| Title |
Genome-wide association study of aspirin-exacerbated respiratory disease in a Korean population
|
|---|---|
| Published in |
Human Genetics, November 2012
|
| DOI | 10.1007/s00439-012-1247-2 |
| Pubmed ID | |
| Authors |
Byung Lae Park, Tae-Hoon Kim, Jeong-Hyun Kim, Joon Seol Bae, Charisse Flerida A. Pasaje, Hyun Sub Cheong, Lyoung Hyo Kim, Jong-Sook Park, Ho Sung Lee, Myung-Sin Kim, Inseon S. Choi, Byoung Whui Choi, Mi-Kyeong Kim, SeungWoo Shin, Hyoung Doo Shin, Choon Sik Park |
| Abstract |
Aspirin-exacerbated respiratory disease (AERD) is a nonallergic clinical syndrome characterized by a severe decline in forced expiratory volume in one second (FEV1) following the ingestion of non-steroidal anti-inflammatory drugs (NSAIDs) such as aspirin. The effects of genetic variants have not fully explained all of the observed individual differences to an aspirin challenge despite previous attempts to identify AERD-related genes. In the present study, we performed genome-wide association study (GWAS) and targeted association study in Korean asthmatics to identify new genetic factors associated with AERD. A total of 685 asthmatic patients without AERD and 117 subjects with AERD were used for the GWAS of the first stage, and 996 asthmatics without AERD and 142 subjects with AERD were used for a follow-up study. A total of 702 SNPs were genotyped using the GoldenGate assay with the VeraCode microbead. GWAS revealed the top-ranked variants in 3' regions of the HLA-DPB1 gene. To investigate the detailed genetic effects of an associated region with the risk of AERD, a follow-up targeted association study with the 702 single nucleotide polymorphisms (SNPs) of 14 genes was performed on 802 Korean subjects. In a case-control analysis, HLA-DPB1 rs1042151 (Met105Val) shows the most significant association with the susceptibility of AERD (p = 5.11 × 10(-7); OR = 2.40). Moreover, rs1042151 also shows a gene dose for the percent decline of FEV1 after an aspirin challenge (p = 2.82 × 10(-7)). Our findings show that the HLA-DPB1 gene polymorphism may be the most susceptible genetic factor for the risk of AERD in Korean asthmatics and confirm the importance of HLA-DPB1 in the genetic etiology of AERD. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 46 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Ukraine | 1 | 2% |
| Unknown | 45 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Doctoral Student | 8 | 17% |
| Student > Master | 6 | 13% |
| Researcher | 6 | 13% |
| Other | 4 | 9% |
| Professor > Associate Professor | 4 | 9% |
| Other | 5 | 11% |
| Unknown | 13 | 28% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 9 | 20% |
| Medicine and Dentistry | 8 | 17% |
| Biochemistry, Genetics and Molecular Biology | 4 | 9% |
| Pharmacology, Toxicology and Pharmaceutical Science | 4 | 9% |
| Computer Science | 2 | 4% |
| Other | 5 | 11% |
| Unknown | 14 | 30% |
Attention Score in Context
This research output has an Altmetric Attention Score of 7. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 01 January 2022.
All research outputs
#5,148,140
of 24,727,020 outputs
Outputs from Human Genetics
#490
of 3,067 outputs
Outputs of similar age
#50,351
of 286,653 outputs
Outputs of similar age from Human Genetics
#5
of 14 outputs
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