The DOI matches its Crossref record; 76 of the 76 references it cites were found in a registry or an index.
Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus
Open accessAbstract
Systemic lupus erythematosus (SLE) is a genetically complex autoimmune disease characterized by loss of immune tolerance to nuclear and cell surface antigens. Previous genome-wide association studies (GWAS) had modest sample sizes, reducing their scope and reliability. Our study comprised 7,219 cases and 15,991 controls of European ancestry, constituting a new GWAS, a meta-analysis with a published GWAS and a replication study. We have mapped 43 susceptibility loci, including ten new associations. Assisted by dense genome coverage, imputation provided evidence for missense variants underpinning associations in eight genes. Other likely causal genes were established by examining associated alleles for cis-acting eQTL effects in a range of ex vivo immune cells. We found an over-representation (n = 16) of transcription factors among SLE susceptibility genes. This finding supports the view that aberrantly regulated gene expression networks in multiple cell types in both the innate and adaptive immune response contribute to the risk of developing SLE.
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Cites
Principal components analysis corrects for stratification in genome-wide association studies
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006) · Nature Genetics · doi:10.1038/ng1847 · Cited by 10,248
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
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An integrated map of genetic variation from 1,092 human genomes
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Genomic Control for Association Studies
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Genome-wide association studies for common diseases and complex traits
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A new multipoint method for genome-wide association studies by imputation of genotypes
Marchini, J., Howie, B., Myers, S., McVean, G., & Donnelly, P. (2007) · Nature Genetics · doi:10.1038/ng2088 · Cited by 2,609
Systematic identification of trans eQTLs as putative drivers of known disease associations
Westra, H.-J., Peters, M. J., Esko, T., Yaghootkar, H., Schurmann, C., Kettunen, J., Christiansen, M. W., Fairfax, B. P., Schramm, K., Powell, J. E., et al. (2013) · Nature Genetics · doi:10.1038/ng.2756 · Cited by 1,658
Self-citationGenotype imputation for genome-wide association studies
Marchini, J., & Howie, B. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2796 · Cited by 1,627
The International Consortium for Systemic Lupus Erythematosus Genetics (SLEGEN), Harley, J. B., Alarcón-Riquelme, M. E., Criswell, L. A., Jacob, C. O., Kimberly, R. P., Moser, K. L., Tsao, B. P., Vyse, T. J., & Langefeld, C. D. (2008) · Nature Genetics · doi:10.1038/ng.81 · Cited by 1,309
Self-citationNew approaches to population stratification in genome-wide association studies
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Cited by
The GTEx Consortium atlas of genetic regulatory effects across human tissues
The GTEx Consortium, Aguet, F., Anand, S., Ardlie, K. G., Gabriel, S., Getz, G. A., Graubert, A., Hadley, K., Handsaker, R. E., Huang, K. H., et al. (2020) · Science · doi:10.1126/science.aaz1776 · Cited by 5,547
Self-citationVõsa, U., Claringbould, A., Westra, H.-J., Bonder, M. J., Deelen, P., Zeng, B., Kirsten, H., Saha, A., Kreuzhuber, R., Yazar, S., et al. (2021) · Nature Genetics · doi:10.1038/s41588-021-00913-z · Cited by 2,607
Self-citationComplex genetic signatures in immune cells underlie autoimmunity and inform therapy
Orrù, V., Steri, M., Sidore, C., Marongiu, M., Serra, V., Olla, S., Sole, G., Lai, S., Dei, M., Mulas, A., et al. (2020) · Nature Genetics · doi:10.1038/s41588-020-0684-4 · Cited by 1,246
A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci
Chang, D., Nalls, M. A., Hallgrímsdóttir, I. B., Hunkapiller, J., van der Brug, M., Cai, F., International Parkinson's Disease Genomics Consortium, 23andMe Research Team, Kerchner, G. A., Ayalon, G., et al. (2017) · Nature Genetics · doi:10.1038/ng.3955 · Cited by 1,112
Self-citationFinucane, H. K., Reshef, Y. A., Anttila, V., Slowikowski, K., Gusev, A., Byrnes, A., Gazal, S., Loh, P.-R., Lareau, C., Shoresh, N., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0081-4 · Cited by 1,097
Metadata
- Authors
- Bentham, J., Morris, D. L., Cunninghame Graham, D. S., Pinder, C. L., Tombleson, P., Behrens, T. W., Martín, J., Fairfax, B. P., Knight, J. C., Chen, L., Replogle, J., Syvänen, A.-C., Rönnblom, L., Graham, R. R., Wither, J. E., Rioux, J. D., Alarcón-Riquelme, M. E., & Vyse, T. J.
- Venue
- Nature Genetics
- Published
- 2015-10-26
- Volume
- 47
- Issue
- 12
- Pages
- 1457-1464
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2163749231
- Cited by
- 1,020
- References
- 76
- FWCI
- 45.94
- Type
- journal article
- Language
- en
- Open access
- green
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- Bentham, J., Morris, D. L., Cunninghame Graham, D. S., Pinder, C. L., Tombleson, P., Behrens, T. W., Martín, J., Fairfax, B. P., Knight, J. C., Chen, L., Replogle, J., Syvänen, A.-C., Rönnblom, L., Graham, R. R., Wither, J. E., Rioux, J. D., Alarcón-Riquelme, M. E., & Vyse, T. J. (2015). Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. Nature Genetics. https://doi.org/10.1038/ng.3434
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
