Isolation, characterization, and mapping to chromosome 19 of the human apolipoprotein E gene.

Das, Hriday K.; McPherson, Joseph; Bruns, G. A. P.; Karathanasis, Sotirios K.; Breslow, J L

doi:10.1016/s0021-9258(18)88963-3

Cited by 293 publications

(28 citation statements)

References 56 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…It is also involved in cholesterol absorption from the intestine (8). The gene coding for apoE (Online Mendelian Inheritance in Man database: 107741) is located on the long arm of chromosome 19 (19q13.2) (9). Three common polymorphisms of apoE have been described in humans (10).…”

Section: Introductionmentioning

confidence: 99%

Apolipoprotein E Gene Polymorphism and Serum Lipid Levels in the Guangxi Hei Yi Zhuang and Han Populations

Yin

Pan²,

Wu³

et al. 2008

Exp Biol Med (Maywood)

View full text Add to dashboard Cite

Hei Yi Zhuang is an isolated subgroup of the Zhuang minority in China. Little is known about the distribution of apolipoprotein (apo) E genetic variations and its role in lipid metabolism in this population. The present study was undertaken to compare the effect of apoE gene polymorphism on serum lipid levels between the Guangxi Hei Yi Zhuang and Han populations. A total of 873 subjects of Hei Yi Zhuang and 867 participants of Han Chinese were surveyed by a stratified randomized cluster sampling. Genotyping of apoE was performed using polymerase chain reaction and restriction fragment length polymorphism. The frequencies of 2, 3, and 4 alleles were 15.23%, 79.84%, and 4.93% in Hei Yi Zhuang, and 9.23%, 81.43%, and 9.34% in Han (P < 0.001); respectively. The frequencies of 2/ 2, 2/ 3, 2/ 4, 3/ 3, 3/ 4, and 4/ 4 genotypes were 4.70%, 17.86%, 3.21%, 68.16%, 5.50%, and 0.57% in Hei Yi Zhuang, and 2.54%, 9.23%, 4.15%, 70.70%, 12.23%, and 1.15% in Han (P < 0.001); respectively. Total cholesterol (TC), triglyceride (TG), low-density lipoprotein cholesterol (LDL-C), and apoB levels were lower in Hei Yi Zhuang than in Han (P < 0.01-0.001), but high-density lipoprotein cholesterol (HDL-C) levels and the ratio of apoA-I to apoB were higher in Hei Yi Zhuang than in Han (P < 0.001 for each). There were significant differences in TC, HDL-C, LDL-C, and apoB levels among the six genotypes in both ethnic groups (P < 0.01-0.001). Hyperlipidemia was positively correlated with age, body mass index, hypertension, alcohol consumption, and apoE allele in both populations (P < 0.05-0.001). TC, LDL-C, and apoB levels were positively correlated, and HDL-C levels were negatively associated with apoE genotypes in both ethnic groups (P < 0.001 for all). The differences in the lipid profiles between Hei Yi Zhuang and Han Chinese might partly attribute to the differences in apoE genotypic and allelic frequencies.

show abstract

Section: Introductionmentioning

confidence: 99%

Apolipoprotein E Gene Polymorphism and Serum Lipid Levels in the Guangxi Hei Yi Zhuang and Han Populations

Yin

Pan²,

Wu³

et al. 2008

Exp Biol Med (Maywood)

View full text Add to dashboard Cite

show abstract

“…Between the isoforms differences were found in amino acid substitutions in the 112 and 158 positions [15]. ApoE2 possesses a cysteine at both positions, ApoE3 possesses a cysteine at 112, but an arginine at 158, and ApoE4 possesses an arginine at both positions [11]. ApoE3 is the most common isoform, occurring in 70-80% of the human population [16].…”

Section: Introductionmentioning

confidence: 99%

“…The C-terminal domain consists of amphipathic α-helices, the high affinity lipid-binding region (244-272 aa), and the region responsible for ApoE self-association (267-299 aa) [10]. ApoE is coded by gene 19q13.32 on the long arm of chromosome 19 [11,12], and the ApoE gene is associated with another apolipoprotein gene, ApoC-I [13]. Human ApoE is characterized by its polymorphic nature and three allelic variants occur in the gene of this protein at the single gene locus, namely ɛ2, ɛ3 and ɛ4 [14].…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

The Role of ApoE Expression and Variability of Its Glycosylation in Human Reproductive Health in the Light of Current Information

Kacperczyk

Kmieciak

Kratz

2021

IJMS

View full text Add to dashboard Cite

Apolipoprotein E (ApoE), a 34-kDa glycoprotein, as part of the high-density lipoprotein (HDL), has antioxidant, anti-inflammatory and antiatherogenic properties. The variability of ApoE expression in the course of some female fertility disorders (endometriosis, POCS), and other gynecological pathologies such as breast cancer, choriocarcinoma, endometrial adenocarcinoma/hyperplasia and ovarian cancer confirm the multidirectional biological function of ApoE, but the mechanisms of its action are not fully understood. It is also worth taking a closer look at the associations between ApoE expression, the type of its genotype and male fertility disorders. Another important issue is the variability of ApoE glycosylation. It is documented that the profile and degree of ApoE glycosylation varies depending on where it occurs, the type of body fluid and the place of its synthesis in the human body. Alterations in ApoE glycosylation have been observed in the course of diseases such as preeclampsia or breast cancer, but little is known about the characteristics of ApoE glycans analyzed in human seminal and blood serum/plasma in the context of male reproductive health. A deeper analysis of ApoE glycosylation in the context of female and male fertility will both enable us to broaden our knowledge of the biochemical and cellular mechanisms in which glycans participate, having a direct or indirect relationship with the fertilization process, and also give us a chance of contributing to the enrichment of the diagnostic panel in infertile women and men, which is particularly important in procedures involved in assisted reproductive techniques. Moreover, understanding the mechanisms of glycoprotein glycosylation related to the course of various diseases and conditions, including infertility, and the interactions between glycans and their specific ligands may provide us with an opportunity to interfere with their course and thus develop new therapeutic strategies. This brief overview details some of the recent advances, mainly from the last decade, in understanding the associations between ApoE expression and some female and male fertility problems, as well as selected female gynecological diseases and male reproductive tract disorders. We were also interested in how ApoE glycosylation changes influence biological processes in the human body, with special attention to human fertility.

show abstract

“…Apolipoprotein E (apoE) is a 299 amino acid long glycoprotein, existing in three common isoforms due to polymorphism in the human APOE gene located on chromosome19 [ 1 ]. Of the three common APOE alleles, ɛ2, ɛ3, and ɛ4, the latter has repeatedly been identified as the strongest genetic risk factor for developing sporadic Alzheimer’s disease (AD), the leading cause of neurodegenerative dementia [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Plasma Apolipoprotein E3 and Glucose Levels Are Associated in APOE ɛ3/ɛ4 Carriers

Edlund

Chen

Lee

et al. 2021

JAD

View full text Add to dashboard Cite

Background: Altered cerebral glucose metabolism, especially prominent in APOE ɛ4 carriers, occurs years prior to symptoms in Alzheimer’s disease (AD). We recently found an association between a higher ratio of plasma apolipoprotein E4 (apoE4) over apoE3, and cerebral glucose hypometabolism in cognitively healthy APOE ɛ3/ɛ4 subjects. Plasma apoE does not cross the blood-brain barrier, hence we speculate that apoE is linked to peripheral glucose metabolism which is known to affect glucose metabolism in the brain. Objective: Explore potential associations between levels of plasma insulin and glucose with previously acquired plasma apoE, cerebral metabolic rate of glucose (CMRgl), gray matter volume, and neuropsychological test scores. Methods: Plasma insulin and glucose levels were determined by ELISA and a glucose oxidase assay whereas apoE levels were earlier quantified by mass-spectrometry in 128 cognitively healthy APOE ɛ3/ɛ4 subjects. Twenty-five study subjects had previously undergone FDG-PET and structural MRI. Results: Lower plasma apoE3 associated with higher plasma glucose but not insulin in male subjects and subjects with a body mass index above 25. Negative correlations were found between plasma glucose and CMRgl in the left prefrontal and bilateral occipital regions. These associations may have functional implications since glucose levels in turn were negatively associated with neuropsychological test scores. Conclusion: Plasma apoE3 but not apoE4 may be involved in insulin-independent processes governing plasma glucose levels. Higher plasma glucose, which negatively affects brain glucose metabolism, was associated with lower plasma apoE levels in APOE ɛ3/ɛ4 subjects. High plasma glucose and low apoE levels may be a hazardous combination leading to an increased risk of AD.

show abstract

Isolation, characterization, and mapping to chromosome 19 of the human apolipoprotein E gene.

Cited by 293 publications

References 56 publications

Apolipoprotein E Gene Polymorphism and Serum Lipid Levels in the Guangxi Hei Yi Zhuang and Han Populations

Apolipoprotein E Gene Polymorphism and Serum Lipid Levels in the Guangxi Hei Yi Zhuang and Han Populations

The Role of ApoE Expression and Variability of Its Glycosylation in Human Reproductive Health in the Light of Current Information

Plasma Apolipoprotein E3 and Glucose Levels Are Associated in APOE ɛ3/ɛ4 Carriers

Contact Info

Product

Resources

About