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. Ropers; J.J. Hottenga; D.I. Boomsma

doi:10.1038/ejhg.2015.3

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

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Abstract

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 language	English
Pages (from-to)	1378-1383
Number of pages	6
Journal	European Journal of Human Genetics
Volume	23
Issue number	10
DOIs	https://doi.org/10.1038/ejhg.2015.3
Publication status	Published - 2015

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Franic, S., Blokhuis, M. M., Dolan, C. V., Kattenberg, V. M., Pool, R., Xiao, X., Scheet, P., Ehli, E. A., Davies, G. E., van der Sluis, S., Abdellaoui, A., Hansell, N. K., Martin, N. G., Hudziak, J. J., van Beijsterveldt, C. E. M., Swagerman, S. C., Hulshoff Pol, H. E., de Geus, E. J. C., Bartels, M., ... Boomsma, D. I. (2015). Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait. European Journal of Human Genetics, 23(10), 1378-1383. https://doi.org/10.1038/ejhg.2015.3

@article{9a4f714032734a8ba6f4612e6f01fd9b,

title = "Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait",

abstract = "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.",

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

year = "2015",

doi = "10.1038/ejhg.2015.3",

language = "English",

volume = "23",

pages = "1378--1383",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "10",

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Franic, S, Blokhuis, MM, Dolan, CV, Kattenberg, VM, Pool, R, Xiao, X, Scheet, P, Ehli, EA, Davies, GE, van der Sluis, S, Abdellaoui, A, Hansell, NK, Martin, NG, Hudziak, JJ, van Beijsterveldt, CEM, Swagerman, SC, Hulshoff Pol, HE, de Geus, EJC , Bartels, M, Ropers, H-H, Hottenga, JJ & Boomsma, DI 2015, 'Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait', European Journal of Human Genetics, vol. 23, no. 10, pp. 1378-1383. https://doi.org/10.1038/ejhg.2015.3

TY - JOUR

T1 - Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait

AU - Franic, S.

AU - Blokhuis, M.M.

AU - Dolan, C.V.

AU - Kattenberg, V.M.

AU - Pool, R.

AU - Xiao, X.

AU - Scheet, P.

AU - Ehli, E.A.

AU - Davies, G.E.

AU - van der Sluis, S.

AU - Abdellaoui, A.

AU - Hansell, N.K.

AU - Martin, N.G.

AU - Hudziak, J.J.

AU - van Beijsterveldt, C.E.M.

AU - Swagerman, S.C.

AU - Hulshoff Pol, H.E.

AU - de Geus, E.J.C.

AU - Bartels, M.

AU - Ropers, H.-H.

AU - Hottenga, J.J.

AU - Boomsma, D.I.

PY - 2015

Y1 - 2015

N2 - 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.

AB - 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.

U2 - 10.1038/ejhg.2015.3

DO - 10.1038/ejhg.2015.3

M3 - Article

SN - 1018-4813

VL - 23

SP - 1378

EP - 1383

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 10

ER -

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

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