Abstract:
:Long-term weight-restored patients with anorexia nervosa (AN) have lower norepinephrine levels than controls. Since this may reflect altered reuptake by the norepinephrine transporter (NET), we hypothesised that the NET gene was involved in the genetic component of AN. PCR-amplification of an AAGG repeat island (AAGG1) in the NET gene promoter region revealed a novel 343-bp sequence with five additional AAGG repeat islands (AAGG2-AAGG6). We named the sequence from AAGG1 to AAGG6 inclusive, the NET gene promoter polymorphic region (NETpPR). A 4-bp deletion (S4) or insertion (L4) in AAGG4 resulted in the net loss or gain, respectively, of a putative Elk-1 transcription factor site. The transmission disequilibrium test(TDT) with 87 Australian trios (patient plus parents) demonstrated significant preferential transmission of L4 (McNemar's chi(2) = 7.806, df = 1, P = 0.0052, odds ratio: 2.1) from parent to child with restricting AN (AN-R), suggesting that L4 or a DNA variant in linkage disequilibrium with it, doubles the risk for developing AN-R.
journal_name
Mol Psychiatryjournal_title
Molecular psychiatryauthors
Urwin RE,Bennetts B,Wilcken B,Lampropoulos B,Beumont P,Clarke S,Russell J,Tanner S,Nunn KPdoi
10.1038/sj.mp.4001080subject
Has Abstractpub_date
2002-01-01 00:00:00pages
652-7issue
6eissn
1359-4184issn
1476-5578journal_volume
7pub_type
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