SNPMiner Trials by Shray Alag


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Report for SNP rs641738

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Bioenergetic Remodeling in the Pathophysiology and Treatment of Non-Alcoholic Liver Disease

Non-Alcoholic Fatty Liver Disease (NAFLD), including its more pathologic consequence, non-alcoholic steatohepatitis (NASH), is believed to be the most common chronic liver disease worldwide, affecting between 6 to 37% of the population. NAFLD is a so called 'silent killer', as clinical symptoms only surface at late stages of the disease, when it is no longer treatable: untreated, NAFLD/NASH can lead to cirrhosis and hepatocellular carcinoma, culminating in liver failure. Several factors may contribute to the pathogenesis of NAFLD, including genetic assessment and mitochondrial dysfunction. Patients with NAFLD/NASH display disturbances of intestinal permeability, and gut microbiota. In the most of cases, NAFLD/NASH is strongly linked to other metabolic conditions, including visceral adiposity. Currently the best method of diagnosing and staging the disease is liver biopsy, a costly, invasive and somewhat risky procedure, not to mention unfit for routine assessment. Weight loss is the first step approach with reasonable evidence suggesting it is beneficial and safe in NAFLD/NASH patients. However, the efficacy of weight reduction for the treatment of NAFLD/NASH has not been carefully evaluated. Several studies on the effects of weight reduction on NAFLD/NASH have been uncontrolled, used poorly defined patient populations and non-standardized weight loss interventions, and lacked a well-accepted primary outcome for NASH. The objective of the project is to conduct a randomized controlled trial of 1 year-long weight reduction in the management of NAFLD/NASH patients using a lifestyle-dietary intervention program. Overweight or obese individuals with biopsy or ultrasonography (US) -proven NAFLD/NASH will be randomized to receive either standard medical care and educational sessions related to NAFLD/NASH, healthy eating, weight loss, and exercise (control group); or to an intensive weight management with a goal of at least 7-10 % weight reduction (lifestyle intervention group). The weight loss intervention will be modelled on Mediterranean-intervention-diet. The investigators hypothesize that a 7-10% weight reduction through intensive lifestyle intervention will lead to improvement of clinical, US, anthropometric, and biochemical features on patients diagnosed with NAFLD/NASH.

NCT03354247 Non-Alcoholic Fatty Liver Disease Behavioral: Lifestyle Intervention
MeSH:Liver Diseases Fatty Liver Non-alcoholic Fatty Liver Disease
HPO:Abnormality of the liver Decreased liver function Elevated hepatic transaminase Hepatic steatosis

Other variants might also play a role and include transmembrane 6 superfamily member 2 (TM6SF2) p.E167K, and membrane-bound O-acyltransferase domain containing 7 (MBOAT7) rs641738.

Primary Outcomes

Description: Qualitative nutritional analysis of patients' dietary habits will be measured by a validated 110-items food frequency questionnaire. Change in frequency of intake will be evaluated during the intervention to assess adherence to the Mediterranean diet, according to a validated score. The score goes from 0-18 and classifies the intake of the following 9 items: fruits, vegetables, legumes, cereals, fish, meat and meat products, dairy products, alcohol, and olive oil. Each item is scored from 0-2, depending on the adequacy of the range of habitual intake. For fruits, vegetables, legumes, cereals, fish, and olive oil, the higher the intake the higher the score; for dairy, meat and meat products, the higher the intake, the lower the score; for alcohol, a higher score is given for moderate intake, a 1 score for low intake and a 0 for higher intake. A higher score after intervention is desirable as it represents better adherence to the Mediterranean diet.

Measure: Changes in food intake and Mediterranean diet adherence score

Time: 0, 6, 12 months

Description: Changes in physical activity level will be assessed by a validated physical activity questionnaire. Physical activity level is classified into number of metabolic equivalent of tasks (METs) per minute per week. The range goes from light physical activity level (3 METs/min/week), to moderate (4.5 METs/min/week), to vigorous (6 METs/min/week). Assessment of appropriateness of level of physical activity will be done by comparison with the the recommended by the American College of Sports Medicine / American Heart Association (ACSM/AHA). Changes in level of physical activity will be used to evaluate adherence of the patients to the lifestyle intervention aiming a higher level of physical activity than at baseline (if low) or a maintenance of physical activity level (if already adequate).

Measure: Changes in physical activity level

Time: 0, 6, 12 months

Description: The body mass index (BMI), composed by weight and height of the patient (kg/m^2) will be used for classification of patients into the following categories according to the World Health Organization: BMI < 18.5 kg/m^2, underweight; BMI 18.5 - 24.9 kg/m^2, normal weight; BMI of 25.0 - 29.9 kg/m^2, overweight; BMI 30.0 - 34.9 kg/m^2, obesity class I; BMI 35.0 - 39.9 kg/m^2, obesity class II; and BMI > 40.0 kg/m^2, obesity class III. Changes in the absolute value and the classification will be evaluated, aiming at a classification of normal weight level or reduction of absolute level.

Measure: Changes in body mass index

Time: 0, 6, 12 months

Description: The abdominal circumference will be measure and used to classify metabolic risk according to the ATP III criteria -- for men, increased risk when abdominal girth is above 102 cm, and for women, increased risk of circumference over 88 cm. Reductions in the abdominal circumference will be evaluated with the goal of reaching values lower than baseline values, ideally under these cut-off points.

Measure: Changes in abdominal girth

Time: 0, 6, 12 months

Description: Evaluation of fat in the liver, as assessed by ultrasonography, can be classified into a score of 0-3, 0 standing for no accumulation of fat in the liver, and 1-3 describing increasing levels of fat accumulation. Changes in this score will be evaluated at selected time points to verify if adherence to the proposed lifestyle changes will reduce the amount of fat accumulation in the liver, and hence, the score.

Measure: Changes in liver steatosis score according to ultrasonography

Time: 0, 6, 12 months


HPO Nodes


HP:0001392: Abnormality of the liver
Genes 1412
PLIN1 CTBP1 CASR BCS1L GLB1 GDF2 SDCCAG8 TCIRG1 MICOS13 RAG1 INSR IFT172 TSC2 CDIN1 IL17F BLNK KCNAB2 FAN1 PHKA2 ARHGAP31 SGSH TSFM STK11 KCNN4 RNASEH2C EPCAM GPC3 RRAS2 OSTM1 CASP10 CC2D2A PDGFRA BRIP1 MOGS SFTPC ASAH1 NDUFAF1 BOLA3 GPR35 LIPE MED25 RAG2 TYMP TTC37 KCNH1 LTBP3 MTRR RNASEH2A PEX1 WDR35 CC2D2A PIEZO1 RHAG TTC7A GPC3 MLH3 FAH NDUFS3 MSH2 AUH IL6 POLG2 ATP7A ALDH7A1 SRD5A3 TRIM32 AXIN1 TCF4 AP1B1 ALG8 RUNX1 SERPINA1 SLC7A7 INS GBA ICOS SETBP1 CFI ALAS2 MYBPC3 SLC35A2 SLC37A4 MRPS16 RPGRIP1 DLD BSCL2 IFT43 PKLR GBA KCNH1 TRNW MRAS PEX12 CIDEC SLX4 PCCA PALB2 PEX10 DHFR OCLN PFKM CASK GLB1 ACADVL COX8A BBS4 TREX1 STX11 AGA POU6F2 ABCG8 TBX19 DAXX HGSNAT CEP290 LIPA MARS1 LRP5 BCS1L SLC25A20 FCGR2A PSMB8 FANCA ARSA CLCN7 MST1 PEX12 TRAPPC11 NCF4 NDUFS6 ARSB CFTR LYST RAG1 TPP2 NBAS FOXF1 UROD F5 ARSA AP1S1 XRCC2 TMEM67 ITCH WDR19 OFD1 UGT1A1 B2M WT1 PDGFRB HYMAI TRAPPC11 UNC13D SRD5A3 SRP54 AGPAT2 TNNI3 TINF2 RHAG HSD17B4 DCLRE1C HSD3B7 NPHP1 ACAT1 ABCA1 PMM2 GTF2IRD1 ND5 IFT80 COG8 UFD1 LETM1 SLC26A4 NDUFS8 NDUFAF3 FANCB SP110 TMEM126B HNRNPA2B1 NPC1 GPIHBP1 DPM3 TSHR RFXANK ICOS LPIN2 FANCM CD3D GPC1 SNX10 LDLR JAK2 ERCC6 POU1F1 COX6B1 TMEM199 PCCA CPT1A LHX4 GPC4 HNF1A HBB GANAB PKHD1 XRCC4 KRT8 TET2 COX14 ATP7B HFE SUMF1 OFD1 DGUOK CD3E ALG13 EXTL3 NCF1 PIK3CA CLIP2 COG6 COMT DCDC2 WDPCP SLC4A1 HLA-DRB1 DPM3 SLC5A5 RMRP GLIS3 PEX26 KCNN4 PLEKHM1 DCDC2 DIS3L2 PEX12 LBR RAB27A TRMT5 NDUFS2 PKLR SMAD4 CALR NDUFV1 APC CFH PEX5 TFAM NEU1 NOTCH1 DMPK DUOX2 HIRA DKC1 BRCA1 ADAR UQCRC2 STEAP3 PCK1 PEX19 IFIH1 DOLK CPLX1 MRPL3 MSH6 PMS1 CTSA APC PKD1 STK11 DYNC2I2 PRSS1 ACADM HBB IGLL1 SOS1 LCAT COG6 STX1A HMGCS2 RNF43 TERT G6PD NSD2 CYTB FBP1 C8ORF37 MKS1 BRCA2 IL2RB PEX2 SLC22A5 TP53 HMGCL MAD2L2 PAX4 IQCB1 WDR19 TMEM67 C11ORF95 FOXP3 IL12RB1 ABCG8 BCS1L TRNL1 PRKCD SLC4A1 TALDO1 HNF1A RAF1 MSH6 TANGO2 ADAMTS13 DYNC2H1 ABCA1 BTK RFXANK ND3 PEX13 C1S NEK1 HK1 TERC NDUFB3 ND6 HBB RPS20 CDKN1C AGA TERC H19 FGA RIT1 PYGL NCF1 CR2 IL2RA MYC ACAD9 MKS1 SLC7A7 CAVIN1 KCNQ1 NFKB2 CLDN1 PEPD MMUT GCK ALG8 PRKCD CTC1 IFT122 PMM2 KRT6A NSMCE2 CDKN2B PALB2 EPB42 NDUFS7 PEX16 SCNN1B HAVCR2 HBA2 ASAH1 RNU4ATAC DHCR7 KMT2E KIT TREX1 SPTB AMACR IL17RC PSAP NAB2 SC5D APC IFT172 DMD EIF2AK3 RECQL4 NGLY1 PEX16 NPHP3 PMS2 PIGM A2ML1 POLG TACO1 LYRM4 SETBP1 CASR ALMS1 ATRX TBX19 GUSB CCDC28B ND3 SLCO2A1 EPB41 CPT2 APOE RNU4ATAC SDHD VHL GCDH B3GLCT CDKN1B PRDM16 BBS5 C4B NEUROG3 ARSA SEC63 HYOU1 NHP2 TNFRSF11A SDHC PRKCSH UROS ATPAF2 PEX13 MSH2 PSAP HESX1 COG4 ALDOB RREB1 DDRGK1 CD40LG IFT140 PEX11B ND1 HNF1B SLC39A8 NPHP3 LMNA CFTR COX10 C1QBP AKR1D1 SMPD1 RFT1 LHX3 PEX3 PC NAGA TMEM216 MMUT BTNL2 ABCG8 TRIM37 SLC25A1 POMC MEN1 USP18 PSAP PEX19 FBN1 NDUFS1 PEX1 TNFRSF13C PDGFB ALG9 LIG4 MKS1 GALNS GBA NAGLU COA8 LMNA MAN2B1 CTSC HMGCL KCNJ11 ANK1 TARS2 TGFBR2 DYNC2I1 KRAS TINF2 FLT1 SLC30A10 SP110 GPD1 SMPD1 ACADL NHLRC2 TRMU HADHA HNF4A FAS PKD1 FANCD2 TPI1 TMEM165 PTPRC TCIRG1 ZIC3 COX10 POLG ADA ABCB4 DMPK PEX2 SEMA4A COG2 POLG2 BAZ1B EXTL3 CYP7B1 ABCD3 UQCRB PCSK9 KRT8 NDUFS4 CTLA4 ASXL1 WT1 LRP5 WDPCP DYNC2LI1 ATP7A EARS2 ASS1 GYPC GCGR GBA MPL CDKN1A DUOXA2 TRIM28 GP1BB CTNNB1 CYP7B1 TGFB1 COA8 HPD CLPB PIK3CA EFL1 BBS12 SBDS CAVIN1 MVK ICOS PAX8 PYGL RAD51 GALT NPHP4 SFTPA2 JAG1 MMUT KIT PEX11B BSCL2 SLCO1B3 FAH PSMB9 SLC17A5 IDUA TRNS1 NFKB1 IFT27 GBA TPO INPP5E STAT1 SDCCAG8 BMPR1A TET2 RAG2 HLA-DRB1 HADHB APC XIAP POLG GNPTAB ESCO2 MS4A1 TTC21B SLC30A10 NAGA ATM NDUFA6 MIF AIRE SEC23B BBS7 UQCRFS1 MPV17 NPHP3 MEFV STXBP2 CBS AKT2 RFX5 CEP164 HMOX1 FH APC GBA RAD51C ACSF3 DIS3L2 KRAS NDUFS4 BTNL2 DNAJC19 LMNA SH2D1A HBA2 ABCB11 ALG1 NDUFA1 TBX1 CHD7 SLC25A15 BBS1 NDUFA11 CD96 ALG9 IL12A TNFRSF13B CD28 MLH1 MPC1 RPGRIP1L JAM3 IL7R LZTR1 APPL1 MECP2 IL2RG PRPS1 CIDEC TG PHKG2 DDOST BBS1 POU1F1 ND4 CNTNAP2 WDR19 PARN EOGT TSC1 TRIM37 PEX10 HMBS CTCF C8ORF37 PRKAR1A NPHP1 SPTA1 GPI DLD KRT18 VCP HELLPAR TRNK FASLG TSHR DYNC2I2 GATA6 GABRD ADK SLC20A2 PIEZO1 AGPAT2 PEX10 PEX6 AKT2 CTLA4 COG4 GALT NDUFB9 CSPP1 PHKA2 HBB ITK RNASEH2A KIF20A CBS SUMF1 APOA1 HLA-DRB1 TRNV MPI CD27 UGT1A1 DPAGT1 SLC25A19 CLCN7 CD46 TNFSF12 PSAP RRAS PLPBP IFT172 WDR19 SLC4A1 LACC1 PDGFRL IFIH1 TRHR GALE TNFSF15 APC NDUFS7 PRKCD PNPLA2 TGFB1 IDUA EFL1 NOS3 LIPA NUBPL SNX14 NHP2 DYNC2LI1 CCDC47 LIMK1 LBR CPT2 PDX1 PSAP HNF1A CPOX FANCL EPB42 TERT CD79A SURF1 SLC22A5 LYZ IL36RN ATP11C ND2 KLF11 COG7 LIG4 ARL6 ELN APOA1 CTSK SPTB RELA DPM2 PRKAR1A ERBB3 PCCB CEP55 TJP2 GBE1 RRM2B ABCC2 UGT1A1 CD81 ATP6V1B2 ZAP70 WRAP53 ADA2 MYRF MRPL44 HAMP EPB41 FGFRL1 KLF1 PHKB CLCA4 SAA1 HADH CP BTK ABCB4 ALG2 TERT NDUFV2 TNNT2 PRKCSH HBG2 ERCC8 PHKG2 PEX6 SPINK1 ACVRL1 TNFSF11 IFT172 ATP8B1 LIPE TNFRSF13B PALLD HLA-B CDKN2A MPV17 FADD GCLC CTLA4 NLRP3 KRT18 NDUFB11 CYBC1 PRSS2 VPS33A CA2 HSD3B7 UGT1A1 MYD88 DOCK6 PEX1 AGL GYS2 DZIP1L MAN2B1 GPC4 TIMMDC1 NDUFAF8 NDUFB10 CLDN1 IL21R TMEM70 FASLG ASL PLAGL1 SMAD4 CYP7A1 LMNA CORIN SLC40A1 AP3D1 PEX1 AGGF1 RPGRIP1L LARS1 NOD2 ARVCF DLL4 BPGM RAG2 KIAA0586 INVS COG1 H19-ICR B9D1 FOXRED1 LRPPRC TGFB1 INPPL1 SKI TNFSF11 XIAP RBPJ VPS33B XPR1 HBG1 ABHD5 UBR1 TRIM28 NDUFAF4 FOS IL2RG NR1H4 HFE F5 CLCN7 FAS GNPTAB RNASEH2B GBA IGF2 TRAF3IP1 PPARG RFXAP UBE2T DHDDS MET GLRX5 VPS45 ATP8B1 APOE ANK1 PEX1 PEX16 PPARG SOS2 SLC2A1 TMEM216 ARSA HADHA CDKN2C NAGS PEX11B PEX6 PCCB TTC21B PEX14 PEX5 MYH9 CAV1 ATP8B1 SPIB PRF1 PEX19 RFC2 ERCC4 IL2RG REST MMAA PEX12 KRT16 CLCN7 NCF2 BBS10 SRP54 IDUA MCCC1 STEAP3 STN1 NSD2 ERCC4 ACOX1 PCK2 BBS9 SDHA LMNA GALK1 NLRP1 SCNN1G BBS2 TCIRG1 PEX6 XK BCS1L CASR SLC25A15 FUCA1 SKIV2L GLB1 JMJD1C COA3 G6PC FERMT3 GNAS HBB STAT6 NEUROD1 LZTFL1 PEX5 TNFRSF13C SCYL1 PKD2 SPTB UCP2 TRIP13 PSAP DNAJB11 BRCA2 NELFA SLC25A13 TBX1 CTRC JAK3 CTNNB1 MYPN IDS SBDS LMNA ITCH BRCA1 PCSK1 CSPP1 WDR35 CCDC115 DPM1 CYBB IDUA HOXD13 TCTN2 CR2 GAA FECH ALMS1 ETFDH JAK2 CARS2 BMP2 ELN GNMT HJV PNPLA6 MKKS AHCY SMPD1 NDUFAF2 COX15 PLEKHM1 GATA6 KCNQ1OT1 LMNB2 RNU4ATAC RMRP ABCB4 DDRGK1 PIK3C2A CAV1 RNASEH2C TMEM67 POLR3A CPT2 IL17RA SF3B1 TRNW TBX1 CPT1A HNF4A MMEL1 DCLRE1C PSMB4 JAK2 CIITA TET2 ARL6 POMC ALG6 TRAF3IP1 PIGS CEP290 STOX1 COX20 IRF5 TMEM67 USP9X INTU GBA NGLY1 MFN2 SPECC1L SEC24C BSCL2 TRMU IARS1 CTNS PEX3 COG2 FAS SLC2A1 H19-ICR TMEM107 HAMP SAR1B FGFR2 HADHB HNF1B PEX2 TRMT10C XYLT1 SLC25A4 FLNC SON TNFRSF1B GPC3 ACADM RAG1 TNFRSF1B CEP120 TTC8 FANCE GBA CYBA CBL UGT1A1 SDHB TERT NPHP3 SCO1 NDUFAF5 HNRNPA1 NOTCH2 MET TMEM67 SPTB PGM1 G6PC3 PEX19 SLC25A13 NOP10 MPI IFT80 SEC63 RFWD3 PDGFRA SPRTN TRNE IGF2R SCNN1A ALG11 CD19 PPARG WDR35 TREX1 PARS2 CPT2 SLC39A4 HADHA LHX1 HBB IGHM TTC7A PET100 ABCA1 HNF4A CPA1 GNE SLC29A3 INSR COG8 HADH RFT1 PEX26 SCARB2 HFE DYNC2I1 GNS APOB PEX5 ACVRL1 SLC25A20 CD19 RRM2B TUFM BSCL2 DCTN4 ABCB11 PEX10 BLK BLVRA CYC1 FANCF HNF1B SAMHD1 PEX26 IFT140 AKR1D1 FGFR2 CFTR CC2D2A BRCA2 MAN2B1 ACOX1 NRAS CEP290 MYORG RFXAP CYP19A1 RHBDF2 HBA1 TTC37 CD28 MCM4 CCND1 FARSB FANCG NPC2 TF RERE NRXN1 IL7R TMEM67 PTRH2 MLXIPL KCNJ11 ALDOB LETM1 ATP6 CYP27A1 PEX12 PLIN1 FANCI RPGRIP1L SLC13A5 HBG2 ABCC8 IKZF1 PEX13 APOE PIGA ZAP70 ABCC2 NRAS NKX2-5 PNPLA2 APOC2 SPTA1 TFR2 KRIT1 NSMCE2 RTEL1 EWSR1 SLCO1B3 ATP6AP1 ND1 SLC11A2 SNX10 PEX26 ABHD5 CBL RPGRIP1L ETFA TNPO3 SLC29A3 NPHP3 PKD2 PEX2 ERCC4 TRNN FBP1 NEK8 LRRC8A IER3IP1 SHPK ACAD9 ADAMTSL2 ABCC8 SLC25A13 MRPS7 TRAF3IP2 RMND1 ADA CEP290 FAN1 FAM111B SLC4A1 LBR VPS33A TANGO2 NOTCH2 DYNC2H1 MLH1 TWNK PEX3 PKHD1 BICC1 RHAG PROP1 GNE ETFB ENG GANAB PEX14 INPP5E SC5D YARS2 RBCK1 GTF2I CD247 MVK CEP83 FLI1 LIPT1 GDF2 BMPER KIF23 ANKS6 CASP10 TSHB XRCC4 MMAB KCNN3 RASA2 CA2 ATP7B DNASE1L3 DHCR7 HJV B9D2 IFNGR1 RASGRP1 PEX6 ANTXR1 CIITA COG5 NPM1 SLC37A4 SLCO1B1 LDLRAP1 SLC25A19 POLG2 ALAS2 SLCO1B1 POU2AF1 DNAJC21 COX4I2 SKIV2L SOX10 SCYL1 MUC5B VPS13A MPL COX15 SLC25A13 WT1 HNF4A TP53 TKFC HEXB LMNA TWNK KLF1 VIPAS39 CYBA ABCG5 SRP54 PAX8 PTPN3 CD79B GATA2 TERC SERPINA1 LPL LONP1 KRT17 SRSF2 PTPN11 CYP27A1 KRAS IYD NCF2 NDUFAF1 FANCC FBXL4 GFM1 DLL4 PEX13 WHCR DNAJC19 NLRP3 GUCY2D TBL2 POLD1 HMBS SLC40A1 PEX14 TREX1 PEPD HBA1 TMPRSS6 RBM8A CEP19 AP1S1 PEX3 ACADVL CDKN1B IGF2 CD70 CEL DPM2 RFX6 DGUOK TCF3 ND2 TNFRSF1A CC2D2A CYBB PIK3R1 IL1RN NOP10 DNAJC21 HADHA LIPA TNFSF12 AP1B1 CDAN1 SDHA LYST BBIP1 NHP2 TMEM231 PEX16 PEX3 IL7R HPGD EIF2AK3 BTK ENG CD55 CASP8 IDUA TKT USB1 ZMPSTE24 KRT6B PTEN CLEC7A SMAD4 BTD KPTN RFX5 BCHE AMACR PEX14 TALDO1 DKC1 ALDOA JAM2 FECH GUSB AP3B1 TET2 JAK2 FUCA1 FDX2 KRAS