دورية أكاديمية
Genome-wide association study of immunoglobulin light chain amyloidosis in three patient cohorts: comparison with myeloma.
| العنوان: | Genome-wide association study of immunoglobulin light chain amyloidosis in three patient cohorts: comparison with myeloma. |
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| المؤلفون: | da Silva Filho, MI, Försti, A, Weinhold, N, Meziane, I, Campo, C, Huhn, S, Nickel, J, Hoffmann, P, Nöthen, MM, Jöckel, K-H, Landi, S, Mitchell, JS, Johnson, D, Morgan, GJ, Houlston, R, Goldschmidt, H, Jauch, A, Milani, P, Merlini, G, Rowcieno, D, Hawkins, P, Hegenbart, U, Palladini, G, Wechalekar, A, Schönland, SO, Hemminki, K |
| المساهمون: | Johnson, David, Houlston, Richard |
| بيانات النشر: | NATURE PUBLISHING GROUP |
| سنة النشر: | 2017 |
| المجموعة: | The Institute of Cancer Research (ICR): Publications Repository |
| مصطلحات موضوعية: | Humans, Multiple Myeloma, Amyloidosis, Genetic Predisposition to Disease, Cyclin D1, Polymorphism, Single Nucleotide, Adult, Aged, 80 and over, Middle Aged, Female, Immunoglobulin Light Chains, Male, Genome-Wide Association Study |
| الوصف: | Immunoglobulin light chain (AL) amyloidosis is characterized by tissue deposition of amyloid fibers derived from immunoglobulin light chain. AL amyloidosis and multiple myeloma (MM) originate from monoclonal gammopathy of undetermined significance. We wanted to characterize germline susceptibility to AL amyloidosis using a genome-wide association study (GWAS) on 1229 AL amyloidosis patients from Germany, UK and Italy, and 7526 healthy local controls. For comparison with MM, recent GWAS data on 3790 cases were used. For AL amyloidosis, single nucleotide polymorphisms (SNPs) at 10 loci showed evidence of an association at P<10-5 with homogeneity of results from the 3 sample sets; some of these were previously documented to influence MM risk, including the SNP at the IRF4 binding site. In AL amyloidosis, rs9344 at the splice site of cyclin D1, promoting translocation (11;14), reached the highest significance, P=7.80 × 10-11; the SNP was only marginally significant in MM. SNP rs79419269 close to gene SMARCD3 involved in chromatin remodeling was also significant (P=5.2 × 10-8). These data provide evidence for common genetic susceptibility to AL amyloidosis and MM. Cyclin D1 is a more prominent driver in AL amyloidosis than in MM, but the links to aggregation of light chains need to be demonstrated. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | Print-Electronic; 1742; application/pdf |
| اللغة: | English |
| تدمد: | 0887-6924 1476-5551 |
| العلاقة: | Leukemia, 2017, 31 (8), pp. 1735 - 1742; https://repository.icr.ac.uk/handle/internal/469Test |
| DOI: | 10.1038/leu.2016.387 |
| الإتاحة: | https://doi.org/10.1038/leu.2016.387Test https://repository.icr.ac.uk/handle/internal/469Test |
| رقم الانضمام: | edsbas.69C0F223 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 08876924 14765551 |
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| DOI: | 10.1038/leu.2016.387 |