التفاصيل البيبلوغرافية
| العنوان: |
A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica. |
| المؤلفون: |
Estrada, Karol, Whelan, Christopher W., Fengmei Zhao, Bronson, Paola, Handsaker, Robert E., Chao Sun, Carulli, John P., Harris, Tim, Ransohoff, Richard M., McCarroll, Steven A., Day-Williams, Aaron G., Greenberg, Benjamin M., MacArthur, Daniel G. |
| المصدر: |
Nature Communications; 5/16/2018, Vol. 9 Issue 1, p1-10, 10p |
| مصطلحات موضوعية: |
NEUROMYELITIS optica, SYSTEMIC lupus erythematosus, MAJOR histocompatibility complex, SPINAL nerves, OPTIC nerve, SPINAL cord, NATALIZUMAB |
| مستخلص: |
Neuromyelitis optica (NMO) is a rare autoimmune disease that affects the optic nerve and spinal cord. Most NMO patients ( > 70%) are seropositive for circulating autoantibodies against aquaporin 4 (NMO-IgG+). Here, we meta-analyze whole-genome sequences from 86 NMO cases and 460 controls with genome-wide SNP array from 129 NMO cases and 784 controls to test for association with SNPs and copy number variation (total N = 215 NMO cases, 1244 controls). We identify two independent signals in the major histocompatibility complex (MHC) region associated with NMO-IgG+, one of which may be explained by structural variation in the complement component 4 genes. Mendelian Randomization analysis reveals a significant causal effect of known systemic lupus erythematosus (SLE), but not multiple sclerosis (MS), risk variants in NMO-IgG+. Our results suggest that genetic variants in the MHC region contribute to the etiology of NMO-IgG+ and that NMO-IgG+ is genetically more similar to SLE than MS. [ABSTRACT FROM AUTHOR] |
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| قاعدة البيانات: |
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