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Cited by 278

The DOI matches its Crossref record; 60 of the 60 references it cites were found in a registry or an index.

New Susceptibility Loci Associated with Kidney Disease in Type 1 Diabetes

Open access
Sandholm, Niina, Salem, Rany M., McKnight, Amy Jayne, Brennan, Eoin P., Forsblom, Carol, Isakova, Tamara, McKay, Gareth J., Williams, Winfred W., Sadlier, Denise M., Mäkinen, Ville-Petteri, Swan, Elizabeth J., Palmer, Cameron, Boright, Andrew P., Ahlqvist, Emma, Deshmukh, Harshal A., Keller, Benjamin J., Huang, Huateng, Ahola, Aila J., Fagerholm, Emma, Gordin, Daniel, Harjutsalo, Valma, He, Bing, Heikkilä, Outi, Hietala, Kustaa, Kytö, Janne, Lahermo, Päivi, Lehto, Markku, Lithovius, Raija, Österholm, Anne-May, Parkkonen, Maija, Pitkäniemi, Janne, Rosengård-Bärlund, Milla, Saraheimo, Markku, Sarti, Cinzia, Söderlund, Jenny, Soro-Paavonen, Aino, Syreeni, Anna, Thorn, Lena M., Tikkanen, Heikki, Tolonen, Nina, Tryggvason, Karl, Tuomilehto, Jaakko, Wadén, Johan, Gill, Geoffrey V., Prior, Sarah, Guiducci, Candace, Mirel, Daniel B., Taylor, Andrew, Hosseini, S. Mohsen, DCCT/EDIC Research Group, Parving, Hans-Henrik, Rossing, Peter, Tarnow, Lise, Ladenvall, Claes, Alhenc-Gelas, François, Lefebvre, Pierre, Rigalleau, Vincent, Roussel, Ronan, Tregouet, David-Alexandre, Maestroni, Anna, Maestroni, Silvia, Falhammar, Henrik, Gu, Tianwei, Möllsten, Anna, Cimponeriu, Danut, Ioana, Mihai, Mota, Maria, Mota, Eugen, Serafinceanu, Cristian, Stavarachi, Monica, Hanson, Robert L., Nelson, Robert G., Kretzler, Matthias, Colhoun, Helen M., Panduru, Nicolae Mircea, Gu, Harvest F., Brismar, Kerstin, Zerbini, Gianpaolo, Hadjadj, Samy, Marre, Michel, Groop, Leif, Lajer, Maria, Bull, Shelley B., Waggott, Daryl, Paterson, Andrew D., Savage, David A., Bain, Stephen C., Martin, Finian, Hirschhorn, Joel N., Godson, Catherine, Florez, Jose C., Groop, Per-Henrik, Maxwell, Alexander P.·2012·PLoS Genetics
DOI 10.1371/journal.pgen.1002921
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Abstract

Diabetic kidney disease, or diabetic nephropathy (DN), is a major complication of diabetes and the leading cause of end-stage renal disease (ESRD) that requires dialysis treatment or kidney transplantation. In addition to the decrease in the quality of life, DN accounts for a large proportion of the excess mortality associated with type 1 diabetes (T1D). Whereas the degree of glycemia plays a pivotal role in DN, a subset of individuals with poorly controlled T1D do not develop DN. Furthermore, strong familial aggregation supports genetic susceptibility to DN. However, the genes and the molecular mechanisms behind the disease remain poorly understood, and current therapeutic strategies rarely result in reversal of DN. In the GEnetics of Nephropathy: an International Effort (GENIE) consortium, we have undertaken a meta-analysis of genome-wide association studies (GWAS) of T1D DN comprising ~2.4 million single nucleotide polymorphisms (SNPs) imputed in 6,691 individuals. After additional genotyping of 41 top ranked SNPs representing 24 independent signals in 5,873 individuals, combined meta-analysis revealed association of two SNPs with ESRD: rs7583877 in the AFF3 gene (P = 1.2 × 10(-8)) and an intergenic SNP on chromosome 15q26 between the genes RGMA and MCTP2, rs12437854 (P = 2.0 × 10(-9)). Functional data suggest that AFF3 influences renal tubule fibrosis via the transforming growth factor-beta (TGF-β1) pathway. The strongest association with DN as a primary phenotype was seen for an intronic SNP in the ERBB4 gene (rs7588550, P = 2.1 × 10(-7)), a gene with type 2 diabetes DN differential expression and in the same intron as a variant with cis-eQTL expression of ERBB4. All these detected associations represent new signals in the pathogenesis of DN.

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Authors
Sandholm, N., Salem, R. M., McKnight, A. J., Brennan, E. P., Forsblom, C., Isakova, T., McKay, G. J., Williams, W. W., Sadlier, D. M., Mäkinen, V.-P., Swan, E. J., Palmer, C., Boright, A. P., Ahlqvist, E., Deshmukh, H. A., Keller, B. J., Huang, H., Ahola, A. J., Fagerholm, E., Gordin, D., Harjutsalo, V., He, B., Heikkilä, O., Hietala, K., Kytö, J., Lahermo, P., Lehto, M., Lithovius, R., Österholm, A.-M., Parkkonen, M., Pitkäniemi, J., Rosengård-Bärlund, M., Saraheimo, M., Sarti, C., Söderlund, J., Soro-Paavonen, A., Syreeni, A., Thorn, L. M., Tikkanen, H., Tolonen, N., Tryggvason, K., Tuomilehto, J., Wadén, J., Gill, G. V., Prior, S., Guiducci, C., Mirel, D. B., Taylor, A., Hosseini, S. M., DCCT/EDIC Research Group, Parving, H.-H., Rossing, P., Tarnow, L., Ladenvall, C., Alhenc-Gelas, F., Lefebvre, P., Rigalleau, V., Roussel, R., Tregouet, D.-A., Maestroni, A., Maestroni, S., Falhammar, H., Gu, T., Möllsten, A., Cimponeriu, D., Ioana, M., Mota, M., Mota, E., Serafinceanu, C., Stavarachi, M., Hanson, R. L., Nelson, R. G., Kretzler, M., Colhoun, H. M., Panduru, N. M., Gu, H. F., Brismar, K., Zerbini, G., Hadjadj, S., Marre, M., Groop, L., Lajer, M., Bull, S. B., Waggott, D., Paterson, A. D., Savage, D. A., Bain, S. C., Martin, F., Hirschhorn, J. N., Godson, C., Florez, J. C., Groop, P.-H., & Maxwell, A. P.
Venue
PLoS Genetics
Publisher
Public Library of Science (PLoS)
Published
2012-09-20
Volume
8
Issue
9
Pages
e1002921
ISSN
  • 1553-7390 (ISSN-L)
  • 1553-7404
DOI
10.1371/journal.pgen.1002921
OpenAlex
W2036632755
Cited by
278
References
60
FWCI
24.61
Type
journal article
Language
en
Open access
gold

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CoChat. (2026). Citation check: New Susceptibility Loci Associated with Kidney Disease in Type 1 Diabetes. https://app.cochat.ai/papers/10.1371/journal.pgen.1002921
The paper
Sandholm, N., Salem, R. M., McKnight, A. J., Brennan, E. P., Forsblom, C., Isakova, T., McKay, G. J., Williams, W. W., Sadlier, D. M., Mäkinen, V.-P., Swan, E. J., Palmer, C., Boright, A. P., Ahlqvist, E., Deshmukh, H. A., Keller, B. J., Huang, H., Ahola, A. J., Fagerholm, E., . . . Maxwell, A. P. (2012). New Susceptibility Loci Associated with Kidney Disease in Type 1 Diabetes. PLoS Genetics. https://doi.org/10.1371/journal.pgen.1002921

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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.