Population Genetics Technologies Ltd and the University of Cambridge’s Autism Research Centre (ARC) have begun a joint study to identify sequence variants in two genes, both of which have been previously associated with Asperger Syndrome.

Under the agreement Population Genetics will undertake the genetic analysis and retain rights to commercialise any biomarkers discovered. Results of the study are expected during 2012.

The study is based on 1000 samples, half of which are from people with high functioning autism or Asperger Syndrome, and half are from controls. In this study, Population Genetics will be applying its proprietary Reflex technology that allows variant discovery along a discrete contiguous target in large populations.

The study uses buccal (mouth swab) samples, which are less invasive to collect than blood samples: having a technology such as Reflex which can make use of buccal samples is important for the large population studies in which Population Genetics specialises.

Professor Simon Baron-Cohen, director of the Autism Research Centre (ARC) at Cambridge, said: “Most genetic studies have focused on classic autism but the genetics of high-functioning autism may yield valuable insights because these are individuals who do not have associated learning disability or language delays. Working with Population Genetics gives us an exciting way to test our previous findings that variations within these two genes are associated with high functioning autism or Asperger Syndrome.”

Dr Bhismadev Chakrabarti, Director of Genetics at the ARC, said: “These genes are prime candidates for helping us understand abnormalities in sex-steroid hormones and neural connectivity respectively”.

This study is one of a number being conducted by the ARC to examine if single nucleotide polymorphisms (SNPs) in these candidate genes differ in their frequency between cases and controls; or if these SNPs are associated with phenotypic measures that the ARC has developed, such as the Autism Spectrum Quotient. Another of the ARC’s goals is to test if the same or different associations are found in Asperger Syndrome and classic autism.

Alan Schafer, CEO of Population Genetics, said: “We are pleased to be working with Professor Baron-Cohen on a syndrome of such genetic and symptomatic complexity. Unravelling the underlying genetic contributions could provide a path towards a better understanding of causation and potentially to markers to guide further investigation.”