Common Apolipoprotein E Gene Mutations Contribute to Lipoprotein Glomerulopathy in China
Abstract
Background: Lipoprotein glomerulopathy (LPG) is a unique disease characterized by thrombus-like lipoprotein deposition in glomeruli and an increased serum apolipoprotein E level (ApoE protein or APOE gene). Several APOE mutations contribute to the occurring of LPG. Methods: We confirmed LPG in 7 individuals by renal biopsy, and investigated families of 2 patients with urinalysis, serum creatinine and serum lipid examination. Exons of APOE of all individuals as well as their relatives were amplified and sequenced directly. Results: Two types of APOE mutations were identified in the 7 patients and their relatives. APOE Maebashi (Arg142-Leu144→0) heterozygotes were found in 5 individuals who were from 4 different families. APOE Kyoto (Arg25-Cys) was confirmed heterogeneous in another 2 individuals. Both mutations present incomplete penetrance. Conclusion: Our research indicates that APOE Maebashi (Arg142-Leu144→0) is a common mutation in Chinese LPG. However, not all carriers of the 2 mutations have LPG, although hyperlipidemia and high serum ApoE level are tested. There are likely other reasons, such as a local mechanism in the glomeruli, which participated in the renal injury.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
LPG-related mutations found in China include APOE-Kyoto, APOE-Tokyo/Maebashi, APOE-Guangzhou, and APOE-Chengdu.
“LPG‐related mutations found in China include APOE‐Kyoto, APOE‐Tokyo/Maebashi, APOE‐Guangzhou, and APOE‐Chengdu (Han et al., 2010; Wu, Yang, & Hu, 2018).”
From Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by <i>APOE</i> mutations (2020) · cites this paper as Han et al., 2010
Cites
Lalazar, A., Weisgraber, K. H., Rall, S. C., Giladi, H., Innerarity, T. L., Levanon, A. Z., Boyles, J. K., Amit, B., Gorecki, M., & Mahley, R. W. (1988) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)68957-4 · Cited by 209 · see citing works
Genetic heterogeneity of apolipoprotein E and its influence on plasma lipid and lipoprotein levels
de Knijff, P., van den Maagdenberg, A. M. J. M., Frants, R. R., & Havekes, L. M. (1994) · Human Mutation · doi:10.1002/humu.1380040303 · Cited by 136 · see citing works
Oikawa, S., Matsunaga, A., Saito, T., Sato, H., Seki, T., Hoshi, K., Hayasaka, K., Kotake, H., Midorikawa, H., Sekikawa, A., et al. (1997) · Journal of the American Society of Nephrology · doi:10.1681/asn.v85820 · Cited by 103 · see citing works
Impact of Lipoprotein Glomerulopathy on the Relationship Between Lipids and Renal Diseases
Saito, T., Matsunaga, A., & Oikawa, S. (2006) · American Journal of Kidney Diseases · doi:10.1053/j.ajkd.2005.10.017 · Cited by 96 · see citing works
A novel apolipoprotein E mutation, E2 (Arg25Cys), in lipoprotein glomerulopathy
Matsunaga, A., Sasaki, J., Komatsu, T., Kanatsu, K., Tsuji, E., Moriyama, K., Koga, T., Arakawa, K., Oikawa, S., Saito, T., et al. (1999) · Kidney International · doi:10.1046/j.1523-1755.1999.00572.x · Cited by 91 · see citing works
Blasiole, D. A., Oler, A. T., & Attie, A. D. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m710457200 · Cited by 65 · see citing works
Abnormal Lipoprotein and Apolipoprotein Pattern in Lipoprotein Glomerulopathy
Oikawa, S., Suzuki, N., Sakuma, E., Saito, T., Namai, K., Kotake, H., Fujii, Y., & Toyota, T. (1991) · American Journal of Kidney Diseases · doi:10.1016/s0272-6386(12)80649-4 · Cited by 60 · see citing works
Ishigaki, Y., Oikawa, S., Suzuki, T., Usui, S., Magoori, K., Kim, D.-H., Suzuki, H., Sasaki, J., Sasano, H., Okazaki, M., et al. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m005906200 · Cited by 58 · see citing works
Konishi, K., Saruta, T., Kuramochi, S., Oikawa, S., Saito, T., Han, H., Matsunaga, A., & Sasaki, J. (1999) · Nephron · doi:10.1159/000045513 · Cited by 54 · see citing works
A novel 18-amino acid deletion in apolipoprotein E associated with lipoprotein glomerulopathy
Ando, M., Sasaki, J., Hua, H., Matsunaga, A., Uchida, K., Jou, K., Oikawa, S., Saito, T., & Nihei, H. (1999) · Kidney International · doi:10.1046/j.1523-1755.1999.00677.x · Cited by 53 · see citing works
Resolution of typical lipoprotein glomerulopathy by intensive lipid-lowering therapy
Ieiri, N., Hotta, O., & Taguma, Y. (2003) · American Journal of Kidney Diseases · doi:10.1053/ajkd.2003.50016 · Cited by 50 · see citing works
HOFFMANN, M. M., SCHARNAGL, H., PANAGIOTOU, E., BANGHARD, W. T., WIELAND, H., & MA[Combining Diaeresis]RZ, W. (2001) · Journal of the American Society of Nephrology · doi:10.1681/asn.v123524 · Cited by 42 · see citing works
A novel variant apolipoprotein E Okayama in a patient with lipoprotein glomerulopathy
Kinomura, M., Sugiyama, H., Saito, T., Matsunaga, A., Sada, K.-E., Kanzaki, M., Takazawa, Y., Maeshima, Y., Yanai, H., & Makino, H. (2007) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/gfm675 · Cited by 40 · see citing works
A new variant of apolipoprotein E (apo E Maebashi) in lipoprotein glomerulopathy
Ogawa, T., Maruyama, K., Hattori, H., Arai, H., Kondoh, I., Egashira, T., Watanabe, T., Kobayashi, Y., & Morikawa, A. (2000) · Pediatric Nephrology · doi:10.1007/s004670050032 · Cited by 37 · see citing works
Luo, B., Huang, F., Liu, Q., Li, X., Chen, W., Zhou, S.-F., & Yu, X. (2008) · American Journal of Nephrology · doi:10.1159/000111828 · Cited by 36 · see citing works
Self-citation<i>APOE</i>Kyoto Mutation in European Americans with Lipoprotein Glomerulopathy
Rovin, B. H., Roncone, D., McKinley, A., Nadasdy, T., Korbet, S. M., & Schwartz, M. M. (2007) · New England Journal of Medicine · doi:10.1056/nejmc072088 · Cited by 35 · see citing works
Matsunaga, A., Furuyama, M., Hashimoto, T., Toyoda, K., Ogino, D., & Hayasaka, K. (2009) · Clinical and Experimental Nephrology · doi:10.1007/s10157-009-0207-1 · Cited by 28 · see citing works
Murano, T., Matsumura, R., Misawa, Y., Ozaki, H., Miyashita, Y., Yoshida, S., Sueioshi, M., Sugiyama, T., & Shirai, K. (2002) · Metabolism · doi:10.1053/meta.2002.29990 · Cited by 27 · see citing works
A novel apolipoprotein E mutation, ApoE Tsukuba (Arg 114 Cys), in lipoprotein glomerulopathy
Hagiwara, M., Yamagata, K., Matsunaga, T., Arakawa, Y., Usui, J., Shimizu, Y., Aita, K., Nagata, M., Koyama, A., Zhang, B., et al. (2007) · Nephrology Dialysis Transplantation · doi:10.1093/ndt/gfm735 · Cited by 27 · see citing works
Lipoprotein glomerulopathy: a pediatric case report
Maruyama, K., Arai, H., Ogawa, T., Tomizawa, S., & Morikawa, A. (1997) · Pediatric Nephrology · doi:10.1007/s004670050264 · Cited by 23 · see citing works
(2009) · PubMed · Cited by 20 · see citing works
Chen, S., Liu, Z.-H., Zheng, J.-M., Zhang, X., & Li, L.-S. (2007) · Journal of Nephrology · doi:10.1093/joneph/20.5.568 · Cited by 16 · see citing works
Clinicopathological and genetic characteristics in Chinese patients with lipoprotein glomerulopathy
Zhang, B., Liu, Z.-H., Zeng, C.-H., Zheng, J.-M., Chen, H.-P., & Li, L.-S. (2008) · Journal of Nephrology · doi:10.1093/joneph/21.1.110 · Cited by 12 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Hu, Z., Huang, S., Wu, Y., Liu, Y., Liu, X., Su, D., Tao, Y., Fu, P., Zhang, X., Peng, Z., et al. (2014) · Kidney International · doi:10.1038/ki.2013.335 · Cited by 60 · see citing works
Tsimihodimos, V., & Elisaf, M. (2011) · Current Opinion in Lipidology · doi:10.1097/mol.0b013e328345ebb0 · Cited by 33 · see citing works
An Updated Review and Meta Analysis of Lipoprotein Glomerulopathy
Li, M.-S., Li, Y., Liu, Y., Zhou, X.-J., & Zhang, H. (2022) · Frontiers in Medicine · doi:10.3389/fmed.2022.905007 · Cited by 25 · see citing works
Self-citationA founder haplotype of APOE-Sendai mutation associated with lipoprotein glomerulopathy
Toyota, K., Hashimoto, T., Ogino, D., Matsunaga, A., Ito, M., Masakane, I., Degawa, N., Sato, H., Shirai, S., Umetsu, K., et al. (2013) · Journal of Human Genetics · doi:10.1038/jhg.2013.8 · Cited by 19 · see citing works
Signaling pathways of apoE and its role of gene expression in glomerulus diseases
Zhou, T.-B. (2013) · Journal of Receptors and Signal Transduction · doi:10.3109/10799893.2013.765466 · Cited by 19 · see citing works
Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by <i>APOE</i> mutations
Yang, M., Weng, Q., Pan, X., Hussain, H. M. J., Yu, S., Xu, J., Yu, X., Liu, Y., Jin, Y., Zhang, C., et al. (2020) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.1281 · Cited by 15 · see citing works
Self-citationLipoprotein Glomerulopathy, First Case Report from Canada
Ting, J. A., McRae, S. A., Schwartz, D., Barbour, S. J., & Riazy, M. (2022) · International Journal of Nephrology and Renovascular Disease · doi:10.2147/ijnrd.s364890 · Cited by 7 · see citing works
Qin, Y., Sun, X.-J., Hu, Y.-F., Jing, M., Yu, X.-J., Zhao, M.-H., & Tan, Y. (2024) · Renal Failure · doi:10.1080/0886022x.2024.2332491 · Cited by 7 · see citing works
Macrophage Infiltration into the Glomeruli in Lipoprotein Glomerulopathy
Takasaki, S., Maeda, K., Joh, K., Yamakage, S., Fukase, S., Takahashi, T., Suzuki, M., Matsunaga, A., & Saito, T. (2015) · Case Reports in Nephrology and Dialysis · doi:10.1159/000441715 · Cited by 7 · see citing works
Cheung, C. Y., Chan, A. O. K., Chan, G. P. T., Iu, H. Y. P., Shek, C. C., & Chau, K. (2014) · Clinical Kidney Journal · doi:10.1093/ckj/sfu058 · Cited by 6 · see citing works
Lipoprotein glomerulopathy in China
Chen, Y. (2013) · Clinical and Experimental Nephrology · doi:10.1007/s10157-013-0873-x · Cited by 2 · see citing works
Self-citation4. Lipid Metabolism Abnormalities.
Saito, T., Ogahara, S., Ito, K., & Matsunaga, A. (2011) · Nihon Naika Gakkai Zasshi · doi:10.2169/naika.100.1220
APOE Lipoprotein Glomerulopathy
(2016) · Elsevier eBooks · doi:10.1016/b978-0-323-37707-2.50086-0
- Authors
- Han, J., Pan, Y., Chen, Y., Li, X., Xing, G., Shi, J., Hou, P., Zhang, H., & Wang, H.
- Affiliations
- Peking University (CN)
- Peking University First Hospital (CN)
- Dongzhimen Hospital Affiliated to Beijing University of Chinese Medicine (CN)
- Fifth Tianjin Central Hospital (CN)
- Venue
- Nephron Clinical Practice
- Publisher
- S. Karger AG
- Published
- 2010-01-20
- Volume
- 114
- Issue
- 4
- Pages
- c260-c267
- ISSN
- 1660-2110 (ISSN-L)
- OpenAlex
- W2024626536
- Cited by
- 13
- References
- 23
- Citations by year
- 2024: 1 · 2022: 2 · 2020: 1 · 2016: 1 · 2015: 1 · 2014: 1 · 2013: 4
- FWCI
- 1.50
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Nephron Clinical Practice (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Nephrology › Renal Diseases and Glomerulopathies
- Health Sciences › Medicine › Nephrology › Chronic Kidney Disease and Diabetes
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Keywords
- lipoprotein glomerulopathy, apolipoprotein E, incomplete penetrance, hyperlipidemia, familial renal disease, Chinese patients
- MeSH terms
- Adult, Apolipoproteins E, China, Female, Glomerulonephritis, Genetic Carrier Screening, Humans, Kidney Glomerulus, Lipoproteins, Male, Middle Aged, Mutation, Pedigree, Asian People
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
