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Genetic variations linked to schizophrenia

20 October 2008
Appeared in BioNews 480

A study of almost 500 individuals with schizophrenia has revealed 12 genetic variants thought to increase risk for the disease. Writing in Nature Genetics, the researchers, based at Cardiff University, Wales, UK, revealed that one variant, on chromosome 2, held particular significance.

The researchers scanned the genomes of 479 individuals with schizophrenia using microarray-based technology, and the results were then compared to 2937 'normal' controls. Of the 12 SNPs - single 'letter' variants on a gene that were identified, the SNP in gene ZNF804A was found to have the strongest association with the disorder. This function of this gene is not fully understood but it is known to code for a protein with a zinc-finger domain - a domain that allows proteins, in collaboration with a zinc ion, to bind DNA regulating its activity.

Schizophrenia affects 0.4-0.6 per cent of the population and is characterised by paranoid delusions and disordered thoughts and speech often leading to social isolation. In popular culture, schizophrenia is often confused with multiple personality disorder although there is little symptomatic overlap.

The segregation of schizophrenia in families suggests that the disorder has a large genetic component, but initial studies focussed on a 'schizophrenia gene' and progress stalled in the face of the vastly complex nature of the disorder involving possibly hundreds of genes - a similar story can be found in many psychological disorders.

Current research favours a model for schizophrenia risk based on an array of small risk alleles which in isolation have little or no effect but in combination with other small risk alleles accumulate larger risk for the disease. Other factors thought to be contributory towards risk are early environment, neurobiology, psychological and social processes.

After years of scant success, the last 12 months has seen schizophrenia researchers harness technical advances in genomic resolution to uncover a number of genetic markers for the disorder, giving hope to scientists and schizophrenics alike that the cause of this most socially stigmatised of disorders may soon become a little clearer.

Gene sheds light on mental illness
The Boston Globe |  14 October 2008
Genetic basis for psychotic disorders
PHG Foundation |  14 October 2008
Study finds latest genetic link to schizophrenia
The Tech Herald |  12 October 2008
30 November 2009 - by Dr Rachael Panizzo 
Researchers at the University of Edinburgh, Scotland, have identified a gene that may be involved in mental illness and maintaining brain health. The scientists compared the genes of 2,000 psychiatric patients and 2,000 healthy people in Scotland. They discovered that the ABCA13 gene was faulty more frequently in patients with severe mental illness - such as schizophrenia, bipolar disorder and depression - than in the healthy control group....
1 August 2008 - by Ailsa Stevens 
Three independent studies have identified gene variants which contribute significantly to schizophrenia risk, taking steps towards understanding the cause of this highly complex condition which affects 1 in 100 people. Two of the three gene variants discovered were rare, but conferred 12 and 15 percent higher risks...
31 March 2008 - by Ailsa Stevens 
Two independent studies published in the journal Science this week suggest that many rare gene mutations may be responsible for causing schizophrenia, challenging the widely held theory that combinations of several relatively common mutations are to blame. The researchers found that very rare genetic disruptions, often unique...
10 December 2007 - by Ailsa Stevens 
US researchers at the Feinstein Institute for Medical Research last week reported the discovery of nine new genetic markers for schizophrenia. The study - published in the journal Proceedings of the National Academy of Sciences - used a novel whole genome scanning method to identify sections of genetic code...
5 November 2006 - by Dr Jess Buxton 
UK researchers have identified a genetic variation associated with an increased risk of schizophrenia in people with a strong family history of the condition. The team, based at Edinburgh University, discovered that individuals who inherit a particular version of the neuregulin (NRG1) gene have nearly three...
24 October 2005 - by BioNews 
A new study provides more evidence that a gene which affects levels of a key brain chemical is involved in schizophrenia. A team based at Stanford University in California, US, found that children with a single, 'low-activity' copy of a gene called COMT are at higher risk of developing psychotic...
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