Key result
There was no significant excess of longer KCNN3 alleles in patients with bipolar disorder or schizophrenia compared to controls, though schizophrenia patients had significantly more allele size differences ≥5.
Case-Control
While no excess of longer KCNN3 alleles was found in Indian patients with bipolar disorder or schizophrenia, a significant difference in allele sizes >= 5 was observed in schizophrenia patients, suggesting potential functional significance.
No KCNN3 allele length association supports clinical genetic testing in bipolar disorder or schizophrenia; leaves open hypothesis for allele size differences in schizophrenia.
Bipolar affective disorder and schizophrenia are severe behavioral disorders with a lifetime risk of approximately 1% in the population worldwide. There is evidence that these diseases may manifest the phenomenon of anticipation similar to that seen in diseases caused by trinucleotide repeat expansions. A recent report has implicated a potassium channel-coding gene, KCNN3, which contains a polymorphic CAG repeat in its coding region, in schizophrenia and bipolar disorder. We have tried to confirm these findings in Indian patients suffering from bipolar disorder and schizophrenia. No statistically significant evidence for the presence of an excess of longer alleles in the patient population, as compared to ethnically matched controls, was found. However, an analysis of the difference of allele sizes revealed a significantly greater number of patients with schizophrenia having differences of allele sizes > or = 5 when compared to normal controls. This finding may be of functional significance as the KCNN3 protein is thought to act as a tetramer, and a large difference in allele sizes would result in an asymmetric molecule with a different number of glutamine residues in each monomer. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:744-748, 2000.
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Saleem et al. (2000) conducted a case-control in Bipolar disorder and schizophrenia. CAG repeats at the KCNN3 locus vs. Ethnically matched normal controls was evaluated on Excess of longer alleles in the patient population. There was no significant excess of longer KCNN3 alleles in patients with bipolar disorder or schizophrenia compared to controls, though schizophrenia patients had significantly more allele size differences ≥5.
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