Frequency of the XbaI, EcoRI, PvuII and MspI polymorphisms of the apolipoprotein B gene in relation to hypercholesterolaemia in the general population

Series, J.J.; Gaffney, Dairena; Packard, Christopher J.; Shepherd, James

doi:10.1016/0009-8981(93)90252-y

Cited by 8 publications

(5 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Multivariate logistic regression analysis with stepwise criteria revealed an association between the presence of the APOB X+ allele and less chance of an increase in TC and LDL-cholesterol in the control group, this being contrary to results as reported by Series et al (1993).…”

Section: Discussioncontrasting

confidence: 99%

“…Variants in the genes encoding apolipoproteins E ( APOE ) and B ( APOB ), as well as the low-density lipoprotein receptor ( LDLR ), have been associated with hypercholesterolemia and the increased risk of CAD in several populations (Hansen et al , 1993; Series et al , 1993; Ribera et al , 1995; Salazar et al 1999; 2000; Cavalli et al , 2000; Pongrapeeporn et al , 2000; Guo et al , 2002; Hirashiki et al , 2003; Rios et al , 2003; Souza et al , 2007). Xanthelasma in association with cardiovascular disease has been reported in individuals with familial hypercholesterolemia and carrying LDLR mutations (Norman et al , 1999), and have also been associated with the presence of the APOE*4 allele (Ribera et al , 1995).…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Effects of APOE, APOB and LDLR variants on serum lipids and lack of association with xanthelasma in individuals from Southeastern Brazil

et al. 2009

View full text Add to dashboard Cite

Xanthelasma might be a clinical manifestation of dyslipidemia, a recognized risk factor for coronary artery disease. We investigated the association of apolipoprotein E (APOE HhaI), apolipoprotein B (APOB XbaI and Ins/Del) and LDL receptor (LDLR AvaII and HincII) gene polymorphisms with lipid profiles in 100 Brazilians with xanthelasma and 100 controls. Allele frequencies were similar in both groups. APOE, APOB and LDLR genotypes were not correlated with differences in the serum lipid profile. In individuals with xanthelasma, the APOB D allele was associated with less chance of having increased LDL-cholesterol (O.R. = 0.16, CI95% = 0.03-0.94, p = 0.042). In the control group, the APOB X+ allele was associated with less chance of having both increased total cholesterol (O.R. = 0.16, CI95% = 0.03-0.78, p = 0.023) and increased LDL-cholesterol (O.R. = 0.10, CI95% = 0.02-0.60, p = 0.012). Moreover, there was a significantly higher frequency of control individuals (68%) with elevated serum triglyceride levels, compared to patients (48%, p = 0.008). On the other hand, triglyceride levels in controls also seemed to be influenced by all other gene polymorphisms studied, an effect that might be enhanced by environmental factors.

show abstract

Section: Discussioncontrasting

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Effects of APOE, APOB and LDLR variants on serum lipids and lack of association with xanthelasma in individuals from Southeastern Brazil

et al. 2009

View full text Add to dashboard Cite

show abstract

“…From these 16 publications, seven provided no otherwise relevant data, whereas from the remaining nine publications, the incomplete set of reported data was used (Deeb et al 1992;Gaffney et al 1993;Glisic et al 1997;Hansen et al 1993;Hosking et al 1992;Machado et al 2001;Nieminen et al 1992;Peacock et al 1992;Pouliot et al 1994;Series et al 1993) Thus, data from a total of 33 studies were used. The characteristics of these studies are summarized in Tables 2 and 3.…”

Section: Literature Searchmentioning

confidence: 99%

Molecular variation at the apolipoprotein�B gene locus in relation to lipids and cardiovascular disease: a systematic meta-analysis

et al. 2003

View full text Add to dashboard Cite

Apolipoprotein B (apoB) is the sole protein component of low-density lipoprotein (LDL) and is thought to play an important role in atherogenesis. We performed a meta-analysis of the associations between the three most frequently investigated polymorphisms (XbaI, signal peptide insertion/deletion, EcoRI) in the apolipoprotein B (APOB) gene, lipid parameters, and the risk of ischemic heart disease (IHD). We restricted our analysis to Caucasians. Homozygotes for the XbaI X+ allele had significantly elevated levels of LDL cholesterol (LDL-C) and apoB, but a decreased risk (OR=0.80; 95%CI: 0.66-0.96) of IHD. Homozygosity for the signal peptide deletion allele was associated with similarly increased levels of LDL-C and apoB, and with an increased risk of IHD (OR=1.30; 95%CI: 1.08-1.58). Subjects homozygous for the rare EcoRI allele had significantly decreased levels of total and LDL cholesterol, but unaltered risk of IHD. We conclude that all three polymorphic apoB sites are associated with altered lipid levels, but not necessarily with a consistently altered risk of IHD. These data suggest that the relationship between apoB levels, hypercholesterolemia and IHD risk cannot have a simple molecular basis in the apoB gene.

show abstract

“…The analysis of lipid parameters of the hypercholesterolemic individuals did not show association between MspI genotypes and total cholesterol and LDL-C serum levels. However, M-allele and M+Mgenotype has been associated with hypercholesterolemic phenotype in some studies (30,31). Even though we did not find 3500Q and 3531 mutations in the hypercholesterolemic group, when we used the positive DNA controls, this technique has shown to be very accurate.…”

Section: Resultsmentioning

confidence: 62%

“…The procedure described here can be used for screening of the more frequent mutations at the functional domain of the apo B gene. Therefore, it enables the investigation of the hypercholesterolemia related to FDB or its association with MspI polymorphism, as it has been demonstrated previously (30,31).…”

Section: Resultsmentioning

confidence: 79%

Rapid detection of 3500Q and 3531 mutations andMspI polymorphism in exon 26 at the apolipoprotein B gene

Cavalli

Hirata

2001

J. Clin. Lab. Anal.

View full text Add to dashboard Cite

Several environmental and genetic factors are associated with high levels of cholesterol. Hypercholesterolemia is the main phenotype of Familial Defective Apolipoprotein B and Familial Hypercholesterolemia that are caused by mutations at the apolipoprotein (apo) B and LDL receptor genes, respectively. Identification of the specific genetic alteration associated with hypercholesterolemia is an important issue in clinical diagnosis of high risk for CAD. Apo B gene mutations and polymorphisms are usually screened by SSCP, DGGE, and heteroduplex, which must be confirmed by DNA sequencing or by direct detection using PCR techniques. In this study, we have optimized a PCR‐RFLP procedure for identification of 3500Q and 3531 mutations and MspI polymorphism at the apo B gene. The technique can be performed in a single reaction, using the restriction endonuclease MspI for simultaneous detection of 3500Q mutation and MspI polymorphism, and NsiI for detection of 3531 mutation. The procedure was validated by analysis of control DNA samples from individuals carrying these mutations. Screening of 186 Brazilian hypercholesterolemic individuals showed that the frequency of the M‐allele (7.8%) of MspI polymorphism was similar to that found in other individuals with CAD. However, neither 3500Q nor 3531 mutations were detected in this group. In conclusion, this procedure is simple and rapid, being easily introduced in clinical laboratories for direct detection of the more frequent mutations at the apo B gene associated with hypercholesterolemia. J. Clin. Lab. Anal. 15:35–39, 2001. © 2001 Wiley‐Liss, Inc.

show abstract

Frequency of the XbaI, EcoRI, PvuII and MspI polymorphisms of the apolipoprotein B gene in relation to hypercholesterolaemia in the general population

Cited by 8 publications

References 22 publications

Effects of APOE, APOB and LDLR variants on serum lipids and lack of association with xanthelasma in individuals from Southeastern Brazil

Effects of APOE, APOB and LDLR variants on serum lipids and lack of association with xanthelasma in individuals from Southeastern Brazil

Molecular variation at the apolipoprotein�B gene locus in relation to lipids and cardiovascular disease: a systematic meta-analysis

Rapid detection of 3500Q and 3531 mutations andMspI polymorphism in exon 26 at the apolipoprotein B gene

Contact Info

Product

Resources

About