Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa.
Anorexia nervosa
CYFIP1
Copy number variation
NIPA1
NIPA2
Journal
Journal of psychiatric research
ISSN: 1879-1379
Titre abrégé: J Psychiatr Res
Pays: England
ID NLM: 0376331
Informations de publication
Date de publication:
06 2019
06 2019
Historique:
received:
28
08
2018
revised:
14
12
2018
accepted:
25
01
2019
pubmed:
18
3
2019
medline:
2
7
2020
entrez:
18
3
2019
Statut:
ppublish
Résumé
Microduplication at 15q11.2 have been reported in genetic association studies of schizophrenia and autism. Given the potential overlap in psychiatric symptoms of schizophrenia and autism with anorexia nervosa (AN), we were inspired to test the association of this CNV locus with the genetic susceptibility of AN using ParseCNV, a highly quality controlled CNV pipeline developed by our group. The CNV analysis was performed in 1017 AN cases and 7250 controls using the Illumina HumanHap610 SNP arrays data. We uncovered association of the 15q11.2 microduplication with AN with P = 0.00023, while no genetic association between the microdeletion of this region and AN was identified. Among four genes in this region that are not imprinted, NIPA1 has the highest expression in brain and encodes a magnesium transporter protein on early endosomes and the cell surface in neurons. Targeting at Mg
Identifiants
pubmed: 30878790
pii: S0022-3956(18)31029-X
doi: 10.1016/j.jpsychires.2019.01.021
pmc: PMC6486445
mid: NIHMS1524030
pii:
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
34-38Subventions
Organisme : NHGRI NIH HHS
ID : U01 HG008684
Pays : United States
Informations de copyright
Copyright © 2019 Elsevier Ltd. All rights reserved.
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