SNPMiner Trials by Shray Alag


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Report for SNP rs7412

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 3 clinical trials

Clinical Trials


1 Austrian Prospective Cohort Study in Cognitive Function of Elderly Marathon-runners

There is substantial research on the effects of physical exercise on cognitive functions. However, less attention has been paid on the requirements of training intensity and length to enhance cognitive abilities in the elderly. To the investigators knowledge no studies have evaluated the effects of extensive endurance exercise training on cognitive functions by studying elderly marathon runners and bicyclists. On the basis of the scientific literature published so far it is not known whether the beneficial impact of endurance exercise training depends on the intensity of training. The investigators therefore designed a cohort study with adequate power in order to evaluate the effects of intensive endurance exercise training on cognition. This trial, an Austrian prospective cohort study in cognitive function of elderly marathon-runners (APSOEM) is being conducted and will compare neuropsychological performance outcomes of elderly marathon runners or bicyclists with controls matched concerning age, education years, occupation, and verbal intelligence.

NCT01045031 Cognitive Decline
MeSH: Cognitive Dysfunction
HPO: Cognitive impairment Mental deterioration

For this, pre-designed TaqMan SNP-Genotyping assays to distinguish the ApoE ε4 allele from ε2 and ε3 at amino acid position 112 (ApoE rs429358, Assay ID C_3084793_20, Applied Biosystems) and the ApoE ε2 allele from ε3 and ε4 at amino acid position 158 (rs7412, Assay ID C_904973_10, Applied Biosystems) were purchased.

Primary Outcomes

Description: Hypothesis will be tested at the second follow-up examinations.

Measure: the Proportion of Subjects, Who Will Develop Mild Cognitive Impairment

Time: 10 years

Measure: Brain-derived Neurotrophic Factor (BDNF)

Time: Baseline and 5 years

Secondary Outcomes

Description: The following self rating scales were used: WHO-5 Quality of Life Assessment (Braeher, E., Muehlan, H., Albani, C., & Schmidt, S. (2007). Testing and standardization of the German version of the EUROHIS-QOL and WHO-5 quality-of life-indices. Diagnostica, 53(2), 83-96.). Range: 0 - 25, higher scores indicate better quality of life.

Measure: Self Rating by Questionnaires

Time: Baseline and 5 years

Measure: Insulin-like Growth Factor (IGF-1)

Time: Baseline and 5 years

2 Effect of Beta-Glucan Molecular Weight and Viscosity on the Mechanism of Cholesterol Lowering in Humans

The primary aim of this study is to determine whether the cholesterol-lowering efficacy of barley b- glucan varied as function of molecular weight (MW) and the total daily amount consumed. Our second aim is to investigate the mechanism responsible for the action, specifically, whether β-glucan lowers circulating cholesterol concentration via inhibiting cholesterol absorption and synthesis. Thirdly, we aim to determine if any gene-diet interactions are associated with cholesterol lowering by barley β-glucan. In addition, we aim to investigate the alteration of the gut microbiota after β-glucan consumption and the correlation between the altered gut microbiota and cardiovascular disease risk factors.

NCT01408719 Hypercholesterolemia Dietary Supplement: Control Dietary Supplement: 3g LMW beta-glucan Dietary Supplement: 5g LMW beta-glucan Dietary Supplement: 3g HMW beta-glucan
MeSH: Hypercholesterolemia
HPO: Hypercholesterolemia

The Single Nucleotide Polymorphism (SNP) rs3808607 of CYP7A1 gene, rs429358 and rs7412 of APOE gene, and their associations with different blood lipid responses to beta-glucan interventions will be determined.. Changes in Body Weight and Waist Circumference(WC).

Single nucleotide polymorphisms (SNPs), rs3808607 of gene CYP7A1and rs429358 and rs7412 will be determined byTaqMan® SNP Genotyping assay following the manufacturer's protocol.

Primary Outcomes

Description: Fasted total cholesterol concentration will be measured using the automated enzymatic methods.

Measure: Changs in Total Cholesterol

Time: Beginning and end of each phase

Description: Serum LDL cholesterol will be estimated using the Friedewald equation.

Measure: Changes in LDL Cholesterol

Time: Beginning and end of each phase

Secondary Outcomes

Description: The rate of cholesterol absorption and synthesis will be measured in each intervention phase using single stable isotope labelling technique.

Measure: Cholesterol Absorption/Synthesis

Time: End of each phase

Description: The Single Nucleotide Polymorphism (SNP) rs3808607 of CYP7A1 gene, rs429358 and rs7412 of APOE gene, and their associations with different blood lipid responses to beta-glucan interventions will be determined.

Measure: Potential Gene-nutrient Interactions: CYP7A1 and APOE

Time: Once for each participant

Description: Body weight will be monitored every day when subject visits the Richardson Centre. Waist circumference will be measured at the beginning and end of each study phase.

Measure: Changes in Body Weight and Waist Circumference(WC)

Time: Every day for body weight; beginning and end of each phase for WC

3 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)

rs429358 and rs7412), APOA-I (e.g.

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: Baseline

Description: 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)

Other Outcomes

Measure: Genotyping for apolipoprotein E to determine the impact of this genotype on changes in the primary and secondary outcome measurements in response to dietary fat intake

Time: Baseline


HPO Nodes


Hypercholesterolemia
Genes 65
TTPA LDLR LDLRAP1 LDLR SLC7A7 CYP7A1 APOE APOB JAG1 CAV1 DEAF1 CCDC115 ABCG8 TDP1 RAI1 COG4 GHR NUP107 APOA2 CAV1 CAV3 NUP107 GHR OCRL IQSEC2 LPL CETP MEF2A APOB SLC25A13 PPP1R17 LRP6 ABCG8 APTX LPL CYP27A1 CEP19 PHKA2 LIPA LDLRAP1 FLII TMEM199 RAI1 TDP1 PIK3R5 RSPO1 PHKG2 LIPA ALB OCRL SETX PHKA2 EPHX2 LMNA RAI1 DYRK1B APOC3 LMNA PCSK9 SLC25A13 PCSK9 PYGL SLC25A13 ABCG5 DGAT1
Mental deterioration
Genes 462
TIMM8A PRNP GRN SCN9A CSF1R WDR45 RNASEH1 PRKAR1A CHMP2B SCN1A SLC6A1 CYP27A1 ATP1A3 DNAJC13 ND1 OPA1 SNCA QDPR TRNS1 APOL4 CTC1 SNORD118 DRD3 ADH1C PARS2 APOE TYMP GABRB3 BSCL2 CPLX1 FUS LMNB1 ERCC4 GABRA2 AP5Z1 COX2 SCN1A TIMMDC1 SNCA YWHAG TRNQ IRF6 UBA5 GBA DNMT1 PSAP HNRNPA1 APOL2 SCN3A DNAJC6 DNMT1 PDE11A SYN2 ITM2B RAB27A HTT SUMF1 ATP6V1E1 GABRG2 SDHA COX3 GBA2 HEXB WFS1 TYROBP C9ORF72 RRM2B NPC2 SURF1 PNPLA6 NHLRC1 DAOA ERCC6 SCARB2 C9ORF72 CNTNAP2 UBTF HTT RNF216 PDGFRB UCHL1 PRNP HNRNPA2B1 LRRK2 NDUFS2 CYTB MFSD8 TINF2 APP APP CLN3 ATP13A2 PSEN1 ASAH1 ATXN3 SNCAIP BSCL2 DCAF17 NOTCH3 STXBP1 GBE1 AP2M1 GALC ATP6 IDUA HSD17B10 PPT1 JPH3 PSEN1 TTR PODXL PSEN1 APP COX1 PRNP APP COASY CTSD SPG11 GRN PRNP ATP13A2 POLG DCTN1 CHMP2B PPP2R2B SDHAF1 HEXA CST3 TWNK ATP6V0A2 GRN XPA TMEM106B SNCA CSF1R MATR3 PRNP MAPT CHMP2B AMN MAPT ERCC2 COL18A1 APP MAPT CSTB TRNK C19ORF12 MTHFR PSEN1 CP UBQLN2 TREM2 CLN8 PRKN CACNA1B ARSA NR4A2 ATN1 PRDM8 VCP RBM28 PSEN1 FA2H PINK1 PLAU TRPM7 CFAP43 HFE VCP GBA NDUFB8 ATP7B NDUFA6 XPR1 TUBA4A TRAK1 AKT1 SYNGAP1 CHD2 HNRNPA2B1 CERS1 AARS2 CTSF TBP SYNJ1 SERPINI1 MATR3 TRNL1 WWOX GABRB2 MAPT PSAP ABCA7 KCNA2 TRNC ALDH18A1 NOTCH3 MAPK10 PLP1 GRN FTL CHCHD10 TMEM106B TTPA VCP C9ORF72 TIMM8A NUS1 FGF12 PSEN2 FBXO7 LRRK2 HIBCH EEF1A2 PANK2 CUX2 FMR1 PRKAR1B PDGFRB NTRK2 CHI3L1 ND5 MAPT EIF4G1 HEPACAM VPS35 SPG21 GNAS TREX1 CLTC ALDH18A1 EPM2A PDGFRB CHD2 SYNJ1 GBA PRDX1 ATXN2 PRICKLE1 DHDDS RTN4R SLC13A5 ZFYVE26 NRAS POLG SCN8A HNF1A KCNA2 TREM2 TBP HTR2A SQSTM1 WFS1 TREM2 CLN8 PLA2G6 SPAST PRKCG NDUFAF3 RNF216 CLN6 PLA2G6 GDAP2 GBA PSEN1 SUMF1 HTRA1 TARDBP NDP PINK1 MFN2 NECAP1 NHLRC1 VPS13C ATXN7 ND6 PANK2 PSAP GLUD2 PTS GCH1 LRRK2 MECP2 NOS3 FA2H SQSTM1 ATXN2 ARSA TRNK SQSTM1 MAPT GRN APP RBM28 NOTCH2NLC PDGFB TBC1D24 PDE10A KCTD7 TRNV MAPT ACTB MAPT RAB39B TREM2 ROGDI SNCA SLC20A2 MAPT ABCC8 CTNS TARDBP CYFIP2 GRIN2D CLN6 WDR45 DNM1 HLA-DQB1 ATP1A2 UBAP1 TRNW NPC1 ATP6 GLB1 GBA2 TRNE TMEM106B MAPT PDGFB GBA SNCA JPH3 SMC1A MAPT C9ORF72 PARK7 NAGLU APTX MYORG SDHD DNM1L SLC1A2 ROGDI PRDM8 C19ORF12 MAPT ATXN10 PLEKHG4 HTRA2 DARS2 HGSNAT COL4A1 SLC2A3 ATP13A2 MBTPS2 TRNF CUBN FMR1 NBN TLR3 TUBB4A GBA SLC13A5 TK2 SGPL1 AARS1 TREX1 TRNS2 KCNC1 SNCB VPS13C ATP6V1A AP3B2 VCP RRM2B UCP2 DCTN1 GM2A SORL1 PRNP PRNP MAPT ABCD1 ARV1 PLA2G6 TBK1 HTT DNAJC5 DGUOK ARSA ATP13A2 CHMP2B CSTB SPG11 PSEN2 PSEN1 CISD2 CHCHD10 MPO ATXN7 ITM2B FTL HCN1 CACNA1A MCOLN1 PAH SPG21 KMT2A PPP2R2B ADA2 TREM2 TBK1 CHMP2B TYROBP EPM2A VPS13A ATXN8OS HNF4A SCO2 GABRA5 PPP3CA ATXN2 TOMM40 GIGYF2 PRNP APOE SZT2 COMT SDHB ADA2 SQSTM1 ACTL6B ST3GAL5 CNKSR2 FA2H C9ORF72 KCNJ11 CLN5 SYNJ1 TBP KCNB1 CFAP43 APP ATP6V1A ERCC8 GBA VCP DNMT1 DNM1 MMACHC A2M CP HTRA1 TBK1 ASAH1 DISC2 ATN1 RRM2B SNCA VCP