| Title |
The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome
|
|---|---|
| Published in |
Journal of Human Genetics, April 2017
|
| DOI | 10.1038/jhg.2017.46 |
| Pubmed ID | |
| Authors |
Mayumi Sugiura-Ogasawara, Yosuke Omae, Minae Kawashima, Licht Toyo-Oka, Seik-Soon Khor, Hiromi Sawai, Tetsuya Horita, Tatsuya Atsumi, Atsuko Murashima, Daisuke Fujita, Tomio Fujita, Shinji Morimoto, Eriko Morishita, Shinji Katsuragi, Tamao Kitaori, Kinue Katano, Yasuhiko Ozaki, Katsushi Tokunaga |
| Abstract |
Antiphospholipid syndrome (APS) is the most important treatable cause of recurrent pregnancy loss. The live birth rate is limited to only 70-80% in patients with APS undergoing established anticoagulant therapy. Lupus anticoagulant (LA), but not anticardiolipin antibody (aCL), was found to predict adverse pregnancy outcome. Recent genome-wide association studies (GWAS) of APS focusing on aCL have shown that several molecules may be involved. This is the first GWAS for obstetric APS focusing on LA. A GWAS was performed to compare 115 Japanese patients with obstetric APS, diagnosed according to criteria of the International Congress on APS, and 419 healthy individuals. Allele or genotype frequencies were compared in a total of 426 344 single-nucleotide polymorphisms (SNPs). Imputation analyses were also performed for the candidate regions detected by the GWAS. One SNP (rs2288493) located on the 3'-UTR of TSHR showed an experiment-wide significant APS association (P=7.85E-08, OR=6.18) under a recessive model after Bonferroni correction considering the number of analyzed SNPs. Another SNP (rs79154414) located around the C1D showed a genome-wide significant APS association (P=4.84E-08, OR=6.20) under an allelic model after applying the SNP imputation. Our findings demonstrate that a specific genotype of TSHR and C1D genes can be a risk factor for obstetric APS.Journal of Human Genetics advance online publication, 20 April 2017; doi:10.1038/jhg.2017.46. |
X Demographics
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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 % |
|---|---|---|
| Bosnia and Herzegovina | 1 | 2% |
| Unknown | 45 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 6 | 13% |
| Researcher | 4 | 9% |
| Student > Postgraduate | 4 | 9% |
| Student > Bachelor | 3 | 7% |
| Professor | 3 | 7% |
| Other | 9 | 20% |
| Unknown | 17 | 37% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 14 | 30% |
| Biochemistry, Genetics and Molecular Biology | 4 | 9% |
| Agricultural and Biological Sciences | 4 | 9% |
| Immunology and Microbiology | 3 | 7% |
| Unspecified | 1 | 2% |
| Other | 2 | 4% |
| Unknown | 18 | 39% |
Attention Score in Context
This research output has an Altmetric Attention Score of 1. 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 21 April 2017.
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#20,414,746
of 22,965,074 outputs
Outputs from Journal of Human Genetics
#1,533
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#269,868
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Outputs of similar age from Journal of Human Genetics
#22
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