rs12310399 - FGD6
Magnitude 4.5 · 2 studies on file
Reported associations
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Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. - Cancer science (2014) · Low SK, Chung S, Takahashi A, Zembutsu H, Mushiroda T, Kubo M, Nakamura Y · PubMed 23648065
Chemotherapeutic agents are notoriously known to have a narrow therapeutic range that often results in life-threatening toxicity. Hence, it is clinically important to identify the patients who are at high risk for severe toxicity to certain chemotherapy through a pharmacogenomics approach. In this study, we carried out multiple genome-wide association studies (GWAS) of 13 122 cancer patients who received different chemotherapy regimens, including cyclophosphamide- and platinum-based (cisplatin and carboplatin), anthracycline-based (doxorubicin and epirubicin), and antimetabolite-based (5-fluorouracil and gemcitabine) treatment, antimicrotubule agents (paclitaxel and docetaxel), and topoisomerase inhibitors (camptothecin and etoposide), as well as combination therapy with paclitaxel and car
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Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors - Unknown journal (n.d.) · Unknown authors · PubMed 33199917
ABSTRACT: Rupture of an intracranial aneurysm leads to subarachnoid hemorrhage, a severe type of stroke. To discover new genetic loci and the genetic architecture of intracranial aneurysms, we performed a cross-ethnic, genome-wide association study in 10,754 cases and 306,882 controls of European and East Asian ancestry. We discovered 17 risk loci, 11 of which are new. We reveal a polygenic architecture and explain over half of the disease heritability. We show a high genetic correlation between ruptured and unruptured intracranial aneurysms. A suggestive role for endothelial cells is found using gene mapping and heritability enrichment. Drug target enrichment shows pleiotropy between intracranial aneurysms and anti-epileptic and sex hormone drugs, providing insights into intracranial aneu
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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paclitaxel/carboplatin sensitivity risk Moderate
rs12310399-A associates with increased severe neutropenia/leucopenia risk during paclitaxel+carboplatin chemotherapy
Inform oncologist of this variant before paclitaxel+carboplatin treatment
Screening
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intracranial aneurysm imaging screening Moderate
rs12310399-T associates with increased intracranial aneurysm risk in large population studies
Discuss with neurologist about screening timing and imaging modality options