Neurofibromatosis type 1 (NF1) is increased about 150-fold in autistic patients. The aim of this study was to test for an association between the NF1 locus and autistic disorder. The allele distributions of three markers of the NF1 gene were studied in 85 autistic patients and 90 controls. No differ
Association and linkage studies of CRH and PENK genes in bipolar disorder: A collaborative IGSLI study
✍ Scribed by Alda, Martin; Turecki, Gustavo; Grof, Paul; Cavazzoni, Patrizia; Duffy, Anne; Grof, Eva; Ahrens, Bernd; Bergh�fer, Anne; M�ller-Oerlinghausen, Bruno; Dvo?�kov�, Marta; Libigerov�, Eva; Vojt??chovsk�, Milo?; Zvolsk�, Petr; Joober, Ridha; Nilsson, Agneta; Prochazka, Helena; Licht, Rasmus W.; Rasmussen, Niels A.; Schou, Mogens; Vestergaard, Per; Holzinger, Anita; Schumann, Claudia; Thau, Kenneth; Rouleau, Guy A.
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 12 KB
- Volume
- 96
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(20000403)96:2<178::aid-ajmg11>3.0.co;2-c
No coin nor oath required. For personal study only.
✦ Synopsis
Corticotropin-releasing hormone (CRH) and proenkephalin (PENK) are hypothalamic peptides involved in the stress response and hypothalamic-pituitary axis regulation. Previous research has implicated these peptides in the pathogenesis of affective disorders. In this study we investigated two polymorphisms located in the genes that code for CRH and PENK by means of association and linkage analyses. A total of 138 bipolar patients and 108 controls were included in the association study. In addition, 24 families were available for linkage analysis, including six families of probands with documented periodic positivity of dexamethasone suppression tests (DST) during remission. We found no association of bipolar disorder with either gene. Similarly, we did not find any evidence of linkage (P = 0.56 for CRH and 0.52 for PENK) in the entire sample or in the subsample of families of DST positive probands. In conclusion, our study does not support the hypothesis that genes coding for CRH or PENK contribute to the genetic susceptibility to
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