Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2016 Mar 30;11(3):e0150464.
doi: 10.1371/journal.pone.0150464. eCollection 2016.

Genetic Evaluation of Schizophrenia Using the Illumina HumanExome Chip

Tim Moons  1 , Marc De Hert  2 , Edith Gellens  1 , Leen Gielen  2 , Kim Sweers  2 , Sigrun Jacqmaert  3 , Ruud van Winkel  4 , Philippe Vandekerckhove  5   4 , Stephan Claes  1
Affiliations

Genetic Evaluation of Schizophrenia Using the Illumina HumanExome Chip

Tim Moons et al. PLoS One. .

Abstract

Introduction: Schizophrenia is a genetically heterogeneous disorder that is associated with several common and rare genetic variants. As technology involved, cost advantages of chip based genotyping was combined with information about rare variants, resulting in the Infinium HumanExome Beadchip. Using this chip, a sample of 493 patients with schizophrenia or schizoaffective disorder and 484 healthy controls was genotyped.

Results: From the initial 242901 SNVs, 88306 had at least one minor allele and passed quality control. No variant reached genomewide-significant results (p<10(-8)). The SNP with the lowest p-value was rs1230345 in WISP3 (p = 3.05*10(-6)), followed by rs9311525 in CACNA2D3 (p = 1.03*10(-5)) and rs1558557 (p = 3.85*10(-05)) on chromosome 7. At the gene level, 3 genes were of interest: WISP3, on chromosome 6q21, a signally protein from the extracellular matrix. A second candidate gene is CACNA2D3, a regulator of the intracerebral calcium pathway. A third gene is TNFSF10, associated with p53 mediated apoptosis.

PubMed Disclaimer

Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Fig 1
Fig 1. Manhattan plot of the autosomal chromosomes after logistic regression corrected for differences in ethnicity.
Names of the top 9 SNPs were included in the plot.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

References

    1. Perala J, Suvisaari J, Saarni SI, Kuoppasalmi K, Isometsa E, Pirkola S et al. Lifetime prevalence of psychotic and bipolar I disorders in a general population. Arch Gen Psychiatry. 2007; 64: 19–28. 64/1/19 [pii]; 10.1001/archpsyc.64.1.19 - DOI - PubMed
    1. Tandon R, Keshavan MS, Nasrallah HA. Schizophrenia, "just the facts" what we know in 2008. 2. Epidemiology and etiology. Schizophr Res. 2008; 102: 1–18. S0920-9964(08)00168-0 [pii]; 10.1016/j.schres.2008.04.011 - DOI - PubMed
    1. Sullivan PF, Kendler KS, Neale MC. Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies. Arch Gen Psychiatry. 2003; 60: 1187–1192. 10.1001/archpsyc.60.12.1187 60/12/1187 [pii]. - DOI - PubMed
    1. Lichtenstein P, Yip BH, Bjork C, Pawitan Y, Cannon TD, Sullivan PF et al. Common genetic determinants of schizophrenia and bipolar disorder in Swedish families: a population-based study. Lancet. 2009; 373: 234–239. S0140-6736(09)60072-6 [pii]; 10.1016/S0140-6736(09)60072-6 - DOI - PMC - PubMed
    1. Mowry BJ, Gratten J. The emerging spectrum of allelic variation in schizophrenia: current evidence and strategies for the identification and functional characterization of common and rare variants. Mol Psychiatry. 2013; 18: 38–52. mp201234 [pii]; 10.1038/mp.2012.34 - DOI - PubMed