The NOTCH4 locus and schizophrenia: Analyses in the german and palestinian Arab population

S. Cichon, J. Schumacher, R. Ivo, F. Macchiardi, T. G. Schulze, D. J. Müller, I. Kremer, M. Dobrusin, M. Mujaheed, I. Murad, M. Blanaru, I. Bannoura, A. Reshef, R. Bachner-Melman, R. H. Belmaker, R. P. Ebstein, W. Maier, M. Rietschel, P. Propping, M. M. Nöthen

Research output: Contribution to journalArticlepeer-review

4 Scopus citations


Recently, the NOTCH4 locus on chromosomal region 6p has been reported to be associated with schizophrenia in the British population [Wei & Hemmings, Nature Genet. 25: 376-377 (2000)]. In order to replicate this finding in independent schizophrenia samples, we examined four variants [(TAA)n repeat, SNP1, SNP2, (CTG)n repeat] in the 5′-flanking region and in the coding region of the NOTCH4 gene in 159 parent-offspring trio samples of German and 209 of Palestinian Arab descent. TDT analysis revealed significant linkage disequilibrium (LD) of schizophrenia with the (TAA)n repeat in the Palestinian Arab sample (P = 0.0082) and a borderline significant trend in the German sample (P = 0.0547). In addition, two distinct four-marker haplotypes displayed association in the German (P = 0.0038) and Palestinian Arab (P = 0.0111 ) trio samples. The observation of different associated alleles and haplotypes in the populations studied by Wei & Hemmings and our group may be explained by the existence of a so far unknown functional variant at the NOTCH4 locus involved in the development of schizophrenia. Therefore, we sought for additional variants using SSCA. We identified nine SNPs that are currently tested for association with schizophrenia in the German and Palestinian Arab samples.

Original languageEnglish (US)
Pages (from-to)571
Number of pages1
JournalAmerican Journal of Medical Genetics - Neuropsychiatric Genetics
Issue number7
StatePublished - Oct 8 2001
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)


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