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Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis
- Source :
- Nature Genetics. 40:1103-1106
- Publication Year :
- 2008
- Publisher :
- Springer Science and Business Media LLC, 2008.
-
Abstract
- Stefan Schreiber and colleagues report the results of a genome-wide association study for sarcoidosis, a complex chronic inflammatory disorder. Variants near ANXA11 and PLAC9 are associated with elevated risk of the disease, with ANXA11 as the stronger candidate. Sarcoidosis is a complex chronic inflammatory disorder with predominant manifestation in the lung. In the first genome-wide association study (>440,000 SNPs) of this disease, comprising 499 German individuals with sarcoidosis and 490 controls, we detected a series of genetic associations. The strongest association signal maps to the ANXA11 (annexin A11) gene on chromosome 10q22.3. Validation in an independent sample (1,649 cases, 1,832 controls) confirmed the association (SNP rs2789679: P = 3.0 × 10−13, rs7091565: P = 1.0 × 10−5, allele-based test). Extensive fine mapping located the association signal to a region between exon 5 and exon 14 of ANXA11. A common nonsynonymous SNP (rs1049550, C > T, R230C) was found to be strongly associated with sarcoidosis. The GWAS lead SNP and additional risk variants in the region (rs1953600, rs2573346, rs2784773) were in strong linkage disequilibrium with rs1049550. Annexin A11 has complex and essential functions in several biological pathways, including apoptosis and proliferation.
- Subjects :
- Pulmonary and Respiratory Medicine
Models, Molecular
Linkage disequilibrium
Systemic disease
Sarcoidosis
Annexins
Single-nucleotide polymorphism
Genome-wide association study
Validation Studies as Topic
Biology
Polymorphism, Single Nucleotide
Exon
Sequence Analysis, Protein
Genetics
medicine
Humans
SNP
Genetic Predisposition to Disease
Amino Acid Sequence
Allele
Gene
Chromosomes, Human, Pair 10
Genome, Human
Chromosome Mapping
medicine.disease
Genome-Wide Association Study
Subjects
Details
- ISSN :
- 15461718 and 10614036
- Volume :
- 40
- Database :
- OpenAIRE
- Journal :
- Nature Genetics
- Accession number :
- edsair.doi.dedup.....a95b31e5ce0469a13719736f08dd0fae