Genetic analysis for type 1 diabetes genes in juvenile dermatomyositis unveils genetic disease overlap
| العنوان: | Genetic analysis for type 1 diabetes genes in juvenile dermatomyositis unveils genetic disease overlap |
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| المؤلفون: | Hui-Qi Qu, Jingchun Qu, Courtney Vaccaro, Xiao Chang, Frank Mentch, Jin Li, Fernanda Mafra, Kenny Nguyen, Michael Gonzalez, Michael March, Renata Pellegrino, Joseph Glessner, Patrick Sleiman, Charlly Kao, Hakon Hakonarson |
| المصدر: | Rheumatology. 61:3497-3501 |
| بيانات النشر: | Oxford University Press (OUP), 2022. |
| سنة النشر: | 2022 |
| مصطلحات موضوعية: | Diabetes Mellitus, Type 1, Rheumatology, Humans, Genetic Predisposition to Disease, Pharmacology (medical), Genetic Testing, Dermatomyositis, Autoimmune Diseases |
| الوصف: | Objectives JDM is a serious autoimmune and complex genetic disease. Another autoimmune genetic disease, type 1 diabetes (T1D), has been observed for significantly increased prevalence in families with JDM, while increased JDM risk has also been observed in T1D cases. This study aimed to study whether these two autoimmune diseases, JDM and T1D, share common genetic susceptibility. Methods From 169 JDM families, 121 unrelated cases with European ancestry (EA) were identified by genome-wide genotyping, principal component analysis and identical-by-descent (IBD) analysis. T1D genetic risk score (GRS) were calculated in these cases and were compared with 361 EA T1D cases and 1943 non-diabetes EA controls. A total of 113 cases of the 121 unrelated European cases were sequenced by whole exome sequencing. Results We observed increased T1D GRS in JDM cases (P = 9.42E-05). Using whole exome sequencing, we uncovered the T1D genes, phospholipase B1, cystic fibrosis transmembrane conductance regulator, tyrosine hydroxylase, CD6 molecule, perforin 1 and dynein axonemal heavy chain 2, potentially associated with JDM by the burden test of rare functional coding variants. Conclusion Novel mechanisms of JDM related to these T1D genes are suggested by this study, which may imply novel therapeutic targets for JDM and warrant further study. |
| تدمد: | 1462-0332 1462-0324 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fd7aa94e1b9cb31bab7b924b70cb381Test https://doi.org/10.1093/rheumatology/keac100Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....3fd7aa94e1b9cb31bab7b924b70cb381 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14620332 14620324 |
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