Blood Phytosterol Concentration and Genetic Variant Associations in a Sample Population.

The main objective of this study was to determine plasma levels of PS and to study SNVs rs41360247, rs4245791, rs4148217, and rs11887534 of ABCG8 and the r657152 SNV at the ABO blood group locus in a sample of a population treated at our hospital, and to determine whether these SNVs are related to plasma PS concentrations. The secondary objective was to establish the variables associated with plasma PS concentrations in adults. Participants completed a dietary habit questionnaire and a blood sample was collected to obtain the following variables: campesterol, sitosterol, sitostanol, lanosterol, stigmasterol, biochemical parameters, and the SNVs. In addition, biometric and demographic variables were also recorded. In the generalized linear model, cholesterol and age were positively associated with total PS levels, while BMI was negatively related. For rs4245791, homozygous T allele individuals showed a significantly lower campesterol concentration compared with C homozygotes, and the GG alleles of rs657152 had the lowest levels of campesterol compared with the other alleles of the SNV. Conclusions: The screening of certain SNVs could help prevent the increase in plasma PS and maybe PNALD in some patients. However, further studies on the determinants of plasma phytosterol concentrations are needed.

APOE Variants E2, E3, and E4 Can Be Miscalled By Classical PCR-RFLP When The Christchurch Variant Is Also Present.

BACKGROUND: The APOE Christchurch (APOECh) is a rare variant (c.543C>A) in codon 154. It was first described in an E2 patient with type III dyslipidemia, and thus initially called E2Ch. Its prevalence and the lipid profile of carriers remain unclear. METHODS: E2, E3, and E4 screening for the APOE gene was performed by PCR-RFLP. The rare APOECh variant was firstly found after detecting an unexpected 109 base-pair band in the high-resolution agarose gel electrophoresis leading to a genotype misinterpretation: the presence of APOECh alters the restriction-bands pattern. To confirm the Ch variant, a second PCR-RFLP method was specifically designed to detect this variant and Sanger sequencing was also performed for all positive samples. RESULTS: We identified 12 unrelated subjects for the APOECh among a cohort of 2,560 patients: nine E3/E3Ch, two E3Ch/E4, and one E2/E3Ch or E2Ch/E3. The frequency of the variant is 0.4% in our study population, which represents the highest percentage published so far. If there is a 109 bp band, it is easy to recognize the presence of the variant. However, in APOE routine genotyping, an E4Ch allele is indistinguishable from a standard E3. Therefore, E4Ch alleles might be underrepresented in the results. CONCLUSION: We recommend APOE exon 4 sequencing to unequivocally detect the common three variants E2, E3, and E4 and the rare variants as well, to find out the real role they play in atherosclerosis and to estimate its real frequency which is nowadays unclear, in part by the small number of cases identified.

Efectividad de un programa de prevención secundaria de la arteriosclerosis en el control de las dislipemias en pacientes con enfermedad arterial coronaria / Effectiveness of an arteriosclerosis secondary prevention program in controlling dislipidemia in patients with coronary artery disease

Introducción. Existen pocos datos sobre los efectos de un programa global de control de los factores de riesgo cardiovascular (FRCV) que incluya cambios tanto en el estilo de vida como en el tratamiento farmacológico. El objetivo de este estudio es valorar si el control múltiple e intensivo de los FRCV mediante un programa de prevención cardiovascular mejoraría significativamente el control en los pacientes con enfermedad arterial coronaria (EAC) comparado con el cuidado médico habitual. Pacientes y método. Se asignó al azar a 227 pacientes (198 varones y 29 mujeres; edad media, 60,31 ± 8,9 años) con un episodio arterial coronario de origen isquémico a un grupo de cuidado habitual (n = 108) o a un grupo de reducción de riesgo multifactorial dentro de un programa de prevención cardiovascular (n = 119). A los pacientes asignados al grupo de reducción global del riesgo se les proporcionó programas individualizados que incluían una dieta baja en grasas saturadas, práctica de ejercicio físico, pérdida de peso y consejos para dejar de fumar y se les indicó, cuando era necesario, el tratamiento con fármacos hipolipemiantes. El parámetro principal de valoración fue el número de individuos que alcanzaban un colesterol unido a lipoproteínas de baja densidad (cLDL) < 2,6 mmol/l. Se realizó a todos los individuos una evaluación médica y de sus FRCV en el momento basal y a los 9 meses. Los individuos del grupo de intervención además fueron visitados, como refuerzo del tratamiento, cada 3 meses. Resultados. Los pacientes asignados al programa de prevención experimentaron una mejoría significativa en varios FRCV, entre ellos el colesterol total (CT), el colesterol no unido a lipoproteínas de alta densidad, los triglicéridos, la apolipoproteína (apo) B, y el tabaquismo con respecto a los pacientes que recibieron los cuidados habituales. No se observaron diferencias significativas en el colesterol unido a lipoproteínas de alta densidad (cHDL), el cociente cHDL/cLDL, la apo-AI, la pérdida de peso, las presiones arteriales sistólica y diastólica y el fibrinógeno entre ambos grupos. Conclusiones. El tratamiento multifactorial y protocolizado de los FRCV durante un período de 9 meses logró un mejor control de los factores de riesgo lipídicos y no lipídicos que la asistencia convencional en los pacientes con EAC (AU)

Background. Information about the effects of a global program directed to the control of coronary risk factors involving both changes in lifestyle and drugs is lacking. The target of this study was to evaluate the hypothesis that an intensive multiple risk factor intervention program would improve significantly the lipid metabolism parameters in patients with coronary artery disease compared with subjects assigned to the usual care by their physicians. Patients and method. Two hundred and twenty seven patients (198 men and 29 women; mean age, 60.31 ± 8.9 years) with an ischemic coronary event were randomly assigned to usual care (n = 108) or multifactorial risk reduction (n = 119). Patients assigned to intensive global risk reduction were provided individualized measures involving a low-saturated fat diet, exercise, weight loss, smoking cessation, and drugs affecting lipid metabolism. The main outcome was the number of subjects achieving a LDL-c < 2.6 mmol/l. All subjects underwent medical and risk factor evaluations at baseline and after 9 months. Subjects on intensive intervention underwent successive medical evaluations every 3 months. Results. Intensive risk reduction resulted in significant improvements in several risk factors, including total cholesterol (TC), non-HDL cholesterol, triglycerides, apolipoprotein (apo) B, and smoking cessation compared with the changes observed in the usual-care group. No change was observed in HDL-c, HDL-c/LDL-c ratio, apo-AI, body weight, systolic and diastolic blood pressure, and fibrinogen in either group. Conclusions. Intensive secondary preventive program is better than conventional care in achieving the lipid and non-lipid therapeutic goals in patients with coronary artery disease (AU)