Genetic basis of schizophrenia: Trinucleotide repeats an update

Meera Vaswani, Suman Kapur

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


1. Recent developments in technologies permit systematic screening of the entire human genome as a strategy for identification of susceptibility genes of small effect that influence risk to complex traits, like schizophrenia (Schz), inflammatory bowel disease, bipolar affective disorder (BPAD) etc. 2. Schizophrenia is known to have a high heritability and a complex inheritance pattern. Several studies provideevidence that both genes and environment play a role in the etiology of schizophrenia. Linkage studies have observed racial and sex bias in the genetic constitution of schizophrenia. Schizophrenia also manifests clinical anticipation and genomic imprinting. 3. "Dynamic mutations" or "tandem repeat expansions" in DNA, explain a number of observations associated with clinical anticipation and genomic imprinting. In patient populations, the repeat expands well beyond the normal range, altering the biological function of the gene. These sequence are unstable and increase in size between family members in successive generations, giving rise to greater severity of disease. 4. Several workers have reported an association of trinucleotide repeat length with adult- and child-onset schizophrenia. One such expanded allele has been found at the CTG18.1 locus on the 18th chromosome. Other genes known to have similar mutation are SEF2-1, which codes for a helix- loop-helix protein, hSKCa3 gene, which codes for a calcium- activated potassium channel and the transthyretin gene. In schizophrenic patients, significant difference in allele frequency distribution of these genes has been reported. 5. Population based genetic research would not only help identify different subgroups of this of schizophrenia.

Original languageEnglish (US)
Pages (from-to)1187-1201
Number of pages15
JournalProgress in Neuro-Psychopharmacology and Biological Psychiatry
Issue number6
StatePublished - 2001
Externally publishedYes


  • Dynamic mutations
  • Expanded repeats
  • Schizophrenia
  • Trinucleotide repeats


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