Association studies of polymorphisms near NOTCH4 in bipolar disorder

S. Prathikanti, Y. S. Chen, T. G. Schulze, K. Kelly, J. Lyons, S. Potluri, F. J. McMahon

Research output: Contribution to journalArticlepeer-review


Markers near the NOTCH4 locus on chromosome 6p21.3 were reported to be associated with susceptibility to schizophrenia [Wei & Hemmings 2000]. Since schizophrenia and bipolar affective disorder (BPAD) may share genetic determinants, we tested some of the same markers in a sample of 153 parent-offspring triads ascertained through a sibling pair with BPAD. This sample would have 80% power to detect an association at or above a genotype relative risk of 2.4 at the X10 -7 level of significance. The 2 markers showing the most significant association with schizophrenia in the previous study were genotyped. One marker was a single nucleotide polymorphism (SNP) located within a MspI restriction site. Genomic DNA was amplified by PCR, digested with MspI, and resolved on 2% agarose gels. The second marker, a CTG trinucleotide repeat is currently being genotyped by semi-automated, fluorescent methods. Association between both single marker and 2-marker haplotype data is analyzed with the transmission/disequilibrium test. No statistically significant association was detected between the SNP marker and BPAD in this sample (X2 = 3.85, df = 1, P = .058). However, only 75 families were informative for the analysis due to the low heterozygosity of the SNP marker. Based on these data, we cannot reject the hypothesis that markers near NOTCH4 are associated with BPAD. Additional power may accrue when we include data from the CTG trinucleotide repeat marker in the analysis.

Original languageEnglish (US)
Number of pages1
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number7
StatePublished - Oct 8 2001

ASJC Scopus subject areas

  • Genetics(clinical)
  • Psychiatry and Mental health
  • Cellular and Molecular Neuroscience


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