Identification of Apolipoprotein E Guangzhou (Arginine 150 Proline), a New Variant Associated with Lipoprotein Glomerulopathy
Open accessAbstract
Background/Aims: Lipoprotein glomerulopathy (LPG) is a rare disease characterized by thrombus-like substances in markedly dilated glomerular capillaries and elevated plasma levels of apolipoprotein E (apoE). Previous studies have shown that genetic disorders of apoE may contribute to the pathogenesis of LPG, but LPG may not be caused by apoE gene mutations in Chinese patients. This study investigated the association of a new variant of apoE with LPG in a Chinese family. Methods: The apoE gene in a family with 4 LPG patients was sequenced. The polymerase chain reaction product of coding region of apoE exon 4 was cloned into pMD 18-T vector and then sequenced. Results: A novel point mutation in exon 4 of the apoE gene was identified in all 4 LPG patients and 1 asymptomatic family member. Sequence analysis confirmed a nucleotide G to C point mutation in exon 4 (base 308) of the apoE gene in all patients and the asymptomatic family member. This missense mutation denotes amino acid substitution of the proline residue for arginine residue at position 150 of apoE. Those patients were all heterozygotes with apoE Guangzhou. One of 2 grandsons was a heterozygous carrier of apoE Guangzhou, although he did not have proteinuria. Conclusion: The results of this study suggest that apoE (arginine 150 proline) is a novel apoE variant that etiologically related to LPG. This variant (apoE Guangzhou) may cause a marked molecular conformational change of the apoE and thus impair its binding ability to lipids.
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The APOE allele of APOE-Guangzhou (R150P) was not reported.
“We found that both APOE‐Okayama (R150G; Kinomura et al., 2008) and APOE‐Modena (R150C; Magistroni et al., 2013; Russi et al., 2009) were located on the ε2 allele, while APOE allele of APOE‐Guangzhou (R150P) was not reported (Luo et al., 2008).”
From Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by <i>APOE</i> mutations (2020) · cites this paper as Luo et al., 2008
The substitution of proline has been reported in 5/12 variants in the LDL receptor-binding hotspot region, including apoE Sendai, apoE Chicago, apoE Guangzhou, apoE Osaka/Kurashiki, and apoE Chengdu.
“Interestingly, the substitution of proline has been reported in 5/12 variants in this hotspot region, including apoE Sendai (p.R163P)4), apoE Chicago (p.R165P)11), apoE Guangzhou (p.R168P)12), apoE Osaka/Kurashiki (p.R176P)13, 14), and apoE Chengdu (p.L173P).”
From The Novel Apolipoprotein E Mutation ApoE Chengdu (c.518T＞C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy (2018) · cites this paper as [12]
Nearly half of reported ApoE mutations in lipoprotein glomerulopathy occurred in the LDL-receptor binding site, and these mutations might result in reduced binding capacity of ApoE protein to the LDL receptor.
“Nearly half of mutations occurred in the LDL-receptor binding site (LRBS), such as ApoE Sendai (Arg145Pro) [2], ApoE Chicago (Arg147Cys) [16], ApoE Guangzhou (Arg150Pro)[17], ApoE Modena (Arg 150Cys) [11], ApoE Okayama (Arg150Gly) [18], ApoE Tokyo (Del 141-143) [19], and ApoE Maebasi (Del 142-144). These mutations might result in reduced binding capacity of ApoE protein to LDL receptor.”
From A novel apolipoprotein E mutation, ApoE Ganzhou (Arg43Cys), in a Chinese son and his father with lipoprotein glomerulopathy: two case reports (2022) · cites this paper as [17]
ApoE Guangzhou (Arg150Pro) has been reported in China.
“apoE Chicago (Arg147Pro) 8) and apoE Guangzhou (Arg150Pro) 9) have been reported in the United States and China, respectively.”
From Significance of a Novel Apolipoprotein E Variant, ApoE Osaka/Kurashiki, in Lipoprotein Glomerulopathy (2011) · cites this paper as [9]
Cites
Lipoprotein Glomerulopathy: Glomerular Lipoprotein Thrombi in a Patient With Hyperlipoproteinemia
Saito, T., Sato, H., Kudo, K.-I., Oikawa, S.-I., Shibata, T., Hara, Y., Yoshinaga, K., & Sakaguchi, H. (1989) · American Journal of Kidney Diseases · doi:10.1016/s0272-6386(89)80134-9 · Cited by 148 · see citing works
Saito, T., Sato, H., Oikawa, S., Kudo, K., Kurihara, I., Nakayama, K., Abe, K., Yoshinaga, K., & Sakaguchi, H. (1993) · American Journal of Nephrology · doi:10.1159/000168591 · Cited by 57 · see citing works
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APOE gene variants in primary dyslipidemia
Khalil, Y. A., Rabès, J.-P., Boileau, C., & Varret, M. (2021) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2021.05.007 · Cited by 170 · see citing works
Apolipoprotein E–related glomerular disorders
Saito, T., Matsunaga, A., Fukunaga, M., Nagahama, K., Hara, S., & Muso, E. (2020) · Kidney International · doi:10.1016/j.kint.2019.10.031 · Cited by 77 · see citing works
Tsimihodimos, V., & Elisaf, M. (2011) · Current Opinion in Lipidology · doi:10.1097/mol.0b013e328345ebb0 · Cited by 33 · see citing works
Wu, H., Yang, Y., & Hu, Z. (2018) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.41996 · Cited by 24 · see citing works
Mitani, A., Ishigami, M., Watase, K., Minakata, T., & Yamamura, T. (2011) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.7377 · Cited by 24 · see citing works
A 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
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-citationImpact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features
Matsunaga, A., & Saito, T. (2025) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.65393 · Cited by 14 · see citing works
Common Apolipoprotein E Gene Mutations Contribute to Lipoprotein Glomerulopathy in China
Han, J., Pan, Y., Chen, Y., Li, X., Xing, G., Shi, J., Hou, P., Zhang, H., & Wang, H. (2010) · Nephron Clinical Practice · doi:10.1159/000276578 · Cited by 13 · see citing works
Self-citationSaito, T., & Matsunaga, A. (2011) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.10165 · Cited by 7 · see citing works
Wang, R., Zhao, C., Chen, W., Liu, Z., & Xie, F. (2022) · Journal of Medical Case Reports · doi:10.1186/s13256-022-03302-0 · Cited by 5 · see citing works
Self-citationLi, Y., Chen, J., Zou, Y., Wang, W., & Li, G. (2022) · Medicine · doi:10.1097/md.0000000000028718 · Cited by 5 · see citing works
A boy and his mother with lipoprotein glomerulopathy: Two case reports and literature review
Zhang, S., Fan, L., Li, Z., Liu, T., Jing, X., & Guo, Q. (2025) · Medicine · doi:10.1097/md.0000000000041628 · Cited by 2 · see citing works
- Authors
- Luo, B., Huang, F., Liu, Q., Li, X., Chen, W., Zhou, S.-F., & Yu, X.
- Affiliations
- Sun Yat-sen University (CN)
- Guangzhou Medical University (CN)
- RMIT University (AU)
- Venue
- American Journal of Nephrology
- Publisher
- S. Karger AG
- Published
- 2007-11-29
- Volume
- 28
- Issue
- 2
- Pages
- 347-353
- ISSN
- 0250-8095 (ISSN-L)
- 1421-9670
- PMC
- PMC2785906
- OpenAlex
- W2006927821
- Cited by
- 36
- References
- 2
- Citations by year
- 2025: 2 · 2024: 1 · 2022: 5 · 2021: 2 · 2020: 1 · 2019: 4 · 2018: 1 · 2016: 1 · 2015: 2 · 2014: 2 · 2013: 6 · 2012: 2
- FWCI
- 0.48
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Nephrology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- RMIT Research Repository (RMIT University Library) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- Topics
- Health Sciences › Medicine › Nephrology › Renal Diseases and Glomerulopathies
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Keywords
- apolipoprotein E, lipoprotein glomerulopathy, missense mutations, familial inheritance, proteinuria, Chinese patients, lipid binding
- MeSH terms
- Adult, Aged, Apolipoproteins E, Arginine, Family Health, Female, Humans, Kidney Glomerulus, Lipids, Lipoproteins, Male, Middle Aged, Molecular Conformation, Mutation, Nephrotic Syndrome, Mutation, Missense
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