Hypertriglyceridemia and pancreatitis in a patient with apolipoprotein E7 (p.[E244K; E245K])/E4
Abstract
Background The etiology of hypertriglyceridemia is complex and one of the common variants in affecting plasma lipid levels is apolipoprotein (apo) E isoform. Scores of apo E variants have been reported, including apo E7. However, a clinical lipid phenotype of apo E7 has not been fully elucidated. Methods A 48-year-old Japanese male had hypertriglyceridemia and a history of repeated episodes of acute pancreatitis. The measurement of serum apolipoproteins and apo E phenotyping, and the sequencing analyses of several genes regulating triglyceride metabolism were performed in the patient. Results The apo E phenotype of the patient was E7/E4. Apo E7 had the same point mutations p.[E244K; E245K] in APOE as reported previously. In addition, he had APOA5 haplotypes associated with hypertriglyceridemia. Laboratory examinations excluded deficiency of apolipoproteins, lipoprotein lipase, and GPI-HBP1 in this patient. Conclusions This is, to our knowledge, the first report of severe hypertriglyceridemia and acute pancreatitis in a patient with apo E7.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Cites
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
den Dunnen, J. T., & Antonarakis, S. E. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200001)15:1 · Cited by 1,746 · see citing works
Association of apolipoprotein E genotypes with lipid levels and coronary risk
Bennet, A. M., Di Angelantonio, E., Ye, Z., Wensley, F., Dahlin, A., Ahlbom, A., Keavney, B., Collins, R., Wiman, B., de Faire, U., et al. (2007) · JAMA · doi:10.1001/jama.298.11.1300 · Cited by 794 · see citing works
Hegele, R. A., Ginsberg, H. N., Chapman, M. J., Nordestgaard, B. G., Kuivenhoven, J. A., Averna, M., Borén, J., Bruckert, E., Catapano, A. L., Descamps, O. S., et al. (2014) · The Lancet Diabetes & Endocrinology · doi:10.1016/s2213-8587(13)70191-8 · Cited by 635 · see citing works
Issues in Hypertriglyceridemic Pancreatitis
Scherer, J., Singh, V. P., Pitchumoni, C. S., & Yadav, D. K. (2013) · Journal of Clinical Gastroenterology · doi:10.1097/01.mcg.0000436438.60145.5a · Cited by 482 · see citing works
Dietary, physiological, genetic and pathological influences on postprandial lipid metabolism
López‐Miranda, J., Williams, C. M., & Lairon, D. (2007) · British Journal Of Nutrition · doi:10.1017/s000711450774268x · Cited by 321 · see citing works
Khan, T. A., Shah, T., Prieto‐Merino, D., Zhang, W., Price, J. F., Fowkes, G. R., Cooper, J. A., Talmud, P. J., Humphries, S. E., Sundström, J., et al. (2013) · International Journal of Epidemiology · doi:10.1093/ije/dyt034 · Cited by 175 · see citing works
Hypertriglyceridemia and acute pancreatitis
Murphy, M. J., Sheng, X., MacDonald, T. M., & Wei, L. (2013) · JAMA Internal Medicine · doi:10.1001/2013.jamainternmed.477 · Cited by 172 · see citing works
A novel genetic variant in the apolipoprotein A5 gene is associated with hypertriglyceridemia
Kao, J. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg255 · Cited by 170 · see citing works
Yamamura, T., Yamamoto, A., Sumiyoshi, T., Hiramori, K., Nishioeda, Y., & Nambu, S. (1984) · Journal of Clinical Investigation · doi:10.1172/jci111532 · Cited by 91 · see citing works
Wang, J., & Hegele, R. A. (2007) · Lipids in Health and Disease · doi:10.1186/1476-511x-6-23 · Cited by 89 · see citing works
Pullinger, C. R., Aouizerat, B. E., Movsesyan, I., Durlach, V., Sijbrands, E. J. G., Nakajima, K., Poon, A., Dallinga‐Thie, G. M., Hattori, H., Green, L., et al. (2008) · Journal of Lipid Research · doi:10.1194/jlr.p800011-jlr200 · Cited by 68 · see citing works
Tajima, S., Yamamura, T., Menju, M., & Yamamoto, A. (1989) · The Journal of Biochemistry · doi:10.1093/oxfordjournals.jbchem.a122648 · Cited by 44 · see citing works
Okubo, M., Horinishi, A., Saito, M., Ebara, T., Endo, Y., Kaku, K., Murase, T., & Eto, M. (2007) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2007.06.018 · Cited by 43 · see citing works
Self-citationThe Complex Genetic Basis of Plasma Triglycerides
Johansen, C. T., & Hegele, R. A. (2012) · Current Atherosclerosis Reports · doi:10.1007/s11883-012-0243-2 · Cited by 42 · see citing works
Interactions between age and apoE genotype on fasting and postprandial triglycerides levels
Carvalho-Wells, A. L., Jackson, K. G., Gill, R. D., Olano-Martin, E., Lovegrove, J. A., Williams, C. M., & Minihane, A. M. (2010) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2010.06.036 · Cited by 37 · see citing works
Matsunaga, A., Arishima, H., Niimura, H., Zhang, B., Uehara, Y., Ohwaki, K., Morita, M., Hayashida, K., & Saku, K. (2007) · Circulation Journal · doi:10.1253/circj.71.746 · Cited by 36 · see citing works
(1995) · Clinical Genetics · Cited by 32 · see citing works
Identification of Human Apolipoprotein E Variant Gene: Apolipoprotein E7 (Glu244,245↑Lys244,245)1
Maeda, H., Nakamura, H., Kobori, S., Okada, M., Mori, H., Niki, H., Ogura, T., & Hiraga, S. (1989) · The Journal of Biochemistry · doi:10.1093/oxfordjournals.jbchem.a122618 · Cited by 29 · see citing works
Ebara, T., Endo, Y., Yoshiike, S., et al. (2007) · Clinica Chimica Acta · doi:10.1016/j.cca.2007.08.011 · Cited by 25 · see citing works
Self-citationMatsunaga, A., Sasaki, J., Moriyama, K., Arakawa, F., Takada, Y., Nishi, K., Hidaka, K., & Arakawa, K. (1995) · Clinical Genetics · doi:10.1111/j.1399-0004.1995.tb04063.x · Cited by 23 · see citing works
Increased serum remnant lipoproteins in patients with apolipoprotein E7 (apo ESuita)
Yanagi, K., Yamashita, S., Hiraoka, H., Ishigami, M., Kihara, S., Hirano, K.-I., Sakai, N., Nozaki, S., Funahashi, T., Kameda-Takemura, K., et al. (1997) · Atherosclerosis · doi:10.1016/s0021-9150(96)06068-6 · Cited by 16 · see citing works
A novel APOA5 splicing mutation IVS2+1g>a in a Japanese chylomicronemia patient
Okubo, M., Ishihara, M., Iwasaki, T., Ebara, T., Aoyama, Y., Murase, T., & Hattori, H. (2009) · Atherosclerosis · doi:10.1016/j.atherosclerosis.2009.03.046 · Cited by 15 · see citing works
Self-citationYamanouchi, Y., Arinami, T., Tsuchiya, S., Miyazaki, R., Takaki, H., Takano, T., & Hamaguchi, H. (1994) · Japanese journal of human genetics · doi:10.1007/bf01874050 · Cited by 15 · see citing works
Okubo, M., Aoyama, Y., Harada, K., Fukawa, M., Tsukada, T., Mokuno, H., Yamada, N., & Murase, T. (1998) · Atherosclerosis · doi:10.1016/s0021-9150(98)00121-x · Cited by 12 · see citing works
Self-citationUeyama, Y., Nozaki, S., Yanagi, K., Hiraoka, H., Nakagawa, T., Sakai, N., Jiao, S., Yamashita, S., & Matsuzawa, Y. (1994) · Journal of Internal Medicine · doi:10.1111/j.1365-2796.1994.tb01051.x · Cited by 9 · see citing works
Flagged first, then by citations
Cited by
Still being checked.
- Authors
- Arai, M., Nishimura, A., Mori, Y., Ebara, T., & Okubo, M.
- Affiliations
- Toranomon Hospital (JP)
- Okinaka Memorial Institute for Medical Research (JP)
- Corresponding author
- Okubo, Minoru
- Venue
- Clinica Chimica Acta
- Publisher
- Elsevier BV
- Published
- 2014-09
- Volume
- 436
- Pages
- 188-192
- ISSN
- 0009-8981 (ISSN-L)
- OpenAlex
- W2033324391
- Cited by
- 2
- References
- 25
- Citations by year
- 2020: 1 · 2017: 1
- FWCI
- 0.23
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Clinica Chimica Acta (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Health Sciences › Medicine › Surgery › Lipoproteins and Cardiovascular Health
- Health Sciences › Medicine › Surgery › Pancreatitis Pathology and Treatment
- Keywords
- hypertriglyceridemia, acute pancreatitis, triglyceride metabolism
- MeSH terms
- Acute Disease, Adult, Apolipoproteins E, Base Sequence, Humans, Male, Middle Aged, Pancreatitis, Phenotype, Hypertriglyceridemia, Sequence Analysis, Protein Isoforms
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
