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Evaluation of Apolipoprotein A5 Polymorphism in Coronary- Heart Disease Patients  [cached]
Somayeh Haqparast,Peyman Izadpanah,Abbas Abdollahi,Sohrab Najafipoor
Journal of Fasa University of Medical Sciences , 2012,
Abstract: Background and Objectives: Apolipoprotein A5 (APOA5) gene is important in determining plasma triglyceride levels, a major cardiovascular disease risk factor. Mutation in this gene affected plasma triglyceride level. We looked for possible associations of the APOA5 gene polymorphism S19W with coronary heart disease (CHD) in a sample of Iranian population. Materials and Methods: A total of 73 CHD patients and 55 controls were genotyped by polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) for this single nucleotide polymorphism. Serum lipids and Fast Blood Sugar concentrations were measured in all subjects with enzymatic method. Results: Allele frequencies observed in our population were 0.041 for the W allele and 0.959 for the S allele which are similar to other populations (p>0.05). There is no evidence that APOA5 S19W, is a risk factor of CHD in our sample (p>0.05). In addition, we observed no association between the APOA5 W allele and elevated plasma TG levels (p>0.05) in the CHD group. This result was also present in the control group (p>0.05). Conclusion: The APO A5 gene polymorphism in S19W gene has no association with the high susceptibility to CHD.
Interactions of the Apolipoprotein A5 Gene Polymorphisms and Alcohol Consumption on Serum Lipid Levels  [PDF]
Rui-Xing Yin,Yi-Yang Li,Wan-Ying Liu,Lin Zhang,Jin-Zhen Wu
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0017954
Abstract: Little is known about the interactions of apolipoprotein (Apo) A5 gene polymorphisms and alcohol consumption on serum lipid profiles. The present study was undertaken to detect the interactions of ApoA5–1131T>C, c.553G>T and c.457G>A polymorphisms and alcohol consumption on serum lipid levels.
Analysis of apolipoprotein A5 gene polymorphisms in Hubei Han people

DING Yan,ZHU Ming-An,ZHOU You-Li,WANG Zhi-Xiao,YANG Gong-Li,

遗传 , 2007,
Abstract: Polymerase chain reaction-restriction fragments length polymorphism (PCR-RFLP) was used to explore the distribution of apolipoprotein A5 gene-1131T>C and 56C>G polymorphisms in 257 healthy Hubei Han people. The following results were calculated: the frequency of-1131TT genotype was 50.9%, far more than that of ?1131TC and ?1131CC genotypes (32.9% and 16.2%, respectively). The number of T allele carriers was higher than that of C carriers, and their respective frequencies were 0.675 and 0.325. There were 56GG and 56GC genotypes, but only 2 individuals in all subjects carried the G allele, the frequency of which was low than 5%. Furthermore, the frequency of genotypes and alleles in apoa5 ?1131T>C and 56C>G polymorphisms was clearly different from other races and areas. We conclude that the apoa5 ?1131T>C variation should be considered a single nucleotide polymorphism, but the 56C>G variation should be considered as a mutation instead.
Impacto de la apolipoproteína A5 en el riesgo cardiovascular: Modulaciones genéticas y ambientales Impact of apolipoprotein A5 on cardiovascular risk: Genetic and environmental modulation
Revista médica de Chile , 2010,
Abstract: Triglyceride concentrations are an independent risk factor for coronary heart disease. Apolipoprotein A5 gene (APOA5) has an important role determining triglyceride metabolism and it is a potential cardiovascular risk. However the mechanisms for these actions are not well-known. Despite the different allelic frequency of its major polymorphisms in different populations, multiple studies have shown consistent associations between these variants and fasting triglycerides. Variations in the APOA5 gene have also been associated with postprandial triglycerides, as well as with different sizes of lipoproteins and other markers. Moreover, some of the APOA5 gene variants have been associated with ischemic heart disease, stroke, and carotid intima media thickness, although the references on this issue are scanty and contradictory. This may be due to the presence of gene-environment interactions that have been poorly studied until now. Among the few studies that have examined the infuence of environmental factors on possible genetic variations, the most important are those that contemplate possible gene-diet interactions. However, the evidence is still scarce and more research is required in the feld of nutrigenomics. To understand the impact of this gene on cardiovascular disease, we review the genetic functionality and variability of APOA5, its associations with intermediate and fnal phenotypes and gene-environment interactions detected.
Association of the Apolipoprotein A5 Gene ?1131T>C Polymorphism with Serum Lipids in Korean Subjects: Impact of Sasang Constitution
Kwang Hoon Song,Sung-Gon Yu,Seongwon Cha,Jong Yeol Kim
Evidence-Based Complementary and Alternative Medicine , 2012, DOI: 10.1155/2012/598394
Abstract: Apolipoprotein A5 (APOA5) was identified as a strong modulator of serum lipids. Moreover, an APOA5 gene −1131T>C polymorphism has been associated with serum lipids, but the results are inconsistent according to ethnic and racial groups. We have genotyped and analyzed 1,619 outpatients of Korean oriental medicine hospitals who were classified into three Sasang constitution groups (SCGs), So-Yang (SY), So-Eum (SE), and Tae-Eum (TE). There were no significant difference in the distribution of the APOA5 −1131T>C genotype among the three SCGs. Subjects with the C allele in SY and TE showed significantly lower serum high-density lipoprotein cholesterol (HDL-C) and higher triglyceride (TG) levels than noncarriers of the C allele. These results show the differences in the prevalence of decreasing serum HDL-C and elevating serum TG levels along with APOA5 −1131T>C polymorphism according to SCG and suggest that SCG may act as a significant risk factor for hypo-HDL-C-emia and hypertriglyceridemia susceptibility.
Association between apolipoprotein A5 genepolymorphism and metabolic syndrome

- , 2015, DOI: 10.7652/jdyxb201505017
Abstract: 摘要:目的 探讨载脂蛋白A5(apoA5)基因-1131T>C(rs662799)及1259T>C(rs2266788)单核苷酸多态性与代谢综合征的关系。方法 采用聚合酶联反应及限制性片段长度多态性分析方法测定110例代谢综合征(MS)患者及110例健康对照组的apoA5基因-1131T>C(rs662799)及1259T>C(rs2266788)二位点的基因型,并检测血糖、血脂等指标,比较不同基因型与MS患病风险的关系。结果 -1131CC基因型携带者体重指数(BMI)、甘油三酯(TG)较TC、CC基因型升高,存在统计学差异(P<0.05)。1259CC基因型携带者TG、糖化血红蛋白(HBA??1C)较TC、CC基因型升高,存在统计学差异(P<0.05)。-1131CC基因型携带者发生MS的风险是TT基因型携带者的4.5倍(OR=4.504, 95% CI:1.766~11.490, P=0.002),且都得到统计学支持。结论 apoA5-1131T>C(rs662799)基因多态性与MS的发病可能相关;而apoA5 1259T>C(rs2266788)基因多态性与MS的发病无明显相关性。
ABSTRACT: Objective To investigate the relationship between apolipoprotein A5 (apoA5) gene and metabolic syndrome (MS). Methods Polymerase chain reaction and technique of restriction fragment length polymorphism were used to determine the genotypes of apoA5 -1131T>C (rs662799) and 1259T>C (rs2266788) in 110 patients with MS and 110 healthy control subjects. Results The levels of BMI and TG of subjects with apoA5-1131CC genotype were higher than those of subjects with TC and CC genotype (P<0.05). The levels of TG and HBA1C of subjects with apoA5 1259CC genotype were higher than those of subjects with TC and CC genotype (P<0.05). The risk of MS in subjects with apoA5-1131CC genotype was 4.5 times higher than that in subjects with TT genotype (OR=4.504, 95% CI: 1.766-11.490, P=0.002). Conclusion The genetic polymorphism of apoA5 -1131T>C (rs662799) may contribute to an increased risk of MS while that of apoA5 1259T>C(rs2266788) has no obvious relationship with the occurrence of MS
Lipid-bound apolipoproteins in tyrosyl radical-oxidized HDL stabilize ABCA1 like lipid-free apolipoprotein A-I
Mohammad A Hossain, Sereyrath Ngeth, Teddy Chan, Michael N Oda, Gordon A Francis
BMC Biochemistry , 2012, DOI: 10.1186/1471-2091-13-1
Abstract: In the current study we determined that tyrHDL requires functional ABCA1 for this enhanced activity. Like lipid-free apolipoprotein A-I (apoA-I), tyrHDL increases total and cell surface ABCA1, inhibits calpain-dependent and -independent proteolysis of ABCA1, and can be bound by cell surface ABCA1 in human skin fibroblasts. Additionally, tyrHDL apoproteins are susceptible to digestion by enteropeptidase like lipid-free apoA-I, but unlike lipid-bound apoA-I on HDL, which is resistant to proteolysis.These results provide the first evidence that lipid-bound apolipoproteins on the surface of spherical HDL particles can behave like lipid-free apoA-I to increase ABCA1 protein levels and activity.High density lipoprotein cholesterol (HDL-C) levels in human plasma correlate generally with protection against coronary heart disease, an effect believed to be due to multiple protective actions of HDL including stimulating the removal of excess cholesterol from cells and reducing inflammation in the artery wall [1]. The initial formation of HDL particles requires the membrane lipid transporter ATP-binding cassette transporter A1 (ABCA1) to mediate delivery of cellular lipids to HDL apolipoproteins. This reduces excess cholesterol stores in cells including arterial wall macrophages [2]. In addition to receiving cellular lipids, lipid-free apolipoprotein A-I (apoA-I) binds to and inhibits the degradation of ABCA1, further enhancing the formation of HDL particles [3,4]. Lipidated apoA-I on the surface of discoidal or spherical HDL particles, however, has a reduced affinity for ABCA1 and does not inhibit ABCA1 degradation [3,5]. These findings suggest structural motifs present in lipid-free but not lipid-bound apoA-I participate in ABCA1 binding and enhancement of ABCA1 cell surface stability.In addition to increasing ABCA1 expression transcriptionally, therapies that increase ABCA1 cell surface stability represent a potential means to increase HDL production. We previously showed th
Apolipoprotein A5 gene polymorphisms affect triglyceride metabolism and atherosclerotic cardiovascular diseases

LIU Yaqiong
, ZHAO Wang, ZHAO Shuiping

- , 2018, DOI: 10.11817/j.issn.1672-7347.2018.12.012
Abstract: 载脂蛋白A5(apolipoprotein A5,Apo A5)是载脂蛋白家族成员之一。它是三酰甘油代谢的重要调控因子,调控血浆中三酰甘油含量。Apo A5的基因多态性影响人体三酰甘油代谢,与动脉粥样硬化性心血管疾病密切相关,其中对–1131T>C,c.56C>G,c.553G>T研究最多
Apolipoprotein A1/C3/A5 haplotypes and serum lipid levels
Rui-Xing Yin, Yi-Yang Li, Chao-Qiang Lai
Lipids in Health and Disease , 2011, DOI: 10.1186/1476-511x-10-140
Abstract: A total of 1030 unrelated subjects (492 males and 538 females) aged 15-89 were randomly selected from our previous stratified randomized cluster samples. Genotyping of the ApoA1 -75 bp G>A, ApoC3 3238C>G, ApoA5 -1131T>C, ApoA5 c.553G>T and ApoA5 c.457G>A was performed by polymerse chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing. Pair-wise linkage disequilibria and haplotype analysis among the five SNPs were estimated.The levels of high-density lipoprotein cholesterol (HDL-C) and ApoA1 were lower in males than in femailes (P < 0.05 for each). The allelic and genotypic frequencies of the SNPs were no significant difference between males and females except ApoC3 3238C>G. There were 11 haplotypes with a frequency >1% identified in the cluster in our population. At the global level, the haplotypes comprised of all five SNPs were significantly associated with all seven lipid traits. In particular, haplotype G-G-C-C-A (6%; in the order of ApoA5 c.553G>T, ApoA5 c.457G>A, ApoA5 -1131T>C, ApoC3 3238C>G, and ApoA1 -75bp G>A) and G-A-T-C-G (4%) showed consistent association with total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), ApoA1, ApoB, and the ApoA1/ApoB ratio. In addition, carriers of haplotype G-G-T-C-G (26%) had increased serum concentration of HDL-C and ApoA1, whereas carriers of G-G-C-G-G (15%) had high concentrations of TC, triglyceride (TG) and ApoB. We also found that haplotypes with five SNPs explain much more serum lipid variation than any single SNP alone, especially for TG (4.4% for haplotype vs. 2.4% for -1131T>C max based on R-square) and HDL-C (5.1% for haplotype vs. 0.9% for c.553G>T based on R-square). Serum lipid parameters were also correlated with genotypes and several environment factors.Several common SNPs and their haplotypes in the ApoA1/C3/A5 gene cluster are closely associated with modifications of serum lipid parameters in the general Chinese
Association of the apolipoprotein A5 gene -1131 T>C polymorphism with fasting blood lipids: a meta-analysis in 37859 subjects
Tongfeng Zhao, Jiangpei Zhao
BMC Medical Genetics , 2010, DOI: 10.1186/1471-2350-11-120
Abstract: We limited our analysis to the following four blood lipid variables: total cholesterol (TC), triglycerides (TG), low density lipoprotein cholesterol (LDL-C), and high-density lipoprotein cholesterol (HDL-C). Subjects were confined to adults who were at least 18 years old. A dominant model was used for this meta-analysis. 37 studies with 37859 subjects were included in this meta-analysis.The results showed that the carriers of -1131C allele have higher blood TC and TG than the non-carriers: standardized mean difference (SMD) = 0.08, 95% confidence interval (CI, 0.05, 0.11), P < 0.00001, Pheterogeneity = 0.42, and SMD = 0.31, 95% CI (0.27, 0.34), P < 0.00001, Pheterogeneity = 0.0003, respectively. Significant association between the -1131 T>C polymorphism and lower blood HDL-C was also detected under the dominant model: SMD = -0.17, 95% CI (-0.21, -0.14), P < 0.00001, Pheterogeneity = 0.003.Our meta-analysis supports the strong association of the APOA5 -1131 T>C polymorphism with higher levels of TC and TG, and lower levels of HDL-C.Hyperlipidemia, which is considered to be one of the most important risk factors for coronary heart disease (CHD) and stroke, is characterized by the derangements of one or many of the lipids: elevations of total cholesterol (TC), low density lipoprotein cholesterol (LDL-C) and/or triglycerides (TG), or low levels of high-density lipoprotein cholesterol (HDL-C) [1]. Although a large number of studies have tried to elucidate the pathogenesis of the disease, the exact underlying mechanisms are still not completely understood [2]. In recent years, much has been learned about specific genes that influence hyperlipidemia [3]. However, due to various reasons, including considerable heterogeneity of the disease, the identification of susceptibility genes is difficult and most associations have not been replicated [3].More recently, apolipoprotein A5 (APOA5) was identified as a strong modulator of blood lipids [4]. The APOA5 is predominantly synth
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