Increasing GWAS sample size using Item Response Theory

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Increasing GWAS sample size using Item Response Theory

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Measures: Neuroticism assessed with NEO and EPQ/ABV ... Neuroticism scales from the NEO and EPQ to a large extent measure the same ... NEO-PI-3/IPIP. UK.

Increasing GWAS sample size using Item Response Theory: A pilot study of the Personality Consortium Marleen de Moor, Stéphanie van den Berg, Jasper Wouda, Karin Verweij, Narelle Hansell, Nicholas Martin, Dorret Boomsma Background

Proposed methods

• Twin and adoption studies show that personality traits are heritable. • Genome‐wide association (GWA) studies have suggested some loci, but effect sizes are very small and replication has proven difficult.

• Item Response Theory analysis of Neuroticism, Extraversion, and possibly a 3rd higher order personality factor • GWA analysis of latent constructs (θ’s) in each sample • Meta‐analysis of all GWA results

Aim Combine data from multiple (GWA) samples using multiple personality instruments, to increase chances to find the genetic variants associated with personality

Participating samples Total sample size with personality data: ~131,000 Expected sample size with personality and GWA data: ~66,000 Country

Sample

Sample size

Scale

NL

NTR NESDA ERF* Nijmegen QIMR BLSA SAGE* Cogend Minnesota Karolinska Finnish Twins Young Finns EGPUT LBC1921‐1936 ORCADES Munich Cilento VIS/KORCULA

30,598 2,981 3,000 1,832 27,065 1,917 2,223/649 2,712 2,232/4,511/4,884 36,535 2,644 2,058 1,731 478+105 602 476 800 918+810

NEO‐FFI/ABV NEO‐FFI NEO‐FFI EPQ‐R NEO‐PI‐R/(J)EPQ/TPQ NEO‐PI‐R NEO‐PI‐R NEO‐FFI MPQ EPQ‐N/E NEO‐FFI/EPQ NEO‐FFI NEO‐PI‐3/IPIP NEO‐FFI/IPIP EPQ‐R NEO‐PI‐/TCI/MMPI2 NEO‐PI‐R EPQ‐R

AUS USA

SE FI EE UK DE IT CR

Pilot study Samples: NTR and QIMR Measures: Neuroticism assessed with NEO and EPQ/ABV Statistical analyses: Measurement invariance analysis and Item Response Theory Results: • Neuroticism assessed with NEO and with EPQ is unidimensional • Neuroticism scales from the NEO and EPQ to a large extent measure the same construct. • Neuroticism scale of the NEO is measurement invariant across countries.

Conclusions and future plans Based on the results of the pilot study, mapping scales from different personality questionnaires to the same construct seems feasible. Increased sample size and increased precision in measurement of the phenotype are expected to lead to find variants associated with personality.

* Data are expected

This research is funded by:

VU University, Department of Biological Psychology, [email protected]