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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.
Effects of APOA5 ?1131T>C (rs662799) on Fasting Plasma Lipids and Risk of Metabolic Syndrome: Evidence from a Case-Control Study in China and a Meta-Analysis  [PDF]
Chunxiao Xu, Rongpan Bai, Dandan Zhang, Zhenli Li, Honghong Zhu, Maode Lai, Yimin Zhu
PLOS ONE , 2013, DOI: 10.1371/journal.pone.0056216
Abstract: The apolipoprotein A5 (APOA5) gene ?1131T>C (rs662799) has been suggested to be involved in the pathway of lipid homeostasis and the development of metabolic syndrome (MetS). However, the findings are not consistent. To systematically evaluate the associations between ?1131T>C polymorphism and fasting lipid parameters and the risk of MetS, we conducted a case-control study in a Chinese population and a meta-analysis. The findings from 1840 Chinese participants indicated that the C allele carriers had significantly higher fasting total cholesterol (TC), triglycerides (TG) and lower HDL-cholesterol (HDL-C) than the TT homozygotes carriers. The ?1131C allele was also found to be significantly associated with increased risk of MetS (OR = 1.40, 95% confidence interval (CI) = 1.15, 1.69) compared to the TT homozygotes. In the meta-analysis of 51,868 participants from 46 East Asian studies, 26 European studies and 19 studies of other ethnic groups, the ?1131C allele was associated with higher fasting TC (weighted mean difference (WMD) = 0.08 mmol/L, 95% CI = 0.05, 0.10, P = 1.74×10?9), TG (WMD = 0.30 mmol/L, 95% CI = 0.26, 0.33, P = 1.87×10?55), LDL-cholesterol (LDL-C) (WMD = 0.04 mmol/L, 95% CI = 0.02, 0.07, P = 0.002), and lower HDL-C (WMD = ?0.05 mmol/L, 95% CI = ?0.06,?0.04, P = 1.88×10?21), respectively. Based on 12 studies with 5,573 MetS cases and 8,290 controls from 5 East Asian studies, 5 European studies and 2 studies of other ethnic groups, the ?1131C allele was associated with increased risk of MetS with an OR (95% CI) = 1.33 (1.16, 1.53) in the overall population, 1.43 (1.29, 1.58) in East Asian and 1.30 (0.94, 1.78) in European populations. In conclusion, the ?1131C allele may be associated with elevated levels of fasting TG, TC, LDL-C and decreased HDL-C, and increased risk of MetS, especially in East Asians.
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.
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
Lipoprotein lipase activity and mass, apolipoprotein C-II mass and polymorphisms of apolipoproteins E and A5 in subjects with prior acute hypertriglyceridaemic pancreatitis
Inmaculada Coca-Prieto, Pedro Valdivielso, Gunilla Olivecrona, María Ariza, José Rioja, Pilar Font-Ugalde, Carlota García-Arias, Pedro González-Santos
BMC Gastroenterology , 2009, DOI: 10.1186/1471-230x-9-46
Abstract: Twenty-four survivors of acute hypertriglyceridaemic pancreatitis (cases) and 31 patients with severe hypertriglyceridaemia (controls) were included. Clinical and anthropometrical data, chylomicronaemia, lipoprotein profile, postheparin lipoprotein lipase mass and activity, hepatic lipase activity, apolipoprotein C II and CIII mass, apo E and A5 polymorphisms were assessed.Only five cases were found to have LPL mass and activity deficiency, all of them thin and having the first episode in childhood. No cases had apolipoprotein CII deficiency. No significant differences were found between the non-deficient LPL cases and the controls in terms of obesity, diabetes, alcohol consumption, drug therapy, gender distribution, evidence of fasting chylomicronaemia, lipid levels, LPL activity and mass, hepatic lipase activity, CII and CIII mass or apo E polymorphisms. However, the SNP S19W of apo A5 tended to be more prevalent in cases than controls (40% vs. 23%, NS).Primary defects in LPL and C-II are rare in survivors of acute hypertriglyceridaemic pancreatitis; lipase activity measurements should be restricted to those having their first episode during chilhood.Among patients with acute pancreatitis, 1.3 to 3.5% are due to hypertriglyceridaemia, also known as hypertriglyceridaemic pancreatitis [1,2], some times relapsing and being even more severe than lithiasic acute pancreatitis [3]. Acute hypertriglyceridaemic pancreatitis forms part of the Chylomicronaemia Syndrome, defined as the presence of one or more of the typical signs (eruptive xanthomas, lipidaemia retinalis, recurrent abdominal pain or acute pancreatitis) in a patient with plasma triglyceride concentrations >22.58 mmol/L[4].Genetic causes of the syndrome are rare and include deficiency of lipoprotein lipase (LPL), apolipoprotein C-II, and familial inhibitor of LPL. Other genes are also involved in the catabolism of chylomicrons, such as those for apolipoprotein E, apolipoprotein A-V [5] and glycosylphosphatidyli
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.
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.
Comparison on the plasma apolipoprotein-A5,insulin resistance and the secretion function of islet β-cell between the subjects with impaired fasting glucose and impaired glucose tolerance  [cached]
Yan YANG,Hua-cong DENG,Jian LONG,Yan-xin SU
Medical Journal of Chinese People's Liberation Army , 2011,
Abstract: Objective To compare the levels of apolipoprotein A5(apoA5),insulin resistance(IR) and the secretion function of islet β-cells between subjects with impaired fasting glucose and impaired glucose tolerance,and to investigate the underlying pathogenesis.Methods Twenty-three patients with impaired fasting glucose(IFG group),24 with impaired glucose tolerance(IGT group),and 30 individuals with normal glucose tolerance(NGT group,as control) were enrolled in present study.All subjects underwent intravenous glucose tolerance test(IVGTT).Fasting apoA5 was assayed by ELISA.Fasting free fatty acid and the free fatty acid at 120 min after glucose loading were measured by colorimetry.Triglyeride(TG),high density lipoprotein cholesterol(HDL-C),low density lipoprotein cholesterol(LDL-C),total cholesterol(TC),fasting plasma glucose(FPG) and plasma glucose at 2 hours after glucose loading(2hPG) were determined.Homeostasis model assessments for insulin resistance(HOMA-IR) and for β-cell function(HOMA-B) were calculated.The relationships between apoA5 and those indexes mentioned above were analyzed.Results The levels of apoA5,AIR0-10,HOMA-B were significantly lower in IFG and IGT groups than in NGT group(P < 0.05),the levels of TG,FFA,2hFFA,HOMA-IR and FINS were significantly higher in IFG and IGT groups than in NGT group(P < 0.05).The levels of apoA5,AIR0-10,HOMA-B,FINS and 2hPG were significantly lower in IFG group than in IGT group(P < 0.05),the levels of TG,FFA,2hFFA,HOMA-IR and FPG increased significantly in IFG group than in IGT group(P < 0.05).ApoA5 was positively correlated with AIR0-10,HOMA-B and HDL-C,and negatively correlated with TG,FFA,2hFFA,LDL-C,FPG,2hPG,FINS,HOMA-IR,BMI and WHR.Stepwise multiple regression analysis showed that AIR0-10,TG,FFA and HOMA-IR were independent factors of apoA5.Conclusions The insulin resistance and impaired secretion function of islet β-cell are more severe in the subjects with IFG than those with IGT.It is conjectured that the subjects with IFG have lower level of plasma apoA5,thus by raising the level of plasma apoA5 might be a possible pathway to prevent and delay IFG to develop into diabetes mellitus.
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
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