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 RJ, Bodria M, Zanoni F, Zhang JY, Krithivasan P, Mehl K, Marasa M, Khan A, Ozay F, Canetta PA, Bomback AS, Appel GB, Sanna-Cherchi S, Sampson MG, Mariani LH, Perkowska-Ptasinska A, Durlik M, Mucha K, Moszczuk B, Foroncewicz B, Pączek L, Habura I, Ars E, Ballarin J, Mani LY, Vogt B, Ozturk S, Yildiz A, Seyahi N, Arikan H, Koc M, Basturk T, Karahan G, Akgul SU, Sever MS, 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, Pisani I, Allegri L, Sprangers B, Park JH, Cho B, Kim YS, Kim DK, Suzuki H, Amoroso A, Cattran DC, Fervenza FC, Pani A, Hamilton P, Harris S, Gupta S, Cheshire C, Dufek S, Issler N, Pepper RJ, Connolly J, Powis S, Bockenhauer D, Stanescu HC, Ashman N, Loos RJF, Kenny EE, Wuttke M, Eckardt KU, Köttgen A, Hofstra JM, Coenen MJH, Kiemeney LA, Akilesh S, Kretzler M, Beck LH, Stengel B, Debiec H, Ronco P, Wetzels JFM, Zoledziewska M, Cucca F, Ionita-Laza I, Lee H, Hoxha E, Stahl RAK, Brenchley P, Scolari F, Zhao MH, Gharavi AG, 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, Rj, Bodria, M, Zanoni, F, Zhang, Jy, Krithivasan, P, Mehl, K, Marasa, M, Khan, A, Ozay, F, Canetta, Pa, Bomback, A, Appel, Gb, Sanna-Cherchi, S, Sampson, Mg, Mariani, Lh, Perkowska-Ptasinska, A, Durlik, M, Mucha, K, Moszczuk, B, Foroncewicz, B, Pączek, L, Habura, I, Ars, E, Ballarin, J, Mani, Ly, Vogt, B, Ozturk, S, Yildiz, A, Seyahi, N, Arikan, H, Koc, M, Basturk, T, Karahan, G, Akgul, Su, Sever, M, 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, Pisani, I, Allegri, L, Sprangers, B, Park, Jh, Cho, B, Kim, Y, Kim, Dk, Suzuki, H, Amoroso, A, Cattran, Dc, Fervenza, Fc, Pani, A, Hamilton, P, Harris, S, Gupta, S, Cheshire, C, Dufek, S, Issler, N, Pepper, Rj, Connolly, J, Powis, S, Bockenhauer, D, Stanescu, Hc, Ashman, N, Loos, Rjf, Kenny, Ee, Wuttke, M, Eckardt, Ku, Köttgen, A, Hofstra, Jm, Coenen, Mjh, Kiemeney, La |
| سنة النشر: | 2020 |
| المجموعة: | Università degli Studi di Foggia: CINECA IRIS Institutional Research Information System |
| مصطلحات موضوعية: | Membranous Nephropathy, genome-wide association study (GWAS), diagnosis |
| 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:1; lastpage:18; numberofpages:18; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11369/411312Test; 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/11369/411312Test |
| رقم الانضمام: | edsbas.5F7B8A6 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1038/s41467-020-15383-w |
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