Genetic variation in FOXP2 alters grey matter concentrations in schizophrenia patients

Španiel, Filip; Horáček, Jiří; Tintěra, Jaroslav; Ibrahim, Ibrahim; Novák, Tomáš; Čermák, Jan; Klírová, Monika; Höschl, Cyril

doi:10.1016/j.neulet.2011.02.024

Cited by 33 publications

(17 citation statements)

References 26 publications

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“…A VBM study of neuroanatomy in 40 schizophrenia patients targeted rs2396753, a SNP that had been previously associated with auditory hallucinations (Sanjuán et al, 2006), and reported that the C allele was correlated with reductions in gray matter volume in the dorsolateral prefrontal cortex (dlPFC) (Španiel et al, 2011). Another study in 293 schizophrenia patients suggested that a different SNP, rs2253478, was associated with poverty of speech in schizophrenia, but the relevance of this polymorphism for neuroanatomy was not investigated (Tolosa et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

Assessing the effects of common variation in the FOXP2 gene on human brain structure

Hoogman

Guadalupe

Zwiers

et al. 2014

Front. Hum. Neurosci.

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The FOXP2 transcription factor is one of the most well-known genes to have been implicated in developmental speech and language disorders. Rare mutations disrupting the function of this gene have been described in different families and cases. In a large three-generation family carrying a missense mutation, neuroimaging studies revealed significant effects on brain structure and function, most notably in the inferior frontal gyrus, caudate nucleus, and cerebellum. After the identification of rare disruptive FOXP2 variants impacting on brain structure, several reports proposed that common variants at this locus may also have detectable effects on the brain, extending beyond disorder into normal phenotypic variation. These neuroimaging genetics studies used groups of between 14 and 96 participants. The current study assessed effects of common FOXP2 variants on neuroanatomy using voxel-based morphometry (VBM) and volumetric techniques in a sample of >1300 people from the general population. In a first targeted stage we analyzed single nucleotide polymorphisms (SNPs) claimed to have effects in prior smaller studies (rs2253478, rs12533005, rs2396753, rs6980093, rs7784315, rs17137124, rs10230558, rs7782412, rs1456031), beginning with regions proposed in the relevant papers, then assessing impact across the entire brain. In the second gene-wide stage, we tested all common FOXP2 variation, focusing on volumetry of those regions most strongly implicated from analyses of rare disruptive mutations. Despite using a sample that is more than 10 times that used for prior studies of common FOXP2 variation, we found no evidence for effects of SNPs on variability in neuroanatomy in the general population. Thus, the impact of this gene on brain structure may be largely limited to extreme cases of rare disruptive alleles. Alternatively, effects of common variants at this gene exist but are too subtle to be detected with standard volumetric techniques.

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Section: Introductionmentioning

confidence: 99%

Assessing the effects of common variation in the FOXP2 gene on human brain structure

Hoogman

Guadalupe

Zwiers

et al. 2014

Front. Hum. Neurosci.

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“…Subsequent studies identifi ed additional functional mutations which cause similar defi cits in other cases, providing further compelling FOXP2 and three psychiatric disorders 147 sound disorder in Chinese subjects (150 patients with speech sound disorder diagnosed according to DSM-IV and 140 controls) (Zhao et al 2010). Recently, a study showed that the common SNP rs2396753 had signifi cant effects on grey matter concentration in patients with schizophrenia (Spaniel et al 2011). However, some other studies did not fi nd signifi cant association between FoxP2 and mental disorders (Newbury et al 2002;Marui et al 2005).…”

Section: Introductionmentioning

confidence: 99%

FoxP2is significantly associated with schizophrenia and major depression in the Chinese Han Population

Li¹,

Zeng²,

Zhao³

et al. 2012

The World Journal of Biological Psychiatry

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“…The Fox family has diverse functions throughout the body, and certain isoforms have been previously associated with mental illness. A study by Spaniel and colleagues 48 investigated the potential link between FOXP2 -a Fox family gene previously associated with the development of speech and language -and schizophrenia, hypothesizing a connection between Fox-P2 and schizophrenia owing to the underlying deficits in language processing inherent to the disease. 48 These investigators identified reductions in grey matter concentrations in patients with schizophrenia carrying the C risk allele of rs2396753 (FOXP2); however, the clinical presentation of the disease, as measured by the Positive And Negative Syndrome Scale (PANSS), did not differ between genotype groups.…”

Section: J Psychiatry Neurosci 2017;42(3)mentioning

confidence: 99%

Bipolar disorder risk gene FOXO6 modulates negative symptoms in schizophrenia: a neuroimaging genetics study

Shenker

Sengupta

Joober

et al. 2017

JPN

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Genetic variation in FOXP2 alters grey matter concentrations in schizophrenia patients

Cited by 33 publications

References 26 publications

Assessing the effects of common variation in the FOXP2 gene on human brain structure

Assessing the effects of common variation in the FOXP2 gene on human brain structure

FoxP2is significantly associated with schizophrenia and major depression in the Chinese Han Population

Bipolar disorder risk gene FOXO6 modulates negative symptoms in schizophrenia: a neuroimaging genetics study

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