Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index

CJ Hoggart; G Venturini; M Mangino; F Gomez; G Ascari; JH Zhao; A Teumer; TW Winkler; N Tšernikova; J Luan; E Mihailov; GB Ehret; W Zhang; D Lamparter; T Esko; A Macé; S Rüeger; PY Bochud; M Barcella; Y Dauvilliers; B Benyamin; DM Evans; C Hayward; MF Lopez; L Franke; A Russo; IM Heid; E Salvi; S Vendantam; DE Arking; E Boerwinkle; JC Chambers; G Fiorito; H Grallert; S Guarrera; G Homuth; JE Huffman; D Porteous; D Moradpour; A Iranzo; J Hebebrand; JP Kemp; GJ Lammers; V Aubert; MH Heim; NG Martin; GW Montgomery; R Peraita-Adrados; J Santamaria; F Negro; CO Schmidt; RA Scott; TD Spector; K Strauch; H Völzke; NJ Wareham; W Yuan; JT Bell; A Chakravarti; JS Kooner; A Peters; G Matullo; H Wallaschofski; JB Whitfield; F Paccaud; P Vollenweider; S Bergmann; JS Beckmann; M Tafti; ND Hastie; D Cusi; M Bochud; T Frayling; A Metspalu; MR Jarvelin; A Scherag; GD Smith; IB Borecki; V Rousson; JN Hirschhorn; C Rivolta; RJF Loos; Z Kutalik; P de Bakker; U Bültmann; M Geleijnse; P van der Harst; G Koppelman; JGM Rosmalen; L van Rossum; H Smidt; MA Swertz; RP Stolk; B Alizadeh; R de Boer; HM Boezen; M Bruinenberg; H Hillege; MM Van der Klauw; G Navis

Journal article

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index

CJ Hoggart, G Venturini, M Mangino, F Gomez, G Ascari, JH Zhao, A Teumer, TW Winkler, N Tšernikova, J Luan, E Mihailov, GB Ehret, W Zhang, D Lamparter, T Esko, A Macé, S Rüeger, PY Bochud, M Barcella, Y Dauvilliers Show all

Plos Genetics | Published : 2014

DOI: 10.1371/journal.pgen.1004508

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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 t..

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