SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation E167K

Developed by Shray Alag, 2020-2021.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Genetic Regulation of Lipid Pathways Contributing to Non-alcoholic Fatty Liver and Atherogenic Dyslipidemia

The aims of the study are: 1. To investigate if carriers of apolipoprotein (apo) CIII loss-of-function (LOF) mutations produce less apo-CIII that results in reduction of large very low-density lipoprotein (VLDL) particle secretion as compared to non-carriers of these variants and compare the results with carriers of apo-CIII gain-of-function (GOF) to elucidate the role of apo-CIII in hepatic lipid metabolism. 2. To study if carriers of the TM6SF2 E167K and PNLPLA3 I148M mutations produce less large VLDL particles to transport fat out of the liver as compared to non-carriers. 3. To test whether the specific mutations in the apo-CIII, TM6SF2 and PNLPLA3 genes are reflected in changes of liver de novo lipogenesis (DNL), liver fat, Homeostatic Model Assessment for Insulin Resistance (HOMA-IR), plasma lipid and apolipoprotein kinetics and fasting concentrations in carriers of the TM6SF2 E167K and PNLPLA3 I148M mutations as compared to non-carriers. 4. To study the effects of APOE, angiopoietin (ANGPTL3 and ANGPTL8) or endothelial lipase (LIPG) genotypes on liver fat metabolism, lipid and apolipoprotein metabolism and lipid phenotypes.

NCT04209816
Conditions
  1. Non-alcoholic Fatty Liver
  2. Atherogenic Dyslipidemia
  3. Insulin Resistance
Interventions
  1. Diagnostic Test: Lipoprotein kinetics
MeSH:Fatty Liver Non-alcoholic Fatty Liver Disease Insulin Resistance Dyslipidemias
HPO:Abnormal circulating lipid concentration Hepatic steatosis Insulin resistance

2. To study if carriers of the TM6SF2 E167K and PNLPLA3 I148M mutations produce less large VLDL particles to transport fat out of the liver as compared to non-carriers. --- E167K ---

3. To test whether the specific mutations in the apo-CIII, TM6SF2 and PNLPLA3 genes are reflected in changes of liver de novo lipogenesis (DNL), liver fat, Homeostatic Model Assessment for Insulin Resistance (HOMA-IR), plasma lipid and apolipoprotein kinetics and fasting concentrations in carriers of the TM6SF2 E167K and PNLPLA3 I148M mutations as compared to non-carriers. --- E167K ---

Inclusion Criteria: - persons who have provided written consent - apo-CIII loss-of-function mutation (heterozygous) or apo-CIII gain-of-function mutations (heterozygous) or TM6SF2 E167K mutation (homozygous) or PNLPLA3 I148M or apoE or LIPG or ANGPTL3 or ANGPTL8 LOF and GOF variants. --- E167K ---

m² at inclusion Exclusion Criteria: - Patients with Type 1 and 2 diabetes, BMI > 40 kg/m2, - ApoE2/2 phenotype, thyrotropin concentration outside normal range, - Lipid-lowering drugs - Blood pressure >160 mmHg systolic and/or > 105 diastolic mmHg - Liver failure or abnormal liver function tests >3 x upper limit of normal - Intestinal disease - Pregnancy, breastfeeding - Patients with volume depletion Inclusion Criteria: - persons who have provided written consent - apo-CIII loss-of-function mutation (heterozygous) or apo-CIII gain-of-function mutations (heterozygous) or TM6SF2 E167K mutation (homozygous) or PNLPLA3 I148M or apoE or LIPG or ANGPTL3 or ANGPTL8 LOF and GOF variants. --- E167K ---

Primary Outcomes

Description: Production rate, mg/day

Measure: Difference in the rate of production of VLDL Apo B

Time: Baseline

Description: Production rate, mg/kg/day

Measure: Difference in the rate of production of VLDL Triglycerides

Time: Baseline

Description: Production rate, mg/kg/day

Measure: Difference in the rate of production of VLDL ApoC-III and apoE

Time: Baseline

Description: Rate of disappearance, pools/day

Measure: Difference in the Fractional Catabolic Rate of VLDL Apo B

Time: Baseline

Description: Rate of disappearance, pools/day

Measure: Difference in the Fractional Catabolic Rate of VLDL Triglycerides

Time: Baseline

Description: Rate of disappearance, pools/day

Measure: Difference in the Fractional Catabolic Rate of VLDL ApoC-III and apoE

Time: Baseline

Description: Measure of newly synthesized triglycerides in VLDL, μmol/l

Measure: Difference in de novo lipogenesis

Time: Baseline

Description: Percentage of liver fat measured with magnetic resonance spectroscopy

Measure: Difference in liver fat

Time: Baseline

Description: Remnant lipoproteins and lipoprotein fraction composition, mg/L

Measure: Difference in atherogenic dyslipidemia

Time: Baseline

Description: Calculated Homeostatic Model Assessment for Insulin Resistance (HOMA-IR)

Measure: Difference in insulin resistance

Time: Baseline

Description: ApoA, mg/dl

Measure: Difference in apoprotein A concentration

Time: Baseline

Description: ApoB, mg/dl

Measure: Difference in apoprotein B concentration

Time: Baseline

Description: ApoC, mg/dl

Measure: Difference in apoprotein C concentration

Time: Baseline

Description: ApoE, mg/dl

Measure: Difference in apoprotein E concentration

Time: Baseline

Description: Rate of turnover, pools/day

Measure: Difference in the rate of production and Fractional Catabolic Rate of intermediate-density Apo B

Time: Baseline

Description: Rate of turnover, pools/day

Measure: Difference in the rate of production and Fractional Catabolic Rate of low-density lipoprotein Apo B

Time: Baseline

Description: Measured lipoprotein lipase activity, mU/ml

Measure: Lipolytic activity

Time: Baseline

Description: Measured hepatic lipase activity, mU/ml

Measure: Hepatic lipase activity

Time: Baseline


HPO Nodes


HP:0003119: Abnormal circulating lipid concentration
Genes 313
PSMB4 LCAT SLC37A4 BSCL2 ATAD3A UBR1 FLCN PEX3 LDLRAP1 PEX6 COL7A1 TBL1X PLVAP CAV1 SLC25A13 DHCR7 PPARG GTF2IRD1 CAVIN1 PIK3R5 MYO5A PLIN1 TRNE COL7A1 CAVIN1 RTL1 APOA1 DLK1 LEP CYP7A1 EBP PEX7 PMM2 NGLY1 LDLR CIDEC LIPE APOC3 GPD1 UCP2 SLC29A3 LMNA ABCG8 DCAF17 SPIB LMBRD1 RSPO1 ABCG5 ZMPSTE24 KCNJ11 CPT2 TRNK AEBP1 TMEM43 LEPR APOB TBL2 SYNE1 PIGT ALB LRP6 CYP27A1 PEX12 EBP RTL1 ABCA1 CTNS PNPLA2 MTTP CLIP2 APOB RFC2 LMNA NPHS2 FECH PNLIP SGPL1 PYGL LMNA LMNA LIMK1 CCT5 PEX5 CYP27A1 IL12A HSD3B7 PLIN1 APOB EMD PEX10 SMPD1 NADK2 ELN BSCL2 PSMB8 LMNB2 FARSA SLC37A4 TANGO2 AKT2 GHR DLD ACOX2 LMNA CFHR1 SLC25A20 APOC2 LPL MEF2A LIPE NUP107 TNPO3 ACTN4 PANK2 PEX16 CCDC115 MEG3 IQSEC2 GHR STXBP2 NSMCE2 CETP AGL SAR1B LMAN1 HAVCR2 PLA2G7 DEAF1 CPT2 BSCL2 NPHS1 GK GLA ABCA1 CAV1 GPIHBP1 KCNJ1 PHKG2 PHKA2 APOA2 RAI1 AGL PEX12 PPP1R17 HADH ACAD9 MEG3 STX11 ACAD8 HNF4A TRMU MTTP CETP IL12RB1 OCRL GYS2 XRCC4 APOA5 PEX19 LMNA CFH ACADVL PEX2 PEX10 TFG HMGCL SLC25A13 ALMS1 SLC25A13 APTX APOA5 ABCD1 PHKG2 NADK2 LMNA AGPAT2 LMNA DCAF17 MSMO1 LMNA ABCG5 SLC7A7 DMPK PIGH PEX26 PNPLA2 FHL1 SMPD1 TMEM199 ACADVL G6PC1 ABCA1 GTF2I CPT1A LIPA PCSK9 TDP1 ACADM PPARG RAI1 ANGPTL3 HNF1A LBR FBN1 UNC13D SCO1 SLC2A3 RAI1 PEX13 BSCL2 LIPC PHKA2 ADCY3 CAV3 TRNE CPT1A XRCC4 NSDHL LIPA CFHR3 PSMB9 PRF1 POLD1 APOC3 POLR3A NSMCE2 OCRL DHCR7 MMACHC DHCR24 ABCC8 SC5D CAV1 NPC1 POU2AF1 NUP107 SLC22A5 PEX19 MCFD2 RAB27A ALB MC4R LDLRAP1 PEX5 TDP1 CPT2 LYST JAG1 TNFSF15 TBCK SLC25A13 GALNT2 LMNA PEX5 NPC2 CIDEC ALMS1 HTT LPL SETX CYP11A1 ABCA2 DYRK1B XIAP CYP11A1 FOS ACADM PEX14 CYP19A1 MMP1 DLK1 ZMPSTE24 POLR3A AGPAT2 LCAT LDLR MMEL1 EPHX2 COG4 PEX11B SLC12A1 APOE PPARG ABHD5 AR ACAD8 LCAT ABCA1 PEX2 BAZ1B TTPA PLA2G4A TANGO2 LTC4S FLII PEX1 FDFT1 SLC52A1 CPT2 SYNE2 ABCG8 PCSK9 CEP19 PEX7 IRF5 PHYH SAR1B DGAT1 PYGL ABCD1 PEX1 TRNL1 UBE3B