Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations

Yin, Rong; Chen, Guangqin; Wang, Yong; Lin, Wei; Dezhai, Yang; Pan, Shang‐Ling

doi:10.1186/1471-2350-8-45

Cited by 15 publications

(12 citation statements)

References 39 publications

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“…SNPs, including codons 3611 (rs693) and 4154 (rs1801701), result in amino acid substitution of glutamine to arginine and glutamic acid to lysine, respectively. These SNPs have been shown to be associated with variation in total cholesterol (TC) and low density lipoprotein-cholesterol (LDL-C) levels [ 20 , 22 , 24 , 25 ]. In addition, another commonly studied polymorphism is found in the APOB gene in exon 29 (rs1042031) involves a silent mutation from cytosine to thymine in the third base of codon 2488 and has been reported to be associated with dyslipidemia [ 20 , 22 , 23 , 25 ].…”

Section: Introductionmentioning

confidence: 99%

“…These SNPs have been shown to be associated with variation in total cholesterol (TC) and low density lipoprotein-cholesterol (LDL-C) levels [ 20 , 22 , 24 , 25 ]. In addition, another commonly studied polymorphism is found in the APOB gene in exon 29 (rs1042031) involves a silent mutation from cytosine to thymine in the third base of codon 2488 and has been reported to be associated with dyslipidemia [ 20 , 22 , 23 , 25 ]. Finally, a variable number of tandem repeats (VNTR) at the 3’ end, located about 75 bp downstream the second polyadenylation signal [ 13 ] consisting of a dimeric 15 bp AT repeat unit [ 9 , 14 , 26 ], has been suggested to influence polyadenylation and processing of the mRNA transcript of apoB-100 [ 13 ].…”

Section: Introductionmentioning

confidence: 99%

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Genetic association of APOB polymorphisms with variation in serum lipid profile among the Kuwait population

et al. 2014

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BackgroundSeveral studies have identified APOB as a candidate gene predisposing individuals to dyslipidemia. Polymorphisms including the signal peptide (rs11279109), codon 2488 XbaI (rs1042031), codon 3611 MspI (rs693), codon 4154 EcoRI (rs1801701) and the 3’ variable number of tandem repeats have been reported to be associated with dyslipidemia in several populations. With limited studies on Arabs, this study aimed to investigate the genetic association of APOB polymorphisms and assess the potential influence of minor and rare alleles on serum lipid levels in the Kuwaiti population.MethodsA total of 795 Kuwaiti subjects, documented with phenotypic data and fasting serum lipid levels, were genotyped for the five polymorphisms using PCR, PCR-RFLP and gene fragment analysis. Genotype and allele association with variation in serum lipid levels as well as haplotypes were analyzed using chi-square test, univariate and logistic regression analysis.ResultsAnalysis of the genotype and allele frequencies distribution revealed a significant positive association between the APOB signal peptide and 3611 MspI polymorphisms with increased levels of triglycerides (statistical power of 80%). Haplotype analysis further supported the findings by showing that carriers of haplotypes (IX−M−E+M) had significantly lower mean (SD) TG levels (0.86 ± 0.07) as compared to non-carriers (1.01 ± 0.02). Significance was also observed with regards to positive family history of hypercholesterolemia.ConclusionThe results imply a “protective role” for two alleles (rs11279109 and rs1801701) in which logistic regression analysis showed a significant half–fold decrease in the risk for heterozygotes of rs11279109 and an 8.8 fold decrease in the risk for homozygous M−M− of rs1801701 of having lower TG levels (<1.70 mmol/L) in individuals. This suggests that genetic interaction between various polymorphisms at different gene loci act in linkage disequilibrium to affect serum TG levels. Apo B genotyping may be a useful adjunct for the identification of individuals at risk of developing dyslipidemia in order to provide them with lifestyle modifications and/or pharmacological intervention to mitigate the effects of gene interaction and environmental influence.Electronic supplementary materialThe online version of this article (doi:10.1186/1476-511X-13-157) contains supplementary material, which is available to authorized users.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Genetic association of APOB polymorphisms with variation in serum lipid profile among the Kuwait population

et al. 2014

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“…PCR products of the patients and the controls were run side by side in gels. The number of core repeats in the amplified products was calculated using Microsoft Excel following the formula described by Ruixing et al 21 . The alleles were designated according to the number of core repeats.…”

Section: Allele Size Determination and Statistical Analysismentioning

confidence: 99%

“…Purity and concentration of extracted DNA samples were measured using Nano Drop UV-Vis Spectrophotometer (Thermo Fisher Scientific Inc.). Sequence amplification and detection: APOB 3ʹ-VNTR region of the studied samples were amplified by PCR using primers already described by Ruixing et al 21 in a thermal cycler (Gene Atlas G, Astec Co. Ltd.). About 20 to 50 ng of genomic DNA was used for amplification in a final reaction volume of 25 μl containing PCR buffer (EP0712, Thermo Scientific, USA), 1.0 µl of each primer (10 µM), 1 µl dNTPmix (10 mM) (R0191, Thermo Scientific, USA) and 1U Taq polymerase (EP0712, Thermo Scientific, USA).…”

Section: Introductionmentioning

confidence: 99%

Association of APOB 3ʹ-VNTR alleles with type 2 diabetes, BMI, systolic and diastolic blood pressure

Sajib

Khan

Haque

et al. 2018

Bangladesh J Med Sci

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Background: Apolipoprotein B (APOB) is a component of chylomicrons, low-density lipoproteins (LDL), very low-density lipoproteins (VLDL), intermediate density lipoproteins (IDL) and functions as the main protein for transporting cholesterol to peripheral cells. APOB gene has an AT-rich VNTR site at its 3ʹ-untranslated region (3ʹ-UTR). APOB 3ʹ-VNTR alleles with ≥36 repeats have been shown to be strongly associated with increased serum lipid levels, gallstone formation and coronary artery disease. Objectives: To investigate any possible association of APOB 3ʹ-VNTR alleles with type 2 diabetes, BMI, systolic and diastolic blood pressure. Materials and methods: APOB 3ʹ-VNTR region in the DNA of non-diabetic controls and type 2 diabetic patients were amplified by polymerase chain reaction (PCR) and the numbers of core repeat in the amplified products were determined. Frequencies of the APOB alleles and genotypes among the controls and the patients were calculated and statistical analyses were performed. Results and discussion: Here we report for the first time that APOB 3ʹ-VNTR alleles have different distribution frequencies among type 2 diabetic and non-diabetic individuals. We also observed higher body mass index (BMI), systolic and diastolic blood pressures in individuals who had at least one APOB 3ʹ-VNTR allele with ≥35 repeats. Conclusion: Our study might bridge among the genetic signature of APOB 3ʹ-VNTR, high APOB protein level in blood, diabetes and other co-morbidities.

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“…The Han and Zhuang ethnic groups make up the largest proportion of the population of the Guangxi Zhuang Autonomous Region of China (62 and 32%, respectively). Previously, a large number of studies have focused on diseases in these two groups within the population with several genetic differences, including the prevalence of genes linked to hyperlipidemia and 3'APOB-VNTR polymorphisms, and other differences, including the presence of many pharmacogenetic variants and drug detoxification mechanisms, having been identified (5)(6)(7). In this light, the present study was performed to explore diagnostic biomarkers of coronary artery stenosis in patients of the ethnic Zhuang group with CHD and to validate potential correlations between the expression levels of TLR2/4 in the circulatory system.…”

Section: Introductionmentioning

confidence: 99%

Correlation between coronary stenosis and Toll‑like receptors 2 and 4 levels in Chinese Zhuang patients with coronary heart disease

et al. 2019

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The present study attempted to determine the correlation of the degree of coronary artery stenosis and Tolllike receptor 2/4 (TLR2/4) levels in Chinese Zhuang patients with coronary heart disease (CHD). A total of 466 Chinese patients from the Zhuang Ethnic population diagnosed with CHD at the , together with 102 control patients, were recruited for the present study. The patients with CHD were divided into three groups depending on the number of diseased arteries. The patients with CHD were also classified according to their Gensini scores. Blood liver and renal function parameters, as well as blood sugar and lipid levels were measured. ELISA was used for TLR2/4 measurements. There were no significant differences with gender, age and body mass index between the CHD and control groups. The levels of TLR2/4 in the peripheral blood of the control and CHD groups were 2.34±0.85/5.08±2.41 and 5.22±3.16/9.33±4.92 ng/ml, respectively, and the differences were significant (P<0.001). Analysis of the three subgroups of vessel disease indicated that the expression of TLR2/4 was progressively higher with the increase in the number of affected vessels (P<0.01). There were also significant differences between the mild, moderate and severe stenosis groups (P<0.01). A positive linear correlation between TLR2/4 and the Gensini coronary artery score was identified (r=0.508 and 0.346, respectively; P<0.0001). In conclusion, the present study determined a positive correlation between the degree of coronary artery stenosis and the expression level of TLR2/4 in the serum of Chinese Zhuang patients with CHD. Serum TLR2/4 may be used to predict the severity of CHD.

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Effect of the 3'APOB-VNTR polymorphism on the lipid profiles in the Guangxi Hei Yi Zhuang and Han populations

Cited by 15 publications

References 39 publications

Genetic association of APOB polymorphisms with variation in serum lipid profile among the Kuwait population

Genetic association of APOB polymorphisms with variation in serum lipid profile among the Kuwait population

Association of APOB 3ʹ-VNTR alleles with type 2 diabetes, BMI, systolic and diastolic blood pressure

Correlation between coronary stenosis and Toll‑like receptors 2 and 4 levels in Chinese Zhuang patients with coronary heart disease

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