Human cholestryl ester transfer protein (TaqIB) polymorphism among Filipinos with cardiovascular risk factors.

BACKGROUND: HDL-C has emerged as an important independent predictor of cardiovascular disease. The FNRI-HDL and NNHes Study Group in the Philippines reported that there was a high prevalence of low HDL among Filipinos. Most cases of low HDL-C are associated with secondary causes like Metabolic Syndrome. A primary cause of reduced HDL-C such as increase Cholesteryl Ester Transfer Protein activity has been identified. OBJECTIVES: 1. To determine the phenotype and frequency of Cholesteryl Ester Transfer Protein (TaqIB) polymorphism among Filipinos with cardiovascular risk factors. 2. To determine the association of TaqIB polymorphism with HDL-C levels among Filipinos with cardiovascular risk factors. DESIGN: Cross-sectional Study. SETTING: University of the Philippines-Philippine General Hospital. STATISTICAL ANALYSIS: Descriptive statistics, Chi square test and Fisher's correlation test using Stata version 6. METHODS: Fifty patients were included in this pilot study and were examined with respect to genotype, lipid profiles, blood sugar and other cardiovascular risk factors. Polymerase Chain Reaction (PCR), Restriction Fragment Length Polymorphism (RFLP) and Agarose Gel Electrophoresis techniques were used to determine the CETP TaqIB Polymorphism. RESULTS: Out of 50 patients, 66% were females and 34% were males with a mean age of 55 y/o and a BMI of 27 kg/m(2). The following risk factors were identified: hypertension (92%), dyslipidemia (88%), obesity (68%), smoking (50%), diabetes mellitus type 2 (18%) and family history of premature CAD (14%). The genotype frequencies of B1B1; B1B2; B2B2 were 40%; 50% 10% respectively. The B1B1 homozygote was associated with lower HDL-C levels (45.35 +/- 8.82 mg/dL) compared to B1B2 (48.96 +/- 10.10 mg/dL) and B2B2 (48.99 +/- 10.13 mg/dL)). CONCLUSIONS: Cholesteryl Ester Transfer Protein (TaqIB) Polymorphisms exist among Filipinos with cardiovascular risk factors. The frequency of TaqIB polymorphism among Filipinos with cardiovascular risk factors were B1B1 (40%), B1B2 (50%) and B2B2 (10%). B1B1 polymorphism is more common than B2B2 and associated with low HDL-C.

Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia.

BACKGROUND: Familial Hypercholesterolemia (FH) is an autosomal dominant disease resulting from mutations of the LDL (LDLR) receptor gene leading to a diminished catabolism and elevated level of LDL cholesterol (LDL-C). It is associated with an increased risk for cardiovascular disease (CVD). The MEDPED (Make Early Diagnosis-Prevent Early Death) program, an initiative cited by the WHO Human Genetics Programme in their report on FH, initiated international collaboration to identify and follow-up patients with FH globally. From Asia-Pacific, only 6 countries are participating and no data among Filipinos particularly on genetic profiles is available at present. This study attempts to initiate data collection and participation in the global initiative. OBJECTIVES: Primary: 1. To describe the phenotype of Filipino patients with FH. 2. To determine and characterize the LDL-R gene mutations among Filipino patients with clinical features of FH. Secondary: To determine the association of the clinical characteristics of FH with the presence of LDLR gene mutations. DESIGN: Cross- Sectional Study. SETTING: Multicenter, Outpatient Clinic. PARTICIPANTS: 60 unrelated patients, 18 y/o and above from UP-PGH, Manila Doctors Hospital and Cardinal Santos Medical Center. FH was diagnosed according to the Dutch Lipid Clinic Network Criteria cited by WHO which is based on a history of premature CVD, family history, tendon xanthoma, arcus cornealis, and LDL C levels. METHODS: With informed consent, clinical history, physical examination and lipid profile data were determined. Blood samples were extracted, processed to isolate DNA specimens at the National Institutes of Health, Institute of Human Genetics, and sent to Canterbury Health Laboratories at Christchurch, New Zealand for DNA analysis. ANALYSIS: Descriptive statistics, Fisher's exact test and Student's t-test using Stata version 6.0 software. RESULTS: Sixty patients with a mean age of 55 y/o were included, including 39 (65%) females. The mean LDL level was 227 mg/dl. Cardiovascular Disease and a family history of dyslipidemia were present in 55 & 60% of the samples, respectively. Twenty percent had documented LDL-R gene mutations. Six of the mutations were considered novel. A family history of dyslipidemia, an elevated LDL-C level, and a high FH score exhibited a statistically significant association with mutations. The study population has a high prevalence of CVD at an average age of 55 years with a strong family history of dyslipidemia and very high average LDL-C levels. One out of every 5 patients had LDL-R gene mutations, 6 of which were considered novel. LDL-R gene mutation was significantly associated with family history of dyslipidemia, LDL-C Level and FH score. CLINICAL AND RESEARCH IMPLICATION: This is the first international collaborative genetic study among Filipinos with FH. Data could allow the country to participate in the WHO/MEDPED global program. Collaborative efforts will lead to more effective detection, treatment and prevention of CV events. Novel mutations were discovered and further analysis of these genes will be done.

Effect of Aubergiene (Solanum melongena) on Serum and Hepatic Cholesterol and Triglycerides in rats

A beringela (Solanum melongena) tem sido apontada como possuidora da capacidade de reduzir o colesterol sérico. O chá do vegetal vem senso utilizado com este propósito, devido ao interesse na descoberta de formas alternativas para o controle da hipercolesterolemia. No presente trabalho testou-se o efeito do chá de beringela no níveis séricos e hepáticos de colesterol e triglicerídeos em ratos adultos. Ratos Fisher foram divididos em tres grupos: o primeiro recebeu dieta normolipídica ad libitum e água para beber, funcionando como controle; os outros dois receberam dieta hipercolesterolêmica com 30 por cento de óleo vegetal e 1 por cento de colesterol, sendo dada a um destes grupos água para beber, enquanto que o outro recebeu apenas chá de beringela. Após 28 dias os animais foram sacrificados e dosaram-se os níveis de colesterol e triglicerídeos séricos e hepáticos. Os resultados obtidos indicam que, nas condiçöes experimentais utilizadas, o chá de beringela eleva o colesterol sérico, reduz o hepático e tem pouco ou nenhum efeito sobre os triglicerídeos, tanto séricos quanto hepáticos