A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00209805%3A_____%2F17%3A00077918" target="_blank" >RIV/00209805:_____/17:00077918 - isvavai.cz</a>
Result on the web
<a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5476671/pdf/41598_2017_Article_1674.pdf" target="_blank" >https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5476671/pdf/41598_2017_Article_1674.pdf</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1038/s41598-017-01674-8" target="_blank" >10.1038/s41598-017-01674-8</a>
Alternative languages
Result language
angličtina
Original language name
A genome-wide association study of anorexia nervosa suggests a risk locus implicated in dysregulated leptin signaling
Original language description
We conducted a genome-wide association study (GWAS) of anorexia nervosa (AN) using a stringently defined phenotype. Analysis of phenotypic variability led to the identification of a specific genetic risk factor that approached genome-wide significance (rs929626 in EBF1 (Early B-Cell Factor 1); P = 2.04 x 10-7; OR = 0.7; 95% confidence interval (CI) = 0.61-0.8) with independent replication (P = 0.04), suggesting a variant-mediated dysregulation of leptin signaling may play a role in AN. Multiple SNPs in LD with the variant support the nominal association. This demonstrates that although the clinical and etiologic heterogeneity of AN is universally recognized, further careful sub-typing of cases may provide more precise genomic signals. In this study, through a refinement of the phenotype spectrum of AN, we present a replicable GWAS signal that is nominally associated with AN, highlighting a potentially important candidate locus for further investigation.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10603 - Genetics and heredity (medical genetics to be 3)
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2017
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Scientific reports
ISSN
2045-2322
e-ISSN
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Volume of the periodical
7
Issue of the periodical within the volume
19.6.2017
Country of publishing house
GB - UNITED KINGDOM
Number of pages
9
Pages from-to
3847
UT code for WoS article
000403650300090
EID of the result in the Scopus database
2-s2.0-85021082843