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Two commonly expand...
Two commonly expanded CAG/CTG repeat loci : involvement in affectivedisorders?
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Lindblad, K (författare)
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Nylander, PO (författare)
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Zander, C (författare)
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visa fler...
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Yuan, QP (författare)
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Ståhle, L (författare)
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Engström, C (författare)
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- Balciuniene, J (författare)
- Uppsala universitet,Medicinsk genetik,Psychiatric Genetics
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- Pettersson, Ulf (författare)
- Uppsala universitet,Medicinsk genetik
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Breschel, T (författare)
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- McInnis, M (författare)
- Karolinska Institutet
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Ross, CA (författare)
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Adolfsson, R (författare)
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Schalling, M (författare)
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(creator_code:org_t)
- Springer Science and Business Media LLC, 1998
- 1998
- Engelska.
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Ingår i: Molecular Psychiatry. - : Springer Science and Business Media LLC. - 1359-4184 .- 1476-5578. ; 3:5, s. 405-410
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http://www.nature.co...
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https://urn.kb.se/re...
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http://kipublication...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- An association between bipolar affective disorder and CAG/CTG trinucleotide repeat expansions (TRE) has previously been detected using the repeat expansion detection (RED) method. Here we report that 89% of RED products (CAG/CTG repeats) > 120 nt (n = 202) detected in affective disorder patients as well as unaffected family members and controls correlate with expansions at two repeat loci, ERDA1 on chromosome 17q21.3 and CTG18.1 on 18q21.1. In a set of patients and controls in which we had previously found a significant difference in RED size distribution, the frequency of expansions at the CTG18.1 locus was 13% in bipolar patients (n = 60) and 5% in controls (n = 114) (P < 0.07) with a significantly different size distribution (P < 0.03). A second set of patients were ascertained from 14 affective disorder families showing anticipation. Twelve of the families had members with RED products > 120 nt. The RED product distribution was significantly different (P < 0.0007) between affected (n = 53) and unaffected (n = 123) offspring. Using PCR, a higher frequency (P < 0.04) of CTG18.1 expansions as well as a different (P < 0.02) repeat size distribution was seen between affected and unaffected offspring. In addition, a negative correlation between RED product size and the age-of-onset could be seen in affected offspring (rs = -0.3, P = 0.05, n = 43). This effect was due to an earlier onset in individuals with long CTG18.1 expansions. No difference in ERDA1 expansion frequency was seen either between bipolar patients (35%, n = 60) and matched controls (29%, n = 114), or between affected and unaffected offspring in the families. We conclude that expanded alleles at the CTG18.1 locus confers an odds ratio of 2.6-2.8 and may thus act as a vulnerability factor for affective disorder, while the ERDA1 locus seems unrelated to disease.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
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Lindblad, K
-
Nylander, PO
-
Zander, C
-
Yuan, QP
-
Ståhle, L
-
Engström, C
-
visa fler...
-
Balciuniene, J
-
Pettersson, Ulf
-
Breschel, T
-
McInnis, M
-
Ross, CA
-
Adolfsson, R
-
Schalling, M
-
visa färre...
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Molecular Psychi ...
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Uppsala universitet
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Karolinska Institutet