scholarly journals Association of C677T Polymorphism in MTHFR Gene, High Homocysteine and Low HDL Cholesterol Plasma Values in Heterozygous Familial Hypercholesterolemia

2009 ◽  
Vol 16 (6) ◽  
pp. 815-820 ◽  
Author(s):  
Jose T Real ◽  
Sergio Martinez-Hervas ◽  
Ana Barbara Garcia-Garcia ◽  
F Javier Chaves ◽  
Miguel Civera ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Hdl Cholesterol ◽  
Mthfr Gene ◽  
C677t Polymorphism ◽  
Heterozygous Familial Hypercholesterolemia ◽  
Low Hdl

IDENTIFYING THE C677T POLYMORPHISM OF MTHFR GENE BY PCR-RFLP TECHNIQUE

2011 ◽  
pp. 28-35
Author(s):  
Keyword(s):  
Internal Control ◽  
Restriction Site ◽  
Mthfr Gene ◽  
C677t Polymorphism ◽  
Mthfr Genotype ◽  
Restriction Digest ◽  
Genotype Frequencies ◽  
Pcr Rflp ◽  
Sequencing Technique ◽  
Volunteer Group

Background: The C677T polymorphism of MTHFR gene is a risk factor of many diseases. This study is aimed at: (1) Improving a PCR-RFLP process with the own designed primers to identify the C677T polymorphism of MTHFR gene. (2) Evaluating the prevalence of the C677T polymorphism of MTHFR gene in volunteer group. Materials and method: DNA samples was extracted from peripheral blood of 60 volunteers. Designing primers by using FastPCR software, then improving PCR technique. Standardizing the optimal conditions of restriction digest by HinfI. Confirming the results of polymorphism by DNA sequencing technique. Results: We designed successfully primers to amplify fragment of MTHFR gene including C677T polymorphism and an obligatory restriction site of HinfI (as internal control). 0.5 µl of HinfI enzyme (10 U/µl) is enough for restriction digest. The MTHFR genotype frequencies were: 71.67 % (677CC); 25% (677CT); and 3.33 % (677TT). Conclusion: We standardized successfully PCR-RFLP technique to identifying C677T polymorphism of MTHFR gene. Keywords: C677T polymorphism, MTHFR gene, PCR-RFLP

scholarly journals Association between the Mediterranean lifestyle, metabolic syndrome and mortality: a whole-country cohort in Spain

2021 ◽  
Vol 20 (1) ◽  
Author(s):  
Mercedes Sotos-Prieto ◽  
Rosario Ortolá ◽  
Miguel Ruiz-Canela ◽  
Esther Garcia-Esquinas ◽  
David Martínez-Gómez ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Cardiovascular Mortality ◽  
Cardiovascular Health ◽  
Total Mortality ◽  
Hdl Cholesterol ◽  
Cardiometabolic Health ◽  
The Metabolic Syndrome ◽  
Mediterranean Countries ◽  
Low Hdl ◽  
The Mediterranean

Abstract Background Evidence is limited about the joint health effects of the Mediterranean lifestyle on cardiometabolic health and mortality. The aim of this study was to evaluate the association of the Mediterranean lifestyle with the frequency of the metabolic syndrome (MS) and the risk of all-cause and cardiovascular mortality in Spain. Methods Data were taken from ENRICA study, a prospective cohort of 11,090 individuals aged 18+ years, representative of the population of Spain, who were free of cardiovascular disease (CVD) and diabetes at 2008–2010 and were followed-up to 2017. The Mediterranean lifestyle was assessed at baseline with the 27-item MEDLIFE index (with higher score representing better adherence). Results Compared to participants in the lowest quartile of MEDLIFE, those in the highest quartile had a multivariable-adjusted odds ratio 0.73 (95% confidence interval (CI) 0.5, 0.93) for MS, 0.63. (0.51, 0.80) for abdominal obesity, and 0.76 (0.63, 0.90) for low HDL-cholesterol. Similarly, a higher MELDIFE score was associated with lower HOMA-IR and highly-sensitivity C-reactive protein (P-trend < 0.001). During a mean follow-up of 8.7 years, 330 total deaths (74 CVD deaths) were ascertained. When comparing those in highest vs. lowest quartile of MEDLIFE, the multivariable-adjusted hazard ratio (95% CI) was 0.58 (0.37, 0.90) for total mortality and 0.33 (0.11, 1.02) for cardiovascular mortality. Conclusions The Mediterranean lifestyle was associated with lower frequency of MS and reduced all-cause mortality in Spain. Future studies should determine if this also applies to other Mediterranean countries, and also improve cardiovascular health outside the Mediterranean basin.

scholarly journals Impact of Diet on Plasma Lipids in Individuals with Heterozygous Familial Hypercholesterolemia: A Systematic Review of Randomized Controlled Nutritional Studies

Nutrients ◽  
2021 ◽  
Vol 13 (1) ◽  
pp. 235
Author(s):  
Gabrielle Roy ◽  
Anykim Boucher ◽  
Patrick Couture ◽  
Jean-Philippe Drouin-Chartier
Keyword(s):  
Familial Hypercholesterolemia ◽  
Dietary Supplement ◽  
Guar Gum ◽  
Risk Of Bias ◽  
Omega 3 ◽  
Dietary Counseling ◽  
Randomized Controlled ◽  
Heterozygous Familial Hypercholesterolemia ◽  
Counseling Interventions ◽  
The Impact

Background: Conclusive data on the effectiveness of dietary interventions in heterozygous familial hypercholesterolemia (HeFH) management are unavailable. Whether this is due to a true lack of effects or biases in intervention designs remains unsettled. We systematically assessed the impact on LDL-C of published dietary randomized controlled trials (RCTs) conducted among individuals with HeFH in relation to their design and risk of bias. Methods: We systematically searched PubMed, Web of Science, and Embase in November 2020 to identify RCTs that assessed the impact of: (1) food-based interventions; (2) dietary counseling interventions; or (3) dietary supplements on LDL-C in individuals with HeFH. We evaluated the risk of bias of each study using the Cochrane Risk of Bias 2 method. Results: A total of 19 RCTs comprising 837 individuals with HeFH were included. Of those, five were food-based interventions, three were dietary counseling interventions and 12 were dietary supplement-based interventions (omega-3, n = 3; phytosterols, n = 7; guar gum, n = 1; policosanol, n = 1). One study qualified both as a food-based intervention and as a dietary supplement intervention due to its factorial design. A significant reduction in LDL-C levels was reported in 10 RCTs, including eight dietary supplement interventions (phytosterols, n = 6, omega-3, n = 1; guar gum, n = 1), one food-based intervention and one dietary counseling intervention. A total of 13 studies were judged to have some methodological biases in a way that substantially lowers confidence in the results. Studies at low risk of biases were more likely to report significant reductions in LDL-C concentrations, compared with studies at risk of bias (chi-square statistic: 5.49; p = 0.02). Conclusion: This systemic review shows that the apparent lack of effectiveness of diet manipulation in modulating plasma levels of LDL-C among individuals with HeFH is likely due to biases in study designs, rather than a true lack of effects. The likelihood of reporting significant reductions in LDL-C was associated with the concurrent risk of bias.

scholarly journals PRESENCE AND BURDEN OF CORONARY ATHEROSCLEROSIS IN HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA

2021 ◽  
Vol 77 (18) ◽  
pp. 1411
Author(s):  
Khurram Nasir ◽  
Reed Mszar ◽  
Miguel Cainzos-Achirica ◽  
Gowtham Grandhi ◽  
Rodrigo Alonso Karlezi ◽  
...  
Keyword(s):  
Familial Hypercholesterolemia ◽  
Coronary Atherosclerosis ◽  
Heterozygous Familial Hypercholesterolemia

scholarly journals High prevalence of low HDL cholesterol concentrations and mixed hyperlipidemia in a Mexican nationwide survey

2001 ◽  
Vol 42 (8) ◽  
pp. 1298-1307 ◽  
Author(s):  
Carlos A. Aguilar-Salinas ◽  
Gustavo Olaiz ◽  
Victoria Valles ◽  
Juan Manuel Ríos Torres ◽  
Francisco J. Gómez Pérez ◽  
...  
Keyword(s):  
Hdl Cholesterol ◽  
Nationwide Survey ◽  
High Prevalence ◽  
Low Hdl ◽  
Mixed Hyperlipidemia
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