ArticleJournal of human genetics2017
The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome.
Article in Journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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The trial behind it
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Who cites it
9 citing papers in PubMed, 27 citations in OpenAlex.
- Autoimmune diseases and cardiovascular risk: Mendelian randomization analysis for the impact of 19 autoimmune diseases on 14 cardiovascular conditions.Journal of translational autoimmunity · 2024Article
- The association of APOH and NCF1 polymorphisms on susceptibility to recurrent pregnancy loss in women with antiphospholipid syndrome.Journal of assisted reproduction and genetics · 2023Article
- High-throughput sequencing technology facilitates the discovery of novel biomarkers for antiphospholipid syndrome.Frontiers in immunology · 2023Review
- Predictors Associated with Adverse Pregnancy Outcomes in a Cohort of Women with Systematic Lupus Erythematosus from Romania-An Observational Study (Stage 2).Journal of clinical medicine · 2022Article
- Risk of pre-eclampsia in patients with a maternal genetic predisposition to common medical conditions: a case-control study.BJOG : an international journal of obstetrics and gynaecology · 2021Article
- Mendelian randomization while jointly modeling cis genetics identifies causal relationships between gene expression and lipids.Nature communications · 2020Article
- Genetics of Antiphospholipid Syndrome.Current rheumatology reports · 2019Review
- Antiphospholipid antibody profile-based outcome of purely vascular and purely obstetric antiphospholipid syndrome.Journal of thrombosis and thrombolysis · 2018Article
- Moving towards a molecular taxonomy of autoimmune rheumatic diseases.Nature reviews. Rheumatology · 2018Review
Corrections and comments
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Authors and funding
18 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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