دورية أكاديمية
The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis
| العنوان: | The genetic architecture of membranous nephropathy and its potential to improve non-invasive diagnosis |
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| المؤلفون: | Xie J., Liu L., Mladkova N., Li Y., Ren H., Wang W., Cui Z., Lin L., Hu X., Yu X., Xu J., Liu G., Caliskan Y., Sidore C., Balderes O., Rosen R. J., Bodria M., Zanoni F., Zhang J. Y., Krithivasan P., Mehl K., Marasa M., Khan A., Ozay F., Canetta P. A., Bomback A. S., Appel G. B., Sanna-Cherchi S., Sampson M. G., Mariani L. H., Perkowska-Ptasinska A., Durlik M., Mucha K., Moszczuk B., Foroncewicz B., Paczek L., Habura I., Ars E., Ballarin J., Mani L. -Y., Vogt B., Ozturk S., Yildiz A., Seyahi N., Arikan H., Koc M., Basturk T., Karahan G., Akgul S. U., Sever M. S., Zhang D., Santoro D., Bonomini M., Londrino F., Gesualdo L., Reiterova J., Tesar V., Izzi C., Savoldi S., Spotti D., Marcantoni C., Messa P., Galliani M., Roccatello D., Granata S., Zaza G., Lugani F., Ghiggeri G. M., Pisani I., Allegri L., Sprangers B., Park J. -H., Cho B. L., Kim Y. S., Kim D. K., Suzuki H., Amoroso A., Cattran D. C., Fervenza F. C., Pani A., Hamilton P., Harris S., Gupta S., Cheshire C., Dufek S., Issler N., Pepper R. J., Connolly J., Powis S., Bockenhauer D., Stanescu H. C., Ashman N., Loos R. J. F., Kenny E. E., Wuttke M., Eckardt K. -U., Kottgen A., Hofstra J. M., Coenen M. J. H., Kiemeney L. A., Akilesh S., Kretzler M., Beck L. H., Stengel B., Debiec H., Ronco P., Wetzels J. F. M., Zoledziewska M., Cucca F., Ionita-Laza I., Lee H., Hoxha E., Stahl R. A. K., Brenchley P., Scolari F., Zhao M. -H., Gharavi A. G., Kleta R., Chen N., Kiryluk K. |
| المساهمون: | Xie, J., Liu, L., Mladkova, N., Li, Y., Ren, H., Wang, W., Cui, Z., Lin, L., Hu, X., Yu, X., Xu, J., Liu, G., Caliskan, Y., Sidore, C., Balderes, O., Rosen, R. J., Bodria, M., Zanoni, F., Zhang, J. Y., Krithivasan, P., Mehl, K., Marasa, M., Khan, A., Ozay, F., Canetta, P. A., Bomback, A. S., Appel, G. B., Sanna-Cherchi, S., Sampson, M. G., Mariani, L. H., Perkowska-Ptasinska, A., Durlik, M., Mucha, K., Moszczuk, B., Foroncewicz, B., Paczek, L., Habura, I., Ars, E., Ballarin, J., Mani, L. -Y., Vogt, B., Ozturk, S., Yildiz, A., Seyahi, N., Arikan, H., Koc, M., Basturk, T., Karahan, G., Akgul, S. U., Sever, M. S., Zhang, D., Santoro, D., Bonomini, M., Londrino, F., Gesualdo, L., Reiterova, J., Tesar, V., Izzi, C., Savoldi, S., Spotti, D., Marcantoni, C., Messa, P., Galliani, M., Roccatello, D., Granata, S., Zaza, G., Lugani, F., Ghiggeri, G. M., Pisani, I., Allegri, L., Sprangers, B., Park, J. -H., Cho, B. L., Kim, Y. S., Kim, D. K., Suzuki, H., Amoroso, A., Cattran, D. C., Fervenza, F. C., Pani, A., Hamilton, P., Harris, S., Gupta, S., Cheshire, C., Dufek, S., Issler, N., Pepper, R. J., Connolly, J., Powis, S., Bockenhauer, D., Stanescu, H. C., Ashman, N., Loos, R. J. F., Kenny, E. E., Wuttke, M., Eckardt, K. -U., Kottgen, A., Hofstra, J. M., Coenen, M. J. H., Kiemeney, L. A. |
| سنة النشر: | 2020 |
| المجموعة: | Università degli Studi di Brescia: OPENBS - Open Archive UniBS |
| مصطلحات موضوعية: | Allele, Amino Acid Sequence, Asian Continental Ancestry Group, Case-Control Studie, European Continental Ancestry Group, Glomerulonephritis, Membranou, Human, Interferon Regulatory Factor, Models, Molecular, NF-kappa B p50 Subunit, Polymorphism, Single Nucleotide, Receptors, Phospholipase A2, Genome-Wide Association Study |
| الوصف: | Membranous Nephropathy (MN) is a rare autoimmune cause of kidney failure. Here we report a genome-wide association study (GWAS) for primary MN in 3,782 cases and 9,038 controls of East Asian and European ancestries. We discover two previously unreported loci, NFKB1 (rs230540, OR = 1.25, P = 3.4 × 10−12) and IRF4 (rs9405192, OR = 1.29, P = 1.4 × 10−14), fine-map the PLA2R1 locus (rs17831251, OR = 2.25, P = 4.7 × 10−103) and report ancestry-specific effects of three classical HLA alleles: DRB1*1501 in East Asians (OR = 3.81, P = 2.0 × 10−49), DQA1*0501 in Europeans (OR = 2.88, P = 5.7 × 10−93), and DRB1*0301 in both ethnicities (OR = 3.50, P = 9.2 × 10−23 and OR = 3.39, P = 5.2 × 10−82, respectively). GWAS loci explain 32% of disease risk in East Asians and 25% in Europeans, and correctly re-classify 20–37% of the cases in validation cohorts that are antibody-negative by the serum anti-PLA2R ELISA diagnostic test. Our findings highlight an unusual genetic architecture of MN, with four loci and their interactions accounting for nearly one-third of the disease risk. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | ELETTRONICO |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/32231244; info:eu-repo/semantics/altIdentifier/wos/WOS:000563559600001; volume:11; issue:1; firstpage:1600; lastpage:1610; numberofpages:11; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11379/537016Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85082558400 |
| DOI: | 10.1038/s41467-020-15383-w |
| الإتاحة: | https://doi.org/10.1038/s41467-020-15383-wTest http://hdl.handle.net/11379/537016Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.1A02478F |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/s41467-020-15383-w |
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