Analysis of DRPLA trinucleotide repeats in schizophrenia

Guedj, Fayçal; Cao, Qian; Cravchik, Anibal; A, Ram; Badner, Judith A.; Es, Gershon; Pv, Gejman

doi:10.1097/00041444-199621000-00007

Cited by 1 publication

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“…A number of groups have conducted studies at the B37 locus using familial cases of schizophrenia and no statistically significant association has been found; although, with the exception of the study by Guedj et al [1996], not all results have been conclusive. Using the transmission Guedj et al [1996] found no association between the B37 CAG repeat and schizophrenia. Although no statistically significant association between the B37 gene and schizophrenia has been found in other studies, some nonsignificant trends have been apparent.…”

Section: Discussionmentioning

confidence: 98%

“…Various groups have looked for expanded CAG repeats in the B37 gene in schizophrenic patients [Lesch et al, 1994, Rubinsztein et al, 1994b, Jones Brando et al, 1996 and have only found alleles within the normal range. In addition to the search for expanded alleles, Guedj et al [1996] tested for an association with schizophrenia using the transmission disequilibrium test, and found no association in their families. However Sasaki et al [1996] found a trend towards a difference in allele counts between their sample of unrelated schizophrenic patients and controls.…”

Section: Introductionmentioning

confidence: 99%

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Analysis of the CAG repeats in the SCA1 and B37 genes in schizophrenic and bipolar I disorder patients: Tentative association between B37 and schizophrenia

et al. 1997

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We have genotyped unrelated French Alsatian schizophrenic and bipolar I disorder (BPD) patients and matched controls for the polymorphic CAG repeats within the genes for spinocerebellar ataxia type 1 (SCA1) and dentatorubral-pallidoluysian atrophy (B37), in order to test their possible involvement in these disorders. No alleles with abnormally expanded repeats were found in either gene in patients and controls. Differences in allele and genotype frequencies for the SCA1 CAG repeat between patients and controls were not significant, thus providing no support for its role as a possible positional candidate gene for schizophrenia and BPD in our patients. Chi square testing revealed a significant result (P = 0.019) for an association between the B37 CAG repeat on chromosome 12p and schizophrenia. This result was more significant when only schizophrenics with a positive family history were compared with controls (P = 0.0001). The frequencies of alleles with 14, 12, and 15 CAG repeats differed the most, respectively, between schizophrenics and controls. When choosing the median of the B37 allele distribution (15 CAG repeats) as a threshold, there were significantly more controls than schizophrenics in the group with longer alleles (15 or more repeats) and more schizophrenics with shorter alleles (P = 0.002 by Fisher exact test). No particular genotype was associated with schizophrenia. This result possibly indicates linkage disequilibrium with another locus on chromosome 12p and therefore deserves further attention. No association was found between the B37 CAG repeat and patients with BPD.

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Section: Discussionmentioning

confidence: 98%