A genome-wide association study on common SNPs and rare CNVs in anorexia nervosa
Open accessAbstract
Anorexia nervosa (AN) is a mental illness with high mortality that most commonly afflicts adolescent female individuals. Clinical symptoms include chronic food refusal, weight loss and body image distortions. We carried out a genome-wide association study on 1033 AN cases and 3733 pediatric control subjects, all of whom were of European ancestry and were genotyped on the Illumina HumanHap610 platform (Illumina, San Diego, CA, USA). We confirmed that common single-nucleotide polymorphisms (SNPs) within OPRD1 (rs533123, P=0.0015) confer risk for AN, and obtained suggestive evidence that common SNPs near HTR1D (rs7532266, P=0.04) confer risk for restricting-type AN specifically. However, no SNPs reached genome-wide significance in our data, whereas top association signals were detected near ZNF804B, CSRP2BP, NTNG1, AKAP6 and CDH9. In parallel, we performed genome-wide analysis on copy number variations (CNVs) using the signal intensity data from the SNP arrays. We did not find evidence that AN cases have more CNVs than control subjects, nor do they have over-representation of rare or large CNVs. However, we identified several regions with rare CNVs that were only observed in AN cases, including a recurrent 13q12 deletion (1.5 Mb) disrupting SCAS in two cases, and CNVs disrupting the CNTN6/CNTN4 region in several AN cases. In conclusion, our study suggests that both common SNPs and rare CNVs may confer genetic risk to AN. These results point to intriguing genes that await further validation in independent cohorts for confirmatory roles in AN.
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In ADHD, increased SV burden has been reported (OR=2.1).
“In ADHD, increased SV burden has been reported (OR=2.1), 118,119”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [118]
The effect of increased SV burden is higher in ADHD cases with MR (OR=5.7).
“an effect higher in ADHD cases with MR (OR=5.7). 118”
From Genetic architectures of psychiatric disorders: the emerging picture and its implications (2012) · cites this paper as [118]
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- Authors
- Wang, K., Zhang, H., Bloss, C. S., Duvvuri, V, Kaye, W., Schork, N. J., Berrettini, W., Hakonarson, H., & the Price Foundation Collaborative Group
- Affiliations
- Children's Hospital of Philadelphia (US)
- Scripps Health (US)
- University of California San Diego (US)
- Scripps Research Institute (US)
- University of Pennsylvania (US)
- Corresponding author
- Hakonarson, H
- Venue
- Molecular Psychiatry
- Published
- 2010-11-16
- Volume
- 16
- Issue
- 9
- Pages
- 949-959
- ISSN
- 1359-4184 (ISSN-L)
- 1476-5578
- OpenAlex
- W2063838385
- Semantic Scholar
- bc60cdc3b1c17e24191e7b16b4c0ba81b4175dc0
- Cited by
- 212
- References
- 53
- Citations by year
- 2026: 6 · 2025: 13 · 2024: 9 · 2023: 7 · 2022: 8 · 2021: 15 · 2020: 8 · 2019: 12 · 2018: 13 · 2017: 22 · 2016: 20 · 2015: 21 · 2014: 14 · 2013: 24 · 2012: 11
- FWCI
- 15.41
- Type
- journal article
- Language
- en
- Open access
- green
- nrs.harvard.edu
- Locations
- Molecular Psychiatry (publishedVersion)
- PubMed (publishedVersion)
- Digital Access to Scholarship at Harvard (DASH) (Harvard University) (submittedVersion, cc-by)
- Funders
- National Institute of Mental Health (T32MH076694)
- National Institute of Diabetes and Digestive and Kidney Diseases (P30DK050456)
- National Center for Research Resources (U54 RR0252204-01)
- Topics
- Social Sciences › Psychology › Clinical Psychology › Eating Disorders and Behaviors
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- anorexia nervosa, single nucleotide polymorphisms, copy number variation, genetic risk, delta opioid receptor, pediatric patients
- MeSH terms
- Adolescent, Adult, Anorexia Nervosa, Child, Female, Genotype, Humans, Case-Control Studies, Receptors, Opioid, delta, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, White People, Genome-Wide Association Study, DNA Copy Number Variations
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