SNPMiner Trials (Home Page)
Report for Mutation D19H
Developed by Shray Alag, 2020.
SNP Clinical Trial Gene
There is one clinical trial.
Clinical Trials
1 Reading Imperial Surrey Saturated Fat Cholesterol Intervention (RISSCI) Study. RISSCI-1 Blood Cholesterol Response Study
Raised blood cholesterol (also referred to as blood LDL-cholesterol) is a major risk factor for developing heart disease. Dietary saturated fat is recognised as the main dietary component responsible for raising blood LDL-cholesterol, and reducing its intake has been the mainstay of dietary guidelines for the prevention of heart disease for over 30 years. However, there is very little evidence for a direct link between the intake of saturated fat and risk of dying from heart disease. One explanation for this, is that the link between saturated fat intake and heart disease is not a direct one, but relies heavily on the ability of saturated fat to raise blood LDL-cholesterol levels. This LDL cholesterol-raising effect of saturated fat is complex, and highly variable between individuals because of differences in the metabolism of dietary fat and cholesterol between people. The main aim of this study is to measure the amount of variation in blood LDL-cholesterol in 150 healthy volunteers (75 at the University of Surrey and 75 at the University of Reading) in response to lowering the amount of saturated fat in the diet to the level recommended by the government for the prevention of heart disease. This collaborative project between the Universities of Reading, Surrey and Imperial ('RISSCI-1 Blood Cholesterol Response Study') will permit identification of two subgroups of men who show either a high or low LDL-cholesterol response to a reduction in dietary saturated intake. These participants (n=36) will be provided with an opportunity to participate in a similar follow-up study ('RISSCI-2') that will also take place at the University of Surrey and Reading. In this follow-up study, the participants will be asked to repeat a similar study protocol as for RISSCI-1, but undergo more detailed measurements to determine how saturated fat is metabolised in the body.
NCT03270527 Lipids Lipid Metabolism Healthy Other: High SFA diet (Diet 1) Other: Low SFA diet (Diet 2)
D19H, C1895T), functional polymorphisms in the farnesoid X receptor (FXR) and bile acid transporters (e.g. --- D19H ---
Primary Outcomes
Measure: Changes in fasting total cholesterol (consisting of LDL-cholesterol and HDL) concentrations Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)Secondary Outcomes
Measure: Fasting triacylglycerol Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)Measure: HDL immune functions Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)
Measure: HDL anti-inflammatory and anti-oxidant (PON-1) properties Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)
Measure: HDL capacity to promote cholesterol efflux (ex-vivo) Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)
Measure: Fasting insulin, glucose Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)
Measure: Adhesion molecules, markers of vascular function Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)
Measure: Inflammatory markers & adipokines Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)
Measure: LDL-R gene expression Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)
Description: Polymorphic genes with potential influence on the serum LDL response to dietary saturated fat, e.g.: ATP-binding cassette proteins (cholesterol efflux proteins) ABCG5 (e.g. C1950G) ABCG8 (e.g. D19H, C1895T), functional polymorphisms in the farnesoid X receptor (FXR) and bile acid transporters (e.g. solute carrier organics anion 1B1). Fatty acid desaturases (FADS1 and FADS2). The patatin-like phospholipase domain-containing protein (PNPLA3) (e.g. rs738409 C/G), eNOS. Lipid/cholesterol homeostasis: serum apolipoprotein genes: APOE (ε2,ε3,ε4 e.g. rs429358 and rs7412), APOA-I (e.g. -75G/A), APOA4 (e.g. 360-2), APOA5 (e.g. -113/T>:c), APOCIII, APOB (e.g. -516C/T). Lipase genes: (e.g. LPL, HL, MGLL). Lipoprotein receptor genes (e.g. pvu11 in the LDL receptor), lipid transfer proteins (e.g. CETP e.g Taq1B, MTP), and other polymorphic genes related to the absorption and metabolism of dietary fat and regulation of lipid/cholesterol homeostasis.
Measure: Other relevant genes involved in the absorption and metabolism of dietary fat Time: BaselineDescription: Analyses conducted by Imperial College London
Measure: Metabolomic analysis for the determination of the low molecular weight metabolite profiles in the biological fluids Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)Measure: Changes in faecal bacterial population Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)
Description: BMI will also be calculated (kg/ height in m^2)
Measure: Weight Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)Measure: Fat mass Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)
Measure: Fat free mass Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)
Measure: Waist circumference Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)
Measure: Hip circumference Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)
Measure: Blood pressure Time: Baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)
Description: Measured via pulse wave assessment using the Mobil-O-graph device.
Measure: Fasting vascular stiffness Time: baseline, 4 weeks (after diet 1), 8 weeks (after diet 2)