The relationship of APOE polymorphism and cholesterol levels in normoglycemic and diabetic subjects in a biethnic population from the San Luis Valley, Colorado

Kamboh, M. Ilyas; Ce, Aston; Rf, Hamman

doi:10.1016/0021-9150(94)05409-c

Cited by 104 publications

(68 citation statements)

References 34 publications

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“…The average excess of the common APOE alleles reported here is in agreement with previous studies (4,5,38). The effect of APOE alleles on lipid levels was more pronounced in women (Figure 1).…”

Section: Discussionsupporting

confidence: 94%

“…In the present study, associations of APOE genotypes with serum lipids were consistent with the well-identified effects of APOE (33)(34)(35). Several studies have shown that the effect of E*2 in reducing cholesterol levels is two-to four-fold the increasing effect of E*4 (4,5,36), whereas similar effects of both alleles have also been reported (37,38). In Brazilian Caucasians the influence of E*2 was greater than that of E*4.…”

Section: Discussionsupporting

confidence: 91%

“…E*2 has been associated with higher levels (5,23,35,(38)(39)(40) and lower levels (6,33) relative to E*3 and E*4. Our study shows higher triglyceride concentrations in E*4 carriers than in E*2 carriers.…”

Section: Discussionmentioning

confidence: 99%

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Association of apolipoprotein E polymorphism with plasma lipids and Alzheimer's disease in a Southern Brazilian population

de-Andrade

Larrandaburu

Callegari-Jacques

et al. 2000

Braz J Med Biol Res

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Apolipoprotein E (protein: apo E; gene: APOE) plays an important role in the multifactorial etiology of both Alzheimers disease (AD) and lipid level concentrations. The polymerase chain reaction (PCR) was used to investigate the APOE gene polymorphism in 446 unrelated Caucasians, among them 23 AD patients, and 100 Afro-Brazilians living in Porto Alegre, Brazil. The frequencies of the APOE*2, APOE*3 and APOE*4 alleles were 0.075, 0.810 and 0.115 in Caucasians and 0.075, 0.700 and 0.225 in Afro-Brazilians, respectively (c 2 = 8.72, P = 0.013). A highly significant association was observed between the APOE*4 allele and AD in this population-based sample. The APOE*4 frequency in AD patients (39%) was about four times higher than in the general Caucasian population (11.5%). The influence of each of the three common APOE alleles on lipid traits was evaluated by the use of the average excess statistic. The E*2 allele is associated with lower levels of triglycerides and of total and non-HDL cholesterol in both men and women. Conversely, the E*4 allele is associated with higher levels of these traits in women only. The effect of APOE alleles was of greater magnitude in women.

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Section: Discussionsupporting

confidence: 94%

Section: Discussionsupporting

confidence: 91%

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Association of apolipoprotein E polymorphism with plasma lipids and Alzheimer's disease in a Southern Brazilian population

de-Andrade

Larrandaburu

Callegari-Jacques

et al. 2000

Braz J Med Biol Res

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“…10% of the samples were selected at random and repeated. Genotypes for APOE were determined either as previously described [5] or using TaqMan SNP genotyping assays. …”

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confidence: 99%

No association of SORL1 SNPs with Alzheimer's disease

Minster¹,

DeKosky²,

Kamboh³

2008

Neuroscience Letters

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SORL1 is an element of the amyloid precursor protein processing pathway and is therefore a good candidate for affecting Alzheimer's disease (AD) risk. Indeed, there have been reports of associations between variation in SORL1 and AD risk. We examined six statistically significant single-nucleotide polymorphisms from the initial observation in a large Caucasian American case-controls cohort (1000 late-onset AD [LOAD] cases and 1000 older controls). Analysis of allele, genotype and haplotype frequencies revealed no association with LOAD risk in our cohort. KeywordsAlzheimer's disease; SORL1; genetics It is estimated that up to 79% of the risk for late-onset Alzheimer's disease (LOAD) is attributable to genetics [4]. Thus far, only variation in APOE has been definitively associated with LOAD [2], but only 20%-29% of risk is attributable to this variation [20,22]. Association between variation in an excellent biological candidate gene, sortilin-related receptor 1 (SORL1), and the risk of LOAD has been reported [18]. We genotyped and analyzed six of the single nucleotide polymorphisms (SNPs), listed in Table 1, that were reported to be associated with LOAD in a multiple case-control cohort or family-based samples [18] to verify this report.Case subjects were Caucasian Americans with LOAD (n = 1009; mean age-at-onset [AAO] 72.8 ± 6.2 [SD] years; 67.7% female; 7.3% autopsy-confirmed) recruited by the University of Pittsburgh Alzheimer's Disease Research Center. All cases were evaluated clinically and met criteria for probable or possible AD [11] or by autopsy and met neuropathological criteria for definite AD [13,14]. Controls were Caucasian Americans of age 60 or above with no psychiatric or neurological disorders (n = 1009; mean age-at-baseline 74.1 ± 6.2 [SD] years; 59.9% female; 1.3% autopsy-confirmed). All experiments on human subjects were conducted in accordance with the Declaration of Helsinki, and all procedures were carried out with the adequate understanding and written consent of the subjects. The genetic study was approved by the University of Pittsburgh Institutional Review Board.Genotypes for the six SORL1 SNPs were ascertained from genomic DNA using TaqMan SNP genotyping assays (Applied Biosystems, Foster City, California). Case and control samples were present on each 384-well plate used in genotyping. To estimate genotyping error rates, *Corresponding Author: University of Pittsburgh, Department of Human Genetics, Pittsburgh PA 15261, 412-624-3066, Fax: 412-383-7844, ikamboh@hgen.pitt.edu. Publisher's Disclaimer: This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final citable form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. 10% of the s...

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“…Three common alleles (e2, e3, and e4) of apolipoprotein E (APOE) are associated with systematic effects on plasma low density lipoprotein cholesterol (LDL-C) concentrations; they account for approximately 5-10% of the population variation in plasma LDL-C concentrations (Boerwinkle & Sing, 1987). The effects of these alleles on plasma LDL-C have proved highly consistent among several populations (Boerwinkle & Sing, 1987;Kamboh et al 1995;Sing & Davignon, 1985;Srinivassn et al 1993). The APOE/LDL-C association thus provides an excellent test case for a system with a gene explaining a small proportion of the trait variation.…”

Section: Applicationsmentioning

confidence: 99%

A statistically robust variance‐components approach for quantitative trait linkage analysis

Wang

Guerra

Cohen

1999

Annals of Human Genetics

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summaryPreviously we showed ) that a statistically robust version of the Haseman & Elston (1972) sib-pair method greatly increased power to detect linkage in the presence of outliers. In this paper we report on M-estimation to accommodate outliers in the variancecomponents approach to linkage analysis developed by Amos (1994). Simulations show that in the presence of outliers the robust variance-components approach provides substantially greater power, more precise estimation of heritabilities, and better false-positive rates than the original Gaussian based approach. In the absence of outliers the performance of the robust variance-components approach is similar to that of the Gaussian based approach. For illustration we apply the method to two well characterized lipoprotein systems.

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The relationship of APOE polymorphism and cholesterol levels in normoglycemic and diabetic subjects in a biethnic population from the San Luis Valley, Colorado

Cited by 104 publications

References 34 publications

Association of apolipoprotein E polymorphism with plasma lipids and Alzheimer's disease in a Southern Brazilian population

Association of apolipoprotein E polymorphism with plasma lipids and Alzheimer's disease in a Southern Brazilian population

No association of SORL1 SNPs with Alzheimer's disease

A statistically robust variance‐components approach for quantitative trait linkage analysis

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