Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait

S. Franic, M.M. Blokhuis, C.V. Dolan, V.M. Kattenberg, R. Pool, X. Xiao, P. Scheet, E.A. Ehli, G.E. Davies, S. van der Sluis, A. Abdellaoui, N.K. Hansell, N.G. Martin, J.J. Hudziak, C.E.M. van Beijsterveldt, S.C. Swagerman, H.E. Hulshoff Pol, E.J.C. de Geus, M. Bartels, H.-H. RopersJ.J. Hottenga, D.I. Boomsma

Research output: Contribution to JournalArticleAcademicpeer-review


Multiple inquiries into the genetic etiology of human traits indicated an overlap between genes underlying monogenic disorders (eg, skeletal growth defects) and those affecting continuous variability of related quantitative traits (eg, height). Extending the idea of a shared genetic basis between a Mendelian disorder and a classic polygenic trait, we performed an association study to examine the effect of 43 genes implicated in autosomal recessive cognitive disorders on intelligence in an unselected Dutch population (N=1316). Using both single-nucleotide polymorphism (SNP)- and gene-based association testing, we detected an association between intelligence and the genes of interest, with genes ELP2, TMEM135, PRMT10, and RGS7 showing the strongest associations. This is a demonstration of the relevance of genes implicated in monogenic disorders of intelligence to normal-range intelligence, and a corroboration of the utility of employing knowledge on monogenic disorders in identifying the genetic variability underlying complex traits.
Original languageEnglish
Pages (from-to)1378-1383
Number of pages6
JournalEuropean Journal of Human Genetics
Issue number10
Publication statusPublished - 2015

Cohort Studies

  • Netherlands Twin Register (NTR)


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