DNA polymorphism related to HLA-DR2 Dw2 in patients with narcolepsy

Marcadet, A.; Gebuhrer, L.; Bétuel, H; Seignalet, J; Ac, Freidel; Confavreux, C; Billiard, Michel; Dausset, J; Cohen, Daniel

doi:10.1007/bf00430317

Cited by 60 publications

(16 citation statements)

References 13 publications

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“…The initial HLA class I serological data in narcolepsy with a Bw35 association in Japanese patients (Honda et al 1982) and an increased frequency of B7 in French patients (Seignalet and Billiard 1984), together with the DR2 association observed in different ethnic groups (Juji et al 1984;Langdon et al 1984;Billiard and Seignalet 1985) pointed to the Dw2 subtype of DR2. The Dw2 association in narcolepsy has subsequently been confirmed by cellular typing ) and by RFLP analysis (Marcadet et al 1985;Inoko et al 1986;Holloman et al 1987;Matsuki et al 1988;Wilner et al 1988). Matsuki and co-workers (1985) found decreased frequencies of DR1, DRw8, DR9, and DRwl3 in Japanese narcoleptics and Mueller-Eckhardt and co-workers (1986) observed a decrease of DR1 and DRw6 in German patients.…”

Section: Discussionmentioning

confidence: 87%

“…In three studies (Marcadet et al 1985;Inoko et al 1986;Matsuki et al 1988), DQA and DQB RFLPs were described that might differentiate between DR2-positive narcoleptics and DR2-positive controls. As implied by the authors of these reports, every observed RFLP can be explained by the fact that all DR2-positive patients carried genes in a Caucasoid patient with narcolepsy only showed minor differences compared to sequences from healthy Dw2-positive controls (Lock et al 1988).…”

Section: Discussionmentioning

confidence: 99%

“…Patients, DRwl5,DQw6,Dw2-positive controls, and the Dw2-homozygous cell lines all shared the Taq I DQA and Barn HI, Eco Ri, Eco RV, and Pst I DQB restriction fragments that have been implicated in previous studies to differentiate between DR2-positive narcoleptics and controls (Marcadet et al 1985;Inoko et al 1986;Matsuki et al 1988; Table 1 DRwl5,DQw6,, heterozygous (n = 39), and negative (n = 0) patients differed significantly from the expected numbers (16.1, 22.8, and 8.1, respectively) under a recessive model (P< 10-6). The data obtained were very close to the expectations (8.4, 38.2, and 0.4, respectively) for an additive or dominant mode of inheritance.…”

Section: Hla-dr and -Dqmentioning

confidence: 96%

“…Furthermore, Eco RI and Eco RV DQB (Marcadet et al 1985), Barn HI, Eco RI, and Pst I DQB , and Taq I DQA (Matsuki et al 1988) restriction fragment length polymorphisms (RFLPs) have been described that might differentiate between DR2-positive French and Japanese patients with narcolepsy and DR2-positive controls. The aims of the present study were to investigate these issues in a Swedish group of narcoleptics, to look for HLA-DP associations, and finally to determine how far centromerically the narcolepsy-associated DRwl5, DQw6,Dw2 haplotype extends.…”

Section: Introductionmentioning

confidence: 99%

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The narcolepsy-associatedDRw15, DQw6, Dw2 haplotype has no uniqueHLA-DQA or -DQB restriction fragments and does not extend to theHLA-DP subregion

et al. 1990

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Almost all patients with cataplectic narcolepsy are DR2-positive. It has been suggested that the non-DR2 allele/haplotype might not be neutral with respect to disease susceptibility. It has also been reported that Taq I DQA and Bam HI, Eco RI, Eco RV, and Pst I DQB restriction fragments might differentiate between narcoleptic and healthy DR2-positive individuals. In the present study, HLA class II gene polymorphisms were investigated by restriction fragment length polymorphism (RFLP) analysis in 47 Swedish patients with cataplectic narcolepsy, 100 random controls, and DR2-associated homozygous cell lines. All patients had Taq I DRB-DQA-DQB patterns corresponding to the DRw15,DQw6,Dw2 haplotype. The non-DR2 haplotype was found to be neutral. This genotyped group of patients allows firm rejection of a recessive mode of inheritance and supports a dominant or additive model. No DQA or DQB RFLPs were found that could differentiate between DR2-positive narcoleptics, DRw15,DQw6,Dw2-positive controls, or Dw2-homozygous cell lines. No significant Msp I HLA-DP association was found. No linkage disequilibrium was observed between the DRw15,DQw6,Dw2 haplotype and alleles of the DP subregion in patients or controls. Thus, the HLA-D region-associated narcolepsy susceptibility gene may be located telomeric to the HLA-DP subregion. No RFLPs have been observed that can locate the narcolepsy susceptibility gene closer to the DQ than to the DR subregion.

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Section: Discussionmentioning

confidence: 87%

Section: Discussionmentioning

confidence: 99%

Section: Hla-dr and -Dqmentioning

confidence: 96%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

The narcolepsy-associatedDRw15, DQw6, Dw2 haplotype has no uniqueHLA-DQA or -DQB restriction fragments and does not extend to theHLA-DP subregion

et al. 1990

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“…Certains types HLA sont associés à des prédispositions ou des susceptibilités génétiques à des maladies ( [5,8,[11][12][13][14][15].…”

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HLA: hommage à Jean Dausset, prix Nobel de médecine (1916–2009)

Ly¹

2009

J Afr Cancer

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Pseudoautosomal region in schizophrenia: Sex concordance of the affected sibpairs and the association study with DNA markers

et al. 1993

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To test a hypothesis that the pseudoautosomal region of the sex chromosomes contributes to the pathogenesis of schizophrenia, we carried out the following studies: First, the sex concordant rates of 77 schizophrenic sibpairs were examined. Secondly, 46 schizophrenic patients and 150 healthy controls were tested for association with DXYS17, DXYS20, DXYS28, and MIC2 in the pseudoautosomal region. Sex concordant rates in sibpairs with schizophrenia were not higher than would be expected by chance. No significant associations were found between four DNA markers we tested and schizophrenia. These results did not support the hypothesis; however, linkage disequilibrium can only be detected if the marker and trait loci are located close enough. Linkage analyses in multiplex families need to be carried out before ruling out this region as a location for a gene for schizophrenia.

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DNA polymorphism related to HLA-DR2 Dw2 in patients with narcolepsy

Cited by 60 publications

References 13 publications

The narcolepsy-associatedDRw15, DQw6, Dw2 haplotype has no uniqueHLA-DQA or -DQB restriction fragments and does not extend to theHLA-DP subregion

The narcolepsy-associatedDRw15, DQw6, Dw2 haplotype has no uniqueHLA-DQA or -DQB restriction fragments and does not extend to theHLA-DP subregion

HLA: hommage à Jean Dausset, prix Nobel de médecine (1916–2009)

Pseudoautosomal region in schizophrenia: Sex concordance of the affected sibpairs and the association study with DNA markers

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