Genome-Wide Association Study of Peripheral Arterial Disease in a Japanese Population.
case_control · Level III
Where this comes from
- Record sourced from PubMed, PMID 26488411.
- Also identified by DOI 10.1371/journal.pone.0139262 and PMC identifier 4619060.
- Licence recorded as CC BY.
- The licence permits redistribution, so the abstract is shown in full and the full text is available from the publisher.
Abstract
Characteristics of peripheral arterial disease (PAD) are the occlusion or stenosis of multiple vessel sites caused mainly by atherosclerosis and chronic lower limb ischemia. To identify PAD susceptible loci, we conducted a genome-wide association study (GWAS) with 785 cases and 3,383 controls in a Japanese population using 431,666 single nucleotide polymorphisms (SNP). After staged analyses including a total of 3,164 cases and 20,134 controls, we identified 3 novel PAD susceptibility loci at IPO5/RAP2A, EDNRA and HDAC9 with genome wide significance (combined P = 6.8 x 10-14, 5.3 x 10-9 and 8.8 x 10-8, respectively). Fine-mapping at the IPO5/RAP2A locus revealed that rs9584669 conferred risk of PAD. Luciferase assay showed that the risk allele at this locus reduced expression levels of IPO5. To our knowledge, these are the first genetic risk factors for PAD.
Medical subject headings
- Genome-Wide Association Study
- Histone Deacetylases
- Peripheral Arterial Disease
- Polymorphism, Single Nucleotide
- Receptor, Endothelin A
- Repressor Proteins
- beta Karyopherins
- rap GTP-Binding Proteins