Three Novel Mutations in the Apolipoprotein E Gene in a Sample of Individuals with Type 2 Diabetes Mellitus

Stephens, Jeffrey W.; Sozen, Mert; Whittall, Ros; Bedford, Dorothy; Acharya, Jayshree; Hurel, Steven J.; Humphries, Steve E.

doi:10.1373/clinchem.2004.040121

Cited by 7 publications

(5 citation statements)

References 25 publications

(20 reference statements)

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“…These findings are in agreement with previous reports [10,24]. So, the frequency of apo E polymorphism could be reasonable different according to environmental factors and lifestyle behaviors, obesity, gender, population related differences (such as geographical differences), presence of CHD, and even undertreatment lipid lowering drugs [25-31]. …”

Section: Discussionsupporting

confidence: 92%

Apolipoprotein E gene polymorphism and its effect on anthropometric measures in normoglycemic subjects and type 2 diabetes

Tabatabaei‐Malazy

Fakhrzadeh

Qorbani

et al. 2012

J Diabetes Metab Disord

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BackgroundApolipoprotein E (apo E) plays a major role in lipid metabolism, obesity and accordingly in development of diabetes and coronary heart disease (CHD). Our main objective was to evaluate the association between apo E gene polymorphism with anthropometric measures.MethodsParticipants were selected from zone 17 Tehran/Iran. We assessed height, weight, body mass index (BMI), waist circumference (WC), blood pressure, serum fasting blood sugar, total cholesterol and triglycerides. Genotyping for apo E gene polymorphism was carried out using PCR-RFLP technique.ResultsAmong total study population (n=311), 156 subjects were diabetic. The apo E3/E3 was the most common genotype in our population while E2 and E4 alleles had lower frequencies, respectively. After adjustment for diabetes, the apo E2 and E4 alleles were significantly associated with hypercholesterolemia and WC, respectively (p= 0.009, 0.034). This association was also related to sex and age. The probability of having abdominal obesity in E4 allele carriers was increased from 0.22 to 8.12 in women and to 3.08 in age ≥ 50 years.ConclusionsApo E polymorphism had significant influences on WC and total cholesterol level in patients with type 2 diabetes. This study highlights the importance of lifestyle modifications which may be more beneficial in hypercholesterolemic women carriers of E2 and E4 alleles concomitant central obesity.

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Section: Discussionsupporting

confidence: 92%

Apolipoprotein E gene polymorphism and its effect on anthropometric measures in normoglycemic subjects and type 2 diabetes

Tabatabaei‐Malazy

Fakhrzadeh

Qorbani

et al. 2012

J Diabetes Metab Disord

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“…We suggest that apoE phenotyping still has a role to play in the identification of individuals at risk for dyslipidaemia when mutations in the apoE gene are identified. 148…”

Section: Apolipoprotein E Isoforms: Phenotyping and Genotypingmentioning

confidence: 99%

Apolipoproteins: metabolic role and clinical biochemistry applications

2011

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Lipoprotein metabolism is dependent on apolipoproteins, multifunctional proteins that serve as templates for the assembly of lipoprotein particles, maintain their structure and direct their metabolism through binding to membrane receptors and regulation of enzyme activity. The three principal functions of lipoproteins are contribution to interorgan fuel (triglyceride) distribution (by means of the fuel transport pathway), to the maintenance of the extracellular cholesterol pool (by means of the overflow pathway) and reverse cholesterol transport. The most important clinical application of apolipoprotein measurements in the plasma is in the assessment of cardiovascular risk. Concentrations of apolipoprotein B and apolipoprotein AI (and their ratio) seem to be better markers of cardiovascular risk than conventional markers such as total cholesterol and LDL-cholesterol. Apolipoprotein measurements are also better standardized than the conventional tests. We suggest that measurements of apolipoprotein AI and apolipoprotein B are included as a part of the specialist lipid profile. We also suggest that lipoprotein (a) should be measured as part of the initial assessment of dyslipidaemias because of its consistent association with cardiovascular risk. Genotyping of apolipoprotein E isoforms remains useful in the investigation of mixed dyslipidaemias. Lastly, the role of postprandial metabolism is increasingly recognized in the context of atherogenesis, obesity and diabetes. This requires better markers of chylomicrons, very-low-density lipoproteins and remnant particles. Measurements of apolipoprotein B48 and remnant lipoprotein cholesterol are currently the key tests in this emerging field.

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“…The frequency of ApoE polymorphism could be reasonable different according to environmental factors and lifestyle behaviors, obesity, gender, population related differences (such as geographical differences), presence of coronary heart disease, atherosclerosis and even inadequate lipid lowering drugs . Use of 24‐h urine is not convenient for the patient or for the healthcare professionals managing the patient.…”

Section: Discussionmentioning

confidence: 99%

Apolipoprotein E genotyping in Egyptian diabetic nephropathy patients

et al. 2015

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Research for the causes of diabetic nephropathy has focused on the study of the affected familial disease clusters. The polymorphism in apolipoprotein E (ApoE) has been linked to the development of diabetic nephropathy (DN) in association with hyperlipidemia. The aim of this study was to evaluate the association of this condition with ApoE gene polymorphism connected with DN in diabetic Egyptian subjects. One hundred and thirty-five patients were enrolled in the study, they were divided into three groups: 45 diabetic patients; 45 DN patients and 45 healthy control group. Clinical examination and routine laboratory investigations with serum lipids and urinary microalbumin were done. Peripheral blood leukocytes from all were examined by the polymerase chain reaction for polymorphisms in ApoE gene. Our results revealed significant difference between Apo E genotype frequencies among all studied groups. Genotypes e2e3 and e2e4 were reported to be significantly higher in diabetes as compared to control individuals while genotype e3e3 was higher in control as compared to diabetes. Among the entire diabetic group e2e3 was highly detected in DN. Regarding allelic frequency e2 allele was significantly detected in DN patients as compared to diabetic patients and it was the lowest in control individuals. In conclusion Apo e2 mutations may have a role in increasing the development of DN among the Egyptian individuals. V C 2015 IUBMB Life, 68(1): [58][59][60][61][62][63][64] 2016

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Three Novel Mutations in the Apolipoprotein E Gene in a Sample of Individuals with Type 2 Diabetes Mellitus

Cited by 7 publications

References 25 publications

Apolipoprotein E gene polymorphism and its effect on anthropometric measures in normoglycemic subjects and type 2 diabetes

Apolipoprotein E gene polymorphism and its effect on anthropometric measures in normoglycemic subjects and type 2 diabetes

Apolipoproteins: metabolic role and clinical biochemistry applications

Apolipoprotein E genotyping in Egyptian diabetic nephropathy patients

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