - Völzke, H
AU  - Wareham, NJ
AU  - Yuan, W
AU  - Bell, JT
AU  - Chakravarti, A
AU  - Kooner, JS
AU  - Peters, A
AU  - Matullo, G
AU  - Wallaschofski, H
AU  - Whitfield, JB
AU  - Paccaud, F
AU  - Vollenweider, P
AU  - Bergmann, S
AU  - Beckmann, JS
AU  - Tafti, M
AU  - Hastie, ND
AU  - Cusi, D
AU  - Bochud, M
AU  - Frayling, TM
AU  - Metspalu, A
AU  - Jarvelin, M-R
AU  - Scherag, A
AU  - Smith, GD
AU  - Borecki, IB
AU  - Rousson, V
AU  - Hirschhorn, JN
AU  - Rivolta, C
AU  - Loos, RJF
AU  - Kutalik, Z
Y2  - 2020/12/17
Y1  - 2014/07
SN  - 1553-7390
UR  - http://hdl.handle.net/11343/254824
AB  - 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.
LA  - eng
PB  - Public Library of Science (PLoS)
T1  - Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.
DO  - 10.1371/journal.pgen.1004508
IS  - PLoS Genetics
VL  - 10
IS  - 7
SP  - e1004508-
L1  - /bitstream/handle/11343/254824/PMC4117451.pdf?sequence=1&isAllowed=y
ER  -