مؤتمر
Presentation_1_Genome-wide association study of hyperthyroidism based on electronic medical record from Taiwan.PPTX
| العنوان: | Presentation_1_Genome-wide association study of hyperthyroidism based on electronic medical record from Taiwan.PPTX |
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| المؤلفون: | Ting-Yuan Liu, Wen-Ling Liao, Tzu-Yuan Wang, Chia-Jung Chan, Jan-Gowth Chang, Yu-Chia Chen, Hsing-Fang Lu, Hsien-Hui Yang, Shih-Yin Chen, Fuu-Jen Tsai |
| سنة النشر: | 2022 |
| المجموعة: | Frontiers: Figshare |
| مصطلحات موضوعية: | Dermatology, Emergency Medicine, Gastroenterology and Hepatology, Geriatrics and Gerontology, Intensive Care, Medical Genetics (excl. Cancer Genetics), Nephrology and Urology, Nuclear Medicine, Orthopaedics, Otorhinolaryngology, Pathology (excl. Oral Pathology), Radiology and Organ Imaging, Foetal Development and Medicine, Obstetrics and Gynaecology, Family Care, Primary Health Care, Medical and Health Sciences not elsewhere classified, genome-wide association study (GWAS), phenome-wide association studies (PheWAS), hyperthyroidism, electronic medical record (EMR), stroke |
| الوصف: | Excess thyroid hormones have complex metabolic effects, particularly hyperthyroidism, and are associated with various cardiovascular risk factors. Previous candidate gene studies have indicated that genetic variants may contribute to this variable response. Electronic medical record (EMR) biobanks containing clinical and genomic data on large numbers of individuals have great potential to inform the disease comorbidity development. In this study, we combined electronic medical record (EMR) -derived phenotypes and genotype information to conduct a genome-wide analysis of hyperthyroidism in a 35,009-patient cohort in Taiwan. Diagnostic codes were used to identify 2,767 patients with hyperthyroidism. Our genome-wide association study (GWAS) identified 44 novel genomic risk markers in 10 loci on chromosomes 2, 6, and 14 (P < 5 × 10–14), including CTLA4, HCP5, HLA-B, POU5F1, CCHCR1, HLA-DRA, HLA-DRB9, TSHR, RPL17P3, and CEP128. We further conducted a comorbidity analysis of our results, and the data revealed a strong correlation between hyperthyroidism patients with thyroid storm and stroke. In this study, we demonstrated application of the PheWAS using large EMR biobanks to inform the comorbidity development in hyperthyroidism patients. Our data suggest significant common genetic risk factors in patients with hyperthyroidism. Additionally, our results show that sex, body mass index (BMI), and thyroid storm are associated with an increased risk of stroke in subjects with hyperthyroidism. |
| نوع الوثيقة: | conference object |
| اللغة: | unknown |
| العلاقة: | https://figshare.com/articles/presentation/Presentation_1_Genome-wide_association_study_of_hyperthyroidism_based_on_electronic_medical_record_from_Taiwan_PPTX/20380812Test |
| DOI: | 10.3389/fmed.2022.830621.s001 |
| الإتاحة: | https://doi.org/10.3389/fmed.2022.830621.s001Test https://figshare.com/articles/presentation/Presentation_1_Genome-wide_association_study_of_hyperthyroidism_based_on_electronic_medical_record_from_Taiwan_PPTX/20380812Test |
| حقوق: | CC BY 4.0 |
| رقم الانضمام: | edsbas.37D722CD |
| قاعدة البيانات: | BASE |
| DOI: | 10.3389/fmed.2022.830621.s001 |
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