Hellenic Postprandial Lipemia Study (HPLS): Rationale and design of a prospective, open-label trial to determinate the prevalence of abnormal postprandial lipemia as well as its interaction with statins in patients at high- and very high-risk for cardiovascular disease.

Fasting and postprandial hypertriglyceridemia have been related to cardiovascular (CV) disease. We describe the design and methods of the Hellenic Postprandial Lipemia Study (HPLS, NCT02163044), a prospective, open-label, randomized, multicentre trial. The study will recruit 900 participants from 8 centers, and aims to determinate the prevalence of abnormal postprandial lipemia in patients at high- and very high-risk for CV disease, the efficacy of statin treatment and other medications on postprandial lipemia, and the interaction between postprandial lipemia and CV risk during a treatment period of 3 years. Participants will be screened in an outpatient lipid clinic setting. METHODS: High- and very high-risk individuals with fasting triglycerides (TGs) <220 mg/dL (2.5 mmol/L) will be included. At baseline visit demographic and clinical characteristics will be recorded. At the first follow-up visit (within 2-4 weeks from baseline), plasma TG concentrations will be measured, following an overnight 12 h fasting period, before and 4 h after ingestion of a commercially available oral fat tolerance test (OFTT) meal. Then a statin will be prescribed. At the second follow-up visit (within 3-5 month from baseline), plasma TG concentrations will be measured again following an overnight 12 h fasting period, before and 4 h after ingestion of OFTT and then patients will be followed annually for 3 years. CONCLUSION: HPLS is the largest trial assessing the effects of statin therapy on postprandial lipemia. Its results will provide useful insight on the prevalence of postprandial lipemia, the efficacy of statins regarding postprandial lipemia and the clinical significance of this effect. Clinical trial registration information The HPLS trial is registered with clinicaltrials.gov (NCT Identifier: NCT02163044).

A novel de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy.

Benetou C, Papailiou S, Maritsi D, Anagnostopoulou K, Kontos H, Vartzelis G. A novel de novo KCNQ2 mutation in a child with treatmentresistant early-onset epileptic encephalopathy. Turk J Pediatr 2019; 61: 279-281. Mutations in KCNQ2 gene, encoding for voltage-gated K+ channel subunit, may result in a wide spectrum of early-onset epileptic disorders. The phenotype of the disease varies from `benign familial neonatal seizures` to `severe epileptic encephalopathies`. In this report, we present a novel mutation [namely: c.683A > G (p.His228Arg)], as a presumable cause of severe infantile-onset neonatal seizures, in a 3-month old boy. The seizures have been poorly responsive to various pharmacological treatments, with phenytoin and carbamazepine presenting with the most favourable results so far. The study of our patient could help to further clarify the clinical manifestations of KCNQ2 mutations, revealing a previously unreported mutation.

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders mainly characterized by progressive spasticity of the lower limbs. Adult case series dominate the literature, and there have been only a few studies in children. The purpose of this study is to describe our experience with pediatric HSP in Greece. We report the clinical and genetic findings in our patients and aim to offer insights into the diagnostic difficulties of childhood-onset disease. A series of 15 Greek children affected by pure HSP underwent extensive diagnostic investigations. Molecular analysis included whole exome sequencing (WES) or consecutive screening of candidate genes ATL1, SPAST, REEP1, and CYP7B1. WES performed in three cases yielded previously reported mutations in ATL1 and CYP7B1, and a variant c.397C>T of unknown significance in SPG7. Candidate gene screening performed in the remaining patients identified previously reported mutations in ATL1 (2), SPAST (2), and REEP1 (1), and two novel mutations, c.1636G>A and c.1413+3_6delAAGT, in SPAST. In six cases, the mutations were inherited from their parents, while in three cases, the mutations were apparently de novo. Our data confirm the genetic heterogeneity of childhood-onset pure HSP, with SPG4/SPAST and SPG3A/ATL1 being the most frequent forms. De novo occurrence of HSP does not seem to be uncommon. Candidate gene studies guided by diagnostic algorithms and WES seem both to be reasonable genetic testing strategies.

35-Year Follow-Up of a Case of Ring Chromosome 2: Array-CGH Analysis and Literature Review of the Ring Syndrome.

Côté et al. [1981] suggested that ring chromosomes with or without deletions share a common pattern of phenotypic anomalies, regardless of which chromosome is involved. The phenotype of this 'general ring syndrome' consists of growth failure without malformations, few or no minor anomalies, and mild to moderate mental retardation. We reconsidered the ring chromosome 2 case previously published by Côté et al. [1981], and we characterized it by array CGH, polymorphic markers as well as subtelomere MLPA and FISH analysis. A terminal deletion (q37.3qter) of maternal origin of the long arm of the ring chromosome 2 was detected and confirmed by all the above-mentioned methods. Ring chromosome 2 cases are exceedingly rare. Only 18 cases, including the present one, have been published so far, and our patient is the longest reported survivor, with a 35-year follow-up, and the third case characterized by array-CGH analysis.

Rare case of XX/XY mosaicism and trisomy 13 in early prenatal diagnosis.

Coexistence of XX/XY sex mosaicism and autosomal trisomy in prenatal diagnosis is particularly rare. Herein, we report the first, to our knowledge, case of a fetus with cyclopia, ambiguous genitalia and a 47,XX,+13,inv9[47]/47,XY,+13[13] karyotype detected at 13 weeks of gestation after chorionic villus sampling. Molecular analysis after prenatal diagnosis suggests that this is a case of sex mosaicism coexisting with trisomy 13, rather than chimera.

Diagnostic value of postprandial triglyceride testing in healthy subjects: a meta-analysis.

BACKGROUND/AIM: Triglycerides (TGs) are measured in studies evaluating changes in non-fasting lipid profiles after a fat tolerance test (FTT); however, the optimal timing for TG measurements after the oral fat load is unclear. The aim of this study was to evaluate how non-fasting TG levels vary after an oral FTT in healthy subjects. METHODS: This meta-analysis included 113 studies with >5 participants of Caucasian race that were indexed in PubMed from its inception through March 2010, using the search term "postprandial lipemia". We only included studies that provided mean values and standard deviation (SD) (or standard error of the mean) for TG measurements at baseline (=fasting) and for at least one other time-point. Exclusion criteria included uncommon sampling time-points after the FTT, baseline TGs≥2.0 mmol/L (≥177mg/dl), and a body mass index ≥30kg/m(2). RESULTS: All studies combined, weighted mean±SD TG values in mmol/L were 1.25±0.32 fasting, 1.82±0.40 at 2 h, 2.31±0.62 at 4 h, 1.87±0.63 at 6 h, and 1.69±0.80 at 8 h. After stratifying studies based on fat quantity in the test meal (<40, ≥40-<50, ≥50-<60, ≥60-<70, ≥70-<80, ≥80-<90, ≥90-<100, ≥100-<110, ≥110-120, ≥120 g), the highest standardized mean difference in TG levels from fasting levels was found in those having an oral fat load of ≥70 g and <80 g, and at 4 h (difference=1.74 mmol/L; p<0.001). CONCLUSION: The 4 h time-point after an oral fat load during a FTT was the most representative measurement of TGs. The highest standardized mean difference of TGs was found after a meal containing 70-79g of fat. The relevance of these two key parameters determined in healthy subjects should be considered for further developments of an oral FFT for clinical purposes.

Assessment and clinical relevance of non-fasting and postprandial triglycerides: an expert panel statement.

An Expert Panel group of scientists and clinicians met to consider several aspects related to non-fasting and postprandial triglycerides (TGs) and their role as risk factors for cardiovascular disease (CVD). In this context, we review recent epidemiological studies relevant to elevated non-fasting TGs as a risk factor for CVD and provide a suggested classification of non-fasting TG concentration. Secondly, we sought to describe methodologies to evaluate postprandial TG using a fat tolerance test (FTT) in the clinic. Thirdly, we discuss the role of non-fasting lipids in the treatment of postprandial hyperlipemia. Finally, we provide a series of clinical recommendations relating to non-fasting TGs based on the consensus of the Expert Panel: 1). Elevated non-fasting TGs are a risk factor for CVD. 2). The desirable non-fasting TG concentration is <2 mmol/l (<180 mg/dl). 3). For standardized postprandial testing, a single FTT meal should be given after an 8 h fast and should consist of 75 g of fat, 25 g of carbohydrates and 10 g of protein. 4). A single TG measurement 4 h after a FTT meal provides a good evaluation of the postprandial TG response. 5). Preferably, subjects with non-fasting TG levels of 1-2 mmol/l (89-180 mg/dl) should be tested with a FTT. 6). TG concentration ≤ 2.5 mmol/l (220 mg/dl) at any time after a FTT meal should be considered as a desirable postprandial TG response. 7). A higher and undesirable postprandial TG response could be treated by aggressive lifestyle modification (including nutritional supplementation) and/or TG lowering drugs like statins, fibrates and nicotinic acid.

Familial hypercholesterolemia and triglyceride metabolism.

Familial hypercholesterolemia (FH) is a common autosomal disorder associated with hypercholesterolemia which usually results from a mutation in the coding region of the low density lipoprotein (LDL) receptor (R) activity. Only 20% of untreated heterozygote (h) FH men reach 70 years of age. Therefore, the diagnosis of hFH is a better predictor of coronary heart disease than risk-based algorithms. Fasting and postprandial hypertriglyceridemia are also considered as risk factors for atherosclerosis. The plasma triglycerides (TG)s are formed from two major sources; intestinally-derived chylomicrons and hepatically-derived very low density lipoproteins (VLDL). Potentially, atherogenic remnants of TG-rich lipoproteins accumulate in the postprandial state. In addition, TG-rich lipoproteins may promote the formation of atherogenic small dense LDL. In FH subjects, lipoprotein metabolism seems to be impaired and may contribute to premature atherosclerosis. This was documented in many studies in which mice lacking LDLR present hypercholesterolemia, increased plasma TG-rich lipoprotein remnants and develop premature spontaneous atherosclerosis. In this review, we focus on the current knowledge regarding TG metabolism on a selected clinically condition such as FH. Variation in clinical characteristics has been described between studies which may occur due to dissimilarity in the molecular defect of FH. Additionally, the relationship between TG levels in FH subjects and the development of atherosclerosis, as well as the appropriate treatment for these patients is analysed.

Cholesteryl ester transfer protein gene polymorphisms and longevity syndrome.

PURPOSE: High levels of high density lipoprotein (HDL) cholesterol are associated with a decreased risk of coronary heart disease (CHD). Subjects with high levels of HDL cholesterol (>70 mg/dl; 1.79 mmol/l) as well as high levels of low density lipoprotein (LDL) cholesterol, could represent a group with longevity syndrome (LS). Since HDL particles are influenced by cholesteryl ester transfer protein (CETP) activity, it is worth studying the CETP polymorphism. The aim of the study was to detect whether 2 genetic variants of the CETP are associated with the LS. SUBJECTS AND METHODS: The study population consisted of 136 unrelated men and women with no personal and family history of CHD; 69 met the criteria for LS and 67 did not meet these criteria and had "normal" HDL cholesterol (>40 and <70 mg/dl; >1.03 and <1.79 mmol/l). All patients were genotyped for the TaqIB and I405V polymorphisms. RESULTS: The B2 allele frequency of TaqIB polymorphism was higher in the LS in comparison with the non-LS group (p=0.03) whereas B1 allele frequency was higher in the non-LS group (p=0.03). CONCLUSIONS: Gene polymorphisms could help decide whether individuals who have increased levels of both LDL cholesterol and HDL cholesterol require treatment. Some of the prerequisites could include that subjects with LS should not only have very high levels of HDL cholesterol but also favorable gene polymorphisms. However, further investigations with a larger sample and including other gene polymorphisms, are needed.

Efficacy of simvastatin or ezetimibe on tissue factor, von Willebrand's factor and C-reactive protein in patients with hypercholesterolaemia.

BACKGROUND: Statins have favourable effects on lipid profiles, decrease total mortality and have many pleiotropic effects. AIMS: To determine and compare the pleiotropic effects of simvastatin and ezetimibe in dyslipidaemic patients. METHODS: Forty-four patients (20 postmenopausal women) with low-density lipoprotein cholesterol >130 mg/dL (or >100mg/dL in patients with coronary artery disease or its equivalent) were treated with simvastatin 10mg daily (n = 21) or ezetimibe 10mg daily (n = 23). In blood samples taken before and three months after treatment, we measured the concentration of total cholesterol, triglycerides, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, apolipoprotein A, apolipoprotein B, lipoprotein(a), homocysteine, tissue factor, von Willebrand's factor and C-reactive protein. RESULTS: Baseline lipid profiles and haematological variables were similar in both groups. Simvastatin and ezetimibe decreased the concentrations of total cholesterol (262 to 189 mg/dL, p < 0.001, and 268 to 220 mg/dL, p = 0.001, respectively), low-density lipoprotein cholesterol (177 to 114 mg/dL, p < 0.001 and 196 to 146 mg/dL, p < 0.001, respectively) and C-reactive protein (1.2 to 0.3 mg/dL, p = 0.001 and 2.8 to 0.8 mg/dL, p = 0.005, respectively). Simvastatin also reduced the concentration of apolipoprotein B (125 to 93 mg/dL, p < 0.001). CONCLUSION: Both drugs improved lipid profiles and C-reactive protein concentration. However, no influence was found on tissue factor or von Willebrand's factor. Our results suggest that C-reactive protein lowering may occur in conjunction with low-density-lipoprotein cholesterol lowering and not through a specific statin pleiotropic anti-inflammatory effect.

Postprandial metabolic heterogeneity in men with primary dyslipidaemia.

INTRODUCTION: Familial combined hyperlipidaemia (FCH) and familial hypercholesterolaemia (FH) have been strongly linked to premature coronary artery disease. Postprandial hypertriglyceridaemia is also associated with atherosclerotic disease. We evaluated the postprandial lipaemia in men with FCH and FH and compared them to a group of healthy men. MATERIAL AND METHODS: The study population consisted of 83 men: 34 FCH, 29 FH and 20 healthy. The FCH and FH groups were further divided into five subgroups, according to their lipid phenotype: FCH-IIA (n = 13), FCH-IIB (n = 10), FCH-IV (n = 11), FH-IIA (n = 21) and FH-IIB (n = 8). Postprandial lipaemia was evaluated by the areas under the curve for triglyceride (TG) concentrations (TG-AUC). RESULTS: The TG levels after oral fat tolerance test were significantly higher in FCH, compared to FH and healthy groups (TG-AUC in mg/dl/h; 2678 ±1415 vs. 1503 ±1147 and 1011 ±652 respectively, p < 0.001). The postprandial response was higher in FCH-IV and FCH-IIB, compared to FCH-IIA (TG-AUC in mg/dl/h; 3220 ±824 or 3409 ±770 vs. 1863 ±577 respectively, p < 0.001, for both comparisons). The FCH-IIA group showed higher postprandial TG levels when compared to FH-IIA (TG-AUC in mg/dl/h; 1863 ±577 vs. 1374 ±428 respectively, p = 0.008). There were no significant differences between FH-IIB and FCH-IIB subgroups. There was a significant correlation (r = 0.907, p < 0.001) between the postprandial TG-AUC and fasting TG levels in all FCH subjects. CONCLUSIONS: All phenotypes of FCH and the FH IIB phenotype demonstrate an exaggerated postprandial response that could partially contribute to the high cardiovascular risk. These patients should be identified and treated early with the appropriate hypolipidaemic agents.

Cholesteryl ester transfer protein gene and effectiveness of lipid lowering of atorvastatin.

Cholesteryl ester transfer protein (CETP) plays a key role in lipid metabolism. Thus, variations in the CETP gene may be clinically relevant. Newly started atorvastatin users (n=212) were genotyped for CETP genetic variants (TaqIB and I405V). Homozygotes for B1 allele of TaqIB polymorphism had lower plasma high density lipoprotein cholesterol (HDL-C) compared with B1B2 or B2B2 genotypes (p=0.03, for each). Homozygotes for I allele of I405V polymorphism had lower plasma HDL-C compared with IV or VV genotypes (p=0.001, for each). In the whole population, the B1 carriers increased HDL-C levels by 4% after atorvastatin treatment, compared with B2 carriers, where a 4% decrease occurred (p=0.03). Also homozygotes for B1 allele decreased triglyceride levels to a lesser, though not significant, degree compared to B1B2 or B2B2 genotypes. CETP TaqIB or I405V polymorphisms seem to modify the lipid lowering response to atorvastatin treatment. This knowledge may help design more effective hypolipidaemic treatment.

Mortality after first myocardial infarction in Greek patients: a 4-year follow-up study.

BACKGROUND: Death associated with coronary heart disease (CHD) depends in part on the time since the myocardial infarction (MI) and modification of risk factors. METHODS: This observational, retrospective 4-year follow-up study consisted of 804 patients (628 men). The participants completed a questionnaire reporting diet, demographic factors, personal behavior (smoking, physical activity), anthropometry, prior medical conditions (hypertension, diabetes mellitus), and recent medication. RESULTS: During 48 months of follow-up, 12% of men and 15% of women died. Older age, longer duration of smoking, and frequency of exercise were significantly different between survivors and the deceased (P = .014, P = .014, P = .001, respectively). Multivariate analysis revealed associations with years of smoking (odds ratio, OR: 1.10, P = .025), treatment with nitrates (OR: 4.81, P = .024), and increased frequency of exercise (OR: 0.42, P = .013), adjusting for age and gender. CONCLUSIONS: We should emphasize cessation of smoking and increased physical activity in MI survivors. Antismoking programs should start at an early age.

Sex-associated effect of CETP and LPL polymorphisms on postprandial lipids in familial hypercholesterolaemia.

BACKGROUND: This study assessed the gender-specific influence of the cholesteryl ester transfer protein (TaqIB, I405V) and lipoprotein lipase (S447X) polymorphisms on the response to an oral fat tolerance test in heterozygotes for familial hypercholesterolaemia. METHODS: We selected and genotyped 80 men and postmenopausal women heterozygous for familial hypercholesterolaemia (main group) as well as 11 healthy control subjects. Patients were subgrouped based on their response to oral fat tolerance test. The oral fat tolerance test was defined as pathological when postprandial triglyceride concentration was higher than the highest triglyceride concentration observed in healthy subjects (220 mg/dl) at any time (2, 4, 6 or 8 h). RESULTS: In the pathological subgroup, men had significantly higher incremental area under the curve after oral fat tolerance test than postmenopausal women. Furthermore, multivariate analysis revealed a gender association of TaqIB and I405V influence on postprandial lipaemia in this subgroup. CONCLUSION: In conclusion, it seems that gender and TaqIB polymorphism of the cholesteryl ester transfer protein gene were both associated with the distribution of triglyceride values after oral fat tolerance test, only in subjects with a pathological response to oral fat tolerance test. Specifically, men carrying the B2 allele of the TaqIB polymorphism showed a higher postprandial triglyceride peak and a delayed return to basal values compared with women carrying B2. However, further investigations in larger populations are required to replicate and confirm these findings.

Apolipoprotein E gene polymorphism and gender.

Many studies have shown that the prevalence and onset of coronary heart disease (CHD) is sex-dependent. CHD prevalence is lower in women than in men at all ages. Furthermore, women's age of CHD onset seems to be 10 yr later. This is widely attributed to the fact that men have less favorable CHD risk factors (eg, plasma lipid profile) compared to women. Mean levels of protective high density lipoprotein cholesterol are lower, while triglyceride levels are higher in men than in women. It is possible that many of the genes involved in lipid metabolism, such as Apolipoprotein (Apo) E, as well as their polymorphisms, may be expressed in a sexually dimorphic manner. The human Apo E gene is polymorphic, encoding one of 3 common epsilon (epsilon) alleles (epsilon 2, epsilon 3, epsilon 4), with the epsilon 3 allele occurring most frequently (78%) in the Caucasian population. Association studies have shown a protective effect on CHD in epsilon 2 carriers and a harmful effect in epsilon 4 carriers. However, there are conflicting results regarding such allelic effects in respect to gender. This review is focused on the gender-related influence of Apo E polymorphism in respect to plasma lipid levels and the risk of CHD. Additionally, an effort is made to determine if this relation exists and if it can be satisfactorily explained. The studies cited here demonstrate a complex, multifactorial association between these factors, in need of further corroboration in greater population samples.

Primary and secondary hypertriglyceridaemia.

Familial hypertriglyceridaemia is inherited in an autosomal dominant manner. The responsible genetic abnormality is unknown but recently, a novel gene encoding apolipoprotein AV has been linked to familial hypertriglyceridaemia. All patients develop the same phenotype with elevated levels of very low density lipoproteins (VLDL) in plasma. The main disorder of this dyslipidaemia is decreased intestinal absorption of biliary acids, leading to a compensatory increase of VLDL production. In familial hypertriglyceridaemia, a marked increase in plasma triglyceride (TG) levels can cause acute pancreatitis. Moreover, patients with other genetic factors, like familial chylomicronaemia, familial combined hyperlipidaemia, familial dysbetalipoproteinaemia and other rare disorders (e.g. Tangier disease and fish eye disease) may present increase of TG levels or cholesterol levels or both. Secondary hypertriglyceridaemias include hypothyroidism, kidney abnormalities (e.g. nephrotic syndrome or chronic kidney failure), diabetes mellitus, heavy alcohol consumption and obesity. In men and postmenopausal women, it seems that estrogen deficiency is responsible for higher TG levels compared with premenopausal women postprandially. In every state -fasting or postprandial-, women demonstrate lower plasma TG levels compared with men. This fact is due not only to increased muscular TG uptake and storage but also to higher TG clearance. Many studies demonstrated an age impact on plasma TG increase and larger variation of fasting TG levels caused by age. Also, hypertriglyceridaemia (TG >150 mg/dl; 1.7 mmol/l) is one of the diagnostic criteria of metabolic syndrome. Finally, several drugs may increase TG levels (e.g. chlorthalidone or beta-blockers).

Apolipoprotein E gene polymorphism and obesity status in middle-aged men with coronary heart disease.

BACKGROUND: Apolipoprotein (apo) E polymorphism has been associated with coronary heart disease (CHD) and obesity. We aimed to determine whether apoE polymorphism is related to CHD in patients with different body mass index (BMI). PATIENTS AND METHODS: A total of 359 CHD men and 248 healthy controls with BMI <27 kg/m2 were genotyped for the apoE polymorphism. The CHD patients were divided into: normoweight (BMI: 24 +/- 1 kg/m2, n=98), overweight (BMI: 27 +/- 1 kg/m2, n=189) and obese (BMI: 32 +/- 2 kg/m2, n=72) groups. RESULTS: There was a significant difference in apoE genotype frequency between normoweight CHD patients and healthy controls (epsilon2epsilon2 + epsilon2epsilon3: 6% vs. 15%, p=0.029; epsilon3epsilon3: 83% vs. 70%, p=0.045, respectively). The apo epsilon3epsilon4 + epsilon4epsilon4 frequency was higher in obese compared with normoweight CHD patients (p=0.043). The severity of CHD was similar in all patients with CHD. CONCLUSION: Normoweight CHD patients, despite having a lower BMI and more favorable lipid profile, did not display any significant difference in CHD severity. This could be partially attributed to the lower frequency of the epsilon2 cardio-protective allele in normoweight CHD patients compared with normoweight healthy individuals.

Gender differences in the lipid profile of dyslipidemic subjects.

OBJECTIVE: We evaluated the gender-associated differences in lipid profile of subjects intended to receive lipid-lowering therapy with emphasis on the associations between triglycerides (TG) and other plasma lipid variables. DESIGN: Lipid profiles of 1385 patients [aged 55+/-11 years, 549 women (40%)] were evaluated. Eligible subjects fulfilled one or more of the following criteria: total cholesterol (TC)>or=6.2 mmol/l, TG>or=1.7 mmol/l, and high-density lipoprotein cholesterol (HDL-C)<1.0 mmol/l. Patients were divided into subgroups according to TG and HDL-C levels. RESULTS: Women aged on average 3.5 years older, had higher TC and HDL-C, lower TG and a correspondingly lower TC/HDL-C ratio than men. High TG and low HDL-C in tandem appeared twice more frequently in men. Inverse correlations between HDL-C and TG levels were found to exist in the entire cohort (r=-0.354, p<0.001) and in all various subgroups. In the subgroup with TG<1.7 mmol/l, women had higher TC and HDL-C, lower TG levels and lower TC/HDL-C ratio compared with men. In the subgroup with TG>or=1.7 mmol/l, women had higher TC and HDL-C levels and lower TC/HDL ratio compared with men. In the subgroup with HDL-C>or=1.0 mmol/l women had higher HDL-C, lower TG levels and lower TC/HDL-C ratio compared with men. CONCLUSIONS: Elevated TG levels and low HDL-C in tandem are common lipid abnormalities in the clinical setting of primary and secondary preventions. Gender-associated differences in the lipid profile are evident in subjects presenting with dyslipidemia and might be of potential relevance for diagnostics and therapy for the prevention of atherosclerosis.

Apolipoprotein E gene polymorphism and myocardial infarction.

Apolipoprotein (apo) E polymorphism has been widely studied and associated with coronary heart disease (CHD). Apo E is polymorphic, with three common alleles: epsilon 2, epsilon 3, and epsilon 4. Several studies have shown that epsilon 2 carriers have lower low-density lipoprotein and apo B levels and higher high-density lipoprotein cholesterol and apo A-I levels than epsilon 3 carriers. The opposite being found for epsilon 4 carriers compared with epsilon 3 carriers. Allele as well as genotype frequencies may vary in different populations. In Northern European populations, the epsilon 4 allele is more prevalent which may account for the higher CHD mortality rates. However, its positive association with the risk of CHD may be extended to all epsilon 4 allele carriers worldwide.