Variation in the protocadherin γ A gene cluster

George Kirov, Lyudmila Georgieva, Nigel Williams, Ivan Nikolov, Nadine Norton, Draga Toncheva, Michael O'Donovan, Michael J. Owen

Research output: Contribution to journalArticlepeer-review

13 Scopus citations


We screened for variation in the 12 protocadherin γ A (PCDHGA) genes of the protocadherin cluster on chromosome 5q31. We used denaturing high-performance liquid chromatography followed by sequencing to identify changes in the DNA sequence. We identified 24 nonsynonymous changes, 24 synonymous SNPs, and 9 polymorphisms in the 5′ flanking regions. The variant with the greatest predicted impact on the encoded protein was a frameshift polymorphism in PCDHGA8, caused by a deletion of one C base (Pro174fsdelC). The del variant was more common in 512 controls compared to 506 schizophrenic (SZ) cases (10.6% vs 7.2%, p = 0.007) but this trend was not replicated in an independent sample of 403 trios, in which it was transmitted 47 times and not transmitted 55 times from heterozygous parents (p = 0.43). We screened 10 of the common polymorphisms for association with schizophrenia by genotyping pooled DNA from 540 SZ cases and 540 controls, but none of them showed a significant difference. It will be important to identify the phenotype associated with the loss of the PCDHGA8 gene.

Original languageEnglish (US)
Pages (from-to)433-440
Number of pages8
Issue number4
StatePublished - Oct 1 2003


  • Association
  • Gene
  • Liquid chromatography
  • Mutation
  • Polymorphism
  • Protocadherin γ
  • Schizophrenia

ASJC Scopus subject areas

  • Genetics


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