The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity
Open accessAbstract
Common and rare variants associated with body mass index (BMI) and obesity account for <5% of the variance in BMI. We performed SNP and copy number variation (CNV) association analyses in 1,509 children with obesity at the extreme tail (>3 s.d. from the mean) of the BMI distribution and 5,380 controls. Evaluation of 29 SNPs (P < 1 × 10−5) in an additional 971 severely obese children and 1,990 controls identified 4 new loci associated with severe obesity (LEPR, PRKCH, PACS1 and RMST). A previously reported 43-kb deletion at the NEGR1 locus was significantly associated with severe obesity (P = 6.6 × 10−7). However, this signal was entirely driven by a flanking 8-kb deletion; absence of this deletion increased risk for obesity (P = 6.1 × 10−11). We found a significant burden of rare, single CNVs in severely obese cases (P < 0.0001). Integrative gene network pathway analysis of rare deletions indicated enrichment of genes affecting G protein–coupled receptors (GPCRs) involved in the neuronal regulation of energy homeostasis.
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Self-citationMultiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol
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The genetics of obesity: From discovery to biology
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Self-citationDepression and obesity: evidence of shared biological mechanisms
Milaneschi, Y., Simmons, W. K., van Rossum, E. F. C., & Penninx, B. W. (2019) · Molecular Psychiatry · doi:10.1038/s41380-018-0017-5 · Cited by 1,073
The UK10K project identifies rare variants in health and disease
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Self-citationSniekers, S., Stringer, S., Watanabe, K., Jansen, P. R., Coleman, J. R. I., Krapohl, E., Taskesen, E., Hammerschlag, A. R., Okbay, A., Zabaneh, D., et al. (2017) · Nature Genetics · doi:10.1038/ng.3869 · Cited by 490
Metadata
- Authors
- Wheeler, E., Huang, N., Bochukova, E. G., Keogh, J. M., Lindsay, S., Garg, S., Henning, E., Blackburn, H., Loos, R. J. F., Wareham, N. J., O'Rahilly, S., Hurles, M. E., Barroso, I., & Farooqi, I. S.
- Venue
- Nature Genetics
- Published
- 2013-04-07
- Volume
- 45
- Issue
- 5
- Pages
- 513-517
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1990598085
- Cited by
- 323
- References
- 9
- FWCI
- 24.28
- Type
- journal article
- Language
- en
- Open access
- green
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- Wheeler, E., Huang, N., Bochukova, E. G., Keogh, J. M., Lindsay, S., Garg, S., Henning, E., Blackburn, H., Loos, R. J. F., Wareham, N. J., O'Rahilly, S., Hurles, M. E., Barroso, I., & Farooqi, I. S. (2013). Genome-wide SNP and CNV analysis identifies common and low-frequency variants associated with severe early-onset obesity. Nature Genetics. https://doi.org/10.1038/ng.2607
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