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Report for Clinical Trial NCT02500147

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Body Composition and Metabolic Manifestations of Insulin Resistance in Adolescents With Polycystic Ovary Syndrome: Ectopic Fat Deposition and Metabolic Markers: Intervention and Follow-up Portion

This project, "A double-blind placebo-controlled randomized clinical trial assessing the efficacy of metformin for hepatic fat in adolescents and young adults with polycystic ovary syndrome", proposes exploring the use of novel and noninvasive methodologies in an at-risk adolescent and young adult population with polycystic ovary syndrome (PCOS) who may gain long-term health benefits from early detection and treatment of non-alcoholic fatty liver disease (NAFLD). PCOS is a common condition that frequently presents in adolescence and young adulthood and is defined by elevated androgens (male hormones) in the blood leading to 1. hirsutism and acne and 2. menstrual abnormalities or amenorrhea. Affected individuals are at increased risk of developing insulin resistance (a precursor of diabetes), NAFLD and lipid (cholesterol) abnormalities.These features are all associated with the metabolic syndrome, a rising major public health concern. Recently, an association between PCOS and NAFLD has been noted but has only been superficially studied in the adolescent and young adult population. The susceptibility of certain PCOS patients to developing NAFLD is theorized to be due to having underlying insulin resistance, elevated androgen levels, and a genetic predisposition. Metformin is an insulin sensitizing medication widely used to treat type 2 diabetes mellitus that may have beneficial effects on insulin resistance-related conditions including PCOS and NAFLD. Although widely used in PCOS, its effect on NAFLD in this group has not been previously studied. The primary aims of this proposal are: 1) To determine whether PCOS with liver fat >/=4.8% treated with metformin for six months will have a decline in percentage liver fat compared to a placebo group. 2) To measure the association of the PNPLA3 I148M allele with NAFLD in PCOS at baseline (n=40). 2b) To measure the association of percentage liver fat with biomarkers of NAFLD, dyslipidemia, insulin resistance and body composition at baseline (n=40) and after a placebo-controlled intervention with metformin in PCOS with liver fat >4.8% (n=20). The goal of this research proposal is to explore the use of novel and noninvasive technologies in a young and at risk population. Dr. Sopher hopes to use the results of this research to lay the groundwork for the prevention and treatment of NAFLD and other metabolic disorders in adolescents and young adults with PCOS and to prevent lifelong morbidity associated with PCOS.

NCT02500147 Polycystic Ovary Syndrome Non-Alcoholic Fatty Liver Disease Metabolic Syndrome
MeSH: Polycystic Ovary Syndrome Liver Diseases Fatty Liver Non-alcoholic Fatty Liver Disease Metabolic Syndrome Syndrome
HPO: Abnormality of the liver Decreased liver function Elevated hepatic transaminase Hepatic steatosis Polycystic ovaries

2 Interventions

Name: Metformin

Description: Metformin ER 500 mg once a day for one week and 1000 mg once a day for the remainder of the six months

Type: Drug

Metformin

Name: Placebo

Description: One placebo pill per day for one week and then two placebo pills per day for the remainder of the six months

Type: Drug

Placebo


Primary Outcomes

Description: To compare percentage liver fat by magnetic resonance spectroscopy in the metformin group and placebo group to baseline and between the groups in order to determine if metformin is efficacious for reducing liver fat compared to placebo in adolescents and young women with Polycystic Ovary Syndrome (PCOS)

Measure: Difference in percentage liver fat between Metformin arm and Placebo arm in adolescents and young adults with PCOS and with elevated percentage liver fat (>/=4.8%)

Time: 6 months

Secondary Outcomes

Description: The proportion of PCOS subjects with the high risk I148M PNPLA3 allele in the PCOS groups with elevated and normal liver fat will be compared using a chi-squared or Fisher's Exact test.

Measure: Proportion of PCOS subjects with the PNPLA3 allele comparing those with elevated percentage liver fat (>/=4.8%) and those with normal percentage liver fat (<4.8%) by magnetic resonance spectroscopy

Time: 6 months

Description: The association of percent liver fat with insulin resistance as measured by HOMA-IR will be measured by correlation/regression. Change in HOMA-IR with change in percent liver fat following metformin will be assessed using multiple regression analysis.

Measure: The association of percentage liver fat by magnetic resonance spectroscopy with insulin resistance as measured by HOMA-IR in adolescents with PCOS

Time: 6 months

Description: The association of percent liver fat with triglycerides will be measured by correlation/regression. Change in triglycerides with change in percent liver fat following metformin will be assessed using multiple regression analysis.

Measure: The association of percentage liver fat with triglycerides

Time: 6 months

Description: The association of percent liver fat with visceral adipose tissue will be measured by correlation/regression. Change in visceral adipose tissue with change in percent liver fat following metformin will be assessed using multiple regression analysis.

Measure: The association of percentage liver fat with visceral adipose tissue

Time: 6 months

Description: The association of percent liver fat with total body adipose tissue will be measured by correlation/regression. Change in total body adipose tissue with change in percent liver fat following metformin will be assessed using multiple regression analysis.

Measure: The association of percentage liver fat with total body adipose tissue

Time: 6 months

Description: The association of percent liver fat with pancreatic polypeptide will be measured by correlation/regression. Change in pancreatic polypeptide with change in percent liver fat following metformin will be assessed using multiple regression analysis.

Measure: The association of percentage liver fat with pancreatic polypeptide

Time: 6 months

Description: The association of percent liver fat with M30 will be measured by correlation/regression. Change in M30 with change in percent liver fat following metformin will be assessed using multiple regression analysis.

Measure: The association of percentage liver fat with M30, a hepatic apoptosis marker

Time: 6 months

Purpose: Treatment

Allocation: Randomized

Parallel Assignment


There is one SNP

SNPs


1 I148M

2) To measure the association of the PNPLA3 I148M allele with NAFLD in PCOS at baseline (n=40). --- I148M ---

The proportion of PCOS subjects with the high risk I148M PNPLA3 allele in the PCOS groups with elevated and normal liver fat will be compared using a chi-squared or Fisher's Exact test.. --- I148M ---

Other IR indices that will be evaluated are whole body insulin sensitivity (WBIS) and insulin area under the curve; 6) Genetic evaluation: A blood sample for the PNPLA3 I148M allele (baseline only). --- I148M ---



HPO Nodes


HPO:
Abnormality of the liver
Genes 1378
CLDN1 GPC3 LETM1 MPL PIEZO1 UBR1 TNFRSF11A CLPB IL17RA HNF1B CCDC115 CYP27A1 CTSC TRIM37 BTK AGPAT2 CASP10 ATP8B1 SDCCAG8 HMBS TREX1 POU1F1 C8ORF37 RMRP SF3B1 WDPCP PAX8 KIT CFTR XRCC4 PRKCD NDUFB10 LMNA ATP8B1 TMEM67 KRT8 PCSK1 HMGCL NSMCE2 PEPD CA2 EPB41 NBAS NGLY1 UQCRB TERC IFT172 ABCA1 PMM2 NPHP3 PSAP AP1S1 MARS1 TTC21B TRMT10C CDKN2C LRP5 GBA NDUFAF5 TREX1 CBS WDR19 SUMF1 KRT17 MKS1 PNPLA6 NDUFV2 TINF2 TBX1 IL2RB NPHP4 NPC2 TMEM67 CYP7B1 CEP290 HOXD13 COX8A MMAB BLK MPI PHKB WDR19 ALG8 HIRA TRIM37 GBA CYP7A1 GBE1 ALG9 WDR60 GNPTAB RNASEH2C AP1S1 NRXN1 LMNA CYBA PEX5 KCNH1 LHX3 COX14 ATPAF2 SLC22A5 NDUFS7 TF GDF2 MPC1 SMPD1 PNPLA2 LHX1 PCCB RBPJ PET100 ICOS CTSA CLDN1 PEX5 KMT2E AP1B1 DUOX2 BPGM LZTR1 ASS1 SLC4A1 PTPRC TBX19 HAMP BMPR1A CDKN1C SPIB PIK3C2A ARVCF CALR ATP6V1B2 RAG2 CDAN1 ABCA1 ITCH B3GLCT MST1 COG6 SLC11A2 B9D2 IGF2 CD28 IDUA MRPS7 PEX13 SCYL1 AMACR IGF2 PEX12 JMJD1C IL12RB1 MEN1 MMEL1 FCGR2A NAGA FLI1 HSD17B4 SLC25A20 KRT6B CYP19A1 TTC37 RHAG CD247 RNU4ATAC TNFRSF1A ATP7B TMPRSS6 MET LDLRAP1 GTF2I HADHA BLNK SHPK KIAA0586 IGF2R COA8 PEX2 BCS1L PMS2 ACVRL1 VPS33B IYD UGT1A1 CPA1 HNF4A NCF1 BCS1L TPP2 RNU4ATAC STAT6 PCCA ND4 NGLY1 POLG ND2 ERCC4 PSAP EFL1 PDGFB PIGM ERCC4 RMND1 MIF TSHR BBS7 FANCD2 ALG6 USP18 MRPL3 PEX6 CLCN7 PEX10 ND1 NOS3 MSH2 GATA6 HMBS SMAD4 SNX10 SPRTN PKHD1 BRCA1 ZIC3 WDR35 ALDH7A1 ETFB PEX10 DUOXA2 ACADVL LETM1 TERT KRT18 APOE SMPD1 WHCR FGFR2 PEX11B INVS RPS20 PRKAR1A CR2 HFE MPL SRD5A3 HAVCR2 CC2D2A AKR1D1 HNRNPA2B1 SLC25A13 NHLRC2 COX15 GPC4 MPI DCLRE1C PSMB8 CTNNB1 DDRGK1 LDLR SGSH KRIT1 BTNL2 SAA1 ASL ALG9 PEX16 BTK MSH6 EWSR1 C4B WDR60 HPD COG4 PSAP MKKS BBS5 FANCL ALG13 MYORG HLA-DRB1 FOXF1 MRAS STN1 AGGF1 LHX4 PIGA TGFB1 GPI WRAP53 RNASEH2A TGFBR2 DNAJB11 DNAJC21 FAS APOA1 ZAP70 DCTN4 APC OSTM1 RRM2B C1S IFT140 DPM2 DGUOK BTNL2 GPC3 ABHD5 SOX10 HADHA PEX11B PEX3 SDHA WDR34 TARS2 NDUFAF1 ACVRL1 DYNC2LI1 DLL4 SLC30A10 GATA6 CTSK KLF1 SLC25A13 ATP6 PIK3CA ALG1 DPM2 PPARG COX4I2 TBX19 SLC25A13 RAD51C RMRP FGA ANK1 SLC5A5 NHP2 DLD G6PC3 CSPP1 HJV NDUFB3 APOB SON RASA2 HBA1 MS4A1 SLC25A15 APC LIG4 ACAD9 TFR2 PALLD APOE SOS1 STOX1 RFWD3 RFC2 CTRC LIPE MCCC1 UROS HBA1 HADHB RAF1 NOP10 LIPA RFXANK STXBP2 UROD TNFRSF1B HLA-B SUMF1 TP53 HBG1 SLC37A4 NHP2 FBP1 PCK1 XK TWNK SDHD SLC25A20 TRNN CD55 IDS IL17F MEFV SLC39A8 LTBP3 FANCI GBA RPGRIP1L PRPS1 PSAP DCDC2 HLA-DRB1 NSD2 PEX6 TET2 BSCL2 SLC29A3 ARSA MAD2L2 ABCC2 PEX3 COG2 ATP11C ABCB11 RFXANK LRPPRC SFTPC TMEM216 CFH ITCH PRKAR1A SBDS LYST LZTFL1 PEX14 GPR35 INTU FANCA STAT1 NSMCE2 CYBC1 LBR FGFRL1 CD96 SLX4 CASP10 RAG2 RPGRIP1L TERT MYD88 UGT1A1 IDUA NOTCH2 DPM1 FAN1 CEP55 CLCN7 HAMP BTD CC2D2A MKS1 CEP83 FARSB RNASEH2A BBS2 GCK ELN DNAJC21 CIITA BOLA3 PALB2 GCLC HADHA MKS1 IL7R PKD2 MICOS13 NAGLU SLC25A4 CD46 LBR TMEM67 DIS3L2 MOGS CYP7B1 PNPLA2 ACAT1 CASK ELN UQCRC2 RFX5 SNX10 IL6 COG8 MLH3 JAM3 NDUFV1 CTLA4 CLCN7 ABCB4 PRSS1 WT1 PPARG STEAP3 ADA TG LMNA PLIN1 XYLT1 ZAP70 UFD1 CAVIN1 EIF2AK3 CFTR CC2D2A TNPO3 TWNK GBA NAGS TMEM67 HNF1A F5 TCIRG1 APOE ATP7A FECH WDPCP ATP8B1 NCF1 ND3 NPHP3 RBM8A POLG2 TSC2 NDUFS7 OFD1 LMNA EFL1 UCP2 PEX13 SLCO1B1 MCM4 ESCO2 CLCN7 CTC1 SDHB MSH6 APC CEP290 PLPBP NOTCH1 PEX12 CYC1 CD70 CASR DOCK6 PLG TMEM70 KCNH1 ARSA LRRC8A FAS ICOS DCDC2 RNF43 PLEKHM1 TCTN2 TFAM VPS33A UGT1A1 HBG2 G6PC TTC8 ALMS1 NCF2 PDX1 GLB1 LIPT1 TNFRSF13C B9D1 PEX5 GANAB CARS2 BBIP1 PEX11B FADD CD79A SLC4A1 BRCA1 RNASEH2B TRNS1 TRNE H19 NEK8 BRCA2 CFTR AIRE NCF2 POLG2 APC F5 NDUFS3 APC TERC DPAGT1 CCND1 HLA-DRB1 CEL MYC PROP1 ALDOA GPC4 NR1H4 ARL6 MVK TRHR DDRGK1 HNF1A CBS DAXX TET2 MVK EOGT DNAJC19 PEX16 TTC21B C8ORF37 IFT27 PIK3R1 TERT SCARB2 LBR PC ADAR HNF4A FAH PEX14 IL36RN TANGO2 BBS1 PEX2 POLG2 NPHP3 PEX1 TCF4 HBA2 PIGS SLCO1B3 TRNK ACOX1 NPHP1 PEX26 PTPN3 WDR19 PEX2 SEMA4A MFN2 TINF2 ETFDH APPL1 GNPTAB PSAP RAG2 AGPAT2 RFXAP HBB USP9X NFKB1 FANCC KCNJ11 IL2RG CNTNAP2 LMNA GYS2 PKHD1 RECQL4 ERCC8 GBA AMACR KRT18 HMGCS2 MYBPC3 GUSB VCP PEX13 SP110 PRKCSH CDKN1B TET2 CSPP1 MMUT UBE2T FBP1 RRM2B KIF23 JAK2 PEX1 IER3IP1 DZIP1L SPINK1 ND5 GUSB SBDS PEX1 FERMT3 ABCG8 LYRM4 B2M JAK2 DPM3 NLRP3 POU2AF1 BRCA2 TYMP LYZ PKD1 PEX12 BSCL2 RFX5 IDUA HBB RASGRP1 NOP10 HYMAI HYOU1 CASR ENG DHCR7 HBA2 IFT172 NUBPL PTRH2 CEP19 KCNN3 CC2D2A TMEM199 RPGRIP1L PEX19 ADK SEC63 WT1 SURF1 ERCC4 HNRNPA1 VIPAS39 RRAS2 BCS1L KLF1 GPC1 TCIRG1 RELA COX6B1 HSD3B7 CPT2 COX15 TSHR IFNGR1 CPT2 PKLR PLAGL1 FANCF ND2 SDHA HEXB NRAS RFXAP KLF11 MECP2 INPP5E TRMU NDUFA11 IFIH1 H19-ICR ASAH1 SLC7A7 TRIM28 SLCO2A1 CLCA4 MLXIPL CLIP2 BMP2 BRCA2 DMD DPM3 POU6F2 DHFR CTBP1 STEAP3 PARS2 SERPINA1 NDUFS2 SPTA1 PRF1 ABCB4 INSR LIG4 CEP290 PAX8 ABCD3 KCNN4 TMEM107 SDCCAG8 CIITA SEC23B MUC5B PRSS1 NPM1 ITK MSH2 SEC63 SRP54 IFIH1 XPR1 IFT172 SLC13A5 STX11 JAK2 TBL2 ALMS1 KRT6A COX20 ABCG8 BSCL2 SLC17A5 NPHP3 TRMT5 COG7 FAH PHKG2 ABCC2 POMC TNFRSF13C SEC24C FANCG IDUA IL2RG PEX26 GALNS SLC40A1 FUCA1 TRAPPC11 TSFM SPTB CD3E GNE TCF3 SLC29A3 PEX3 COMT CA2 SAR1B AGA CDKN2A CLEC7A SKI SPTB POLG KRAS GPC3 SMPD1 REST SPTA1 SLC7A7 AKT2 IFT122 PEX14 SPECC1L FAM111B EPB42 GYPC HFE GPD1 SLC20A2 PEX10 CORIN GNS ALAS2 CD79B PEX6 PRDM16 FOS BBS10 PDGFRA SLC30A10 NDUFAF3 MPV17 HADHA GBA IL1RN GBA BBS1 GNAS HBB SLC25A15 CAV1 XRCC4 CPT1A PEX13 FANCB KRAS STX1A FECH RAD51 SCYL1 TNFRSF13B MMUT LIPA NDUFS1 GABRD ANTXR1 ADAMTSL2 GP1BB PEX14 POLR3A COG1 SKIV2L VPS13A PFKM RFT1 KRAS ARSA SMAD4 PPARG DIS3L2 INPPL1 NDUFS4 ACAD9 AP3B1 NOTCH2 NLRP3 GATA2 TTC7A SC5D AKT2 SKIV2L JAK3 DDOST ADAMTS13 PRKCSH PAX4 RTEL1 VHL FASTKD2 HBB NEK1 NDUFA6 ALG8 RPGRIP1 ATP7B NPHP1 INSR IL7R OFD1 SPTB CDKN1A CASR PEX1 XRCC2 CD19 PEX10 ALDOB TRIM28 PCSK9 RPGRIP1L ANKS6 CYBB PSAP TPO PSMB4 CPT2 LIPE WT1 APOC2 IFT80 PTPN11 KIT ARSB SP110 AGL HSD3B7 NDUFS6 ASAH1 PEX19 SOS2 CFTR KCNQ1OT1 NKX2-5 CD27 PEX12 RFT1 RRAS NDUFB9 LPIN2 RREB1 GCGR TGFB1 PEPD UNC13D RNU4ATAC STK11 DOLK LONP1 TIMMDC1 APC IL12A BTK BCS1L PDGFRA SCO1 FOXRED1 PHKG2 CD81 EPB42 DKC1 SMAD4 STK11 PRKCD ACSF3 C11ORF95 ATP6AP1 IFT80 COX10 CEP290 NLRP1 TMEM126B HBG2 NLRC4 COX10 DYNC2H1 PDGFRL TNFSF12 KAT6B FLT1 TMEM216 ADA FASLG IFT43 NDUFAF2 TREX1 CTRC DNAJC19 BMPER SPINK1 RIT1 BBS9 ERCC6 NDUFA1 MPV17 TMEM67 BAZ1B POLG KRAS TRNW LACC1 GALK1 ARHGAP31 COA8 ND6 BSCL2 HNF1A CIDEC FASLG INS NFKB2 WDR35 ABCC8 TRNV NEU1 RERE IQCB1 PLEKHM1 DLL4 ACADM SLC25A13 RHAG ETFA TRMU SLC26A4 GBA TACO1 CPT1A TNFSF11 HNF1B IL17RC FAN1 TBX1 UGT1A1 NEUROD1 RBCK1 GTF2IRD1 CDKN2B HK1 CTNNB1 POLD1 G6PD IFT140 ERBB3 C1QBP PARN LARS1 ALG11 ARSA HELLPAR PMM2 TNFSF15 LCAT ICOS TNFSF12 DMPK GLRX5 USB1 NAGA FAS IL21R TTC7A SLC39A4 AGA FBN1 PYGL MYRF PRSS2 ENG MLH1 ABCC8 CTNS PCCB PEX3 TALDO1 HPGD NDUFAF4 NPHP3 SLC4A1 ALDOB CCDC47 JAG1 COG5 PKLR TNFRSF13B COG8 MRPS16 TSC1 ALG2 FBXL4 EIF2AK3 FUCA1 NPC1 CPOX GLB1 NEUROG3 KCNQ1 GLIS3 VPS45 ABHD5 EXTL3 WDR34 CAVIN1 PTEN TRIM32 GBA FGFR2 CFI PEX26 TALDO1 HBB AXIN1 SRD5A3 KCNJ11 UGT1A1 COG4 IDUA FANCE FANCM IGHM SLC2A1 TRAF3IP2 PEX6 HJV TRAF3IP1 HNF1B TP53 POU1F1 CEP120 SLC22A5 PSMB8 TNFRSF1B SLC25A19 DNASE1L3 PEX26 PDGFRB SLC37A4 HMOX1 HGSNAT SETBP1 CR2 ACADL CEP164 TMEM165 HADH SFTPA2 MET AP3D1 ACADM LRP5 HNF4A H19 NDUFB11 EARS2 PEX3 PMS1 BRAF ATP7A BBS12 IFT172 TJP2 KRT16 ABCG5 DYNC2H1 GDF2 AHCY CD19 ACADVL GUCY2D HMGCL DLD TNFSF11 CYBB GNMT TRIP13 SLC40A1 GAA CYBA DHDDS ABCB4 RAG1 TREX1 TTC37 JAK2 MLH1 PSMB9 NSD2 WDR35 SLCO1B1 LMNA LMNB2 SDHC TERC CAV1 RAG1 PEX1 OCLN HBB FOXP3 CIDEC PLIN1 LYST PEX5 BCHE A2ML1 INPP5E ABCG8 CD3D CYP27A1 COG2 MMAA CPLX1 TRNW PEX2 SETBP1 CTLA4 DCLRE1C HESX1 TGFB1 CTLA4 XIAP IL7R LIPA TMEM67 NOD2 NELFA IL2RG RFX6 EPB41 RAG1 TRAPPC11 SLC25A1 RHBDF2 IGLL1 PIK3CA POMC LMNA SERPINA1 LIMK1 GALE TSHB ABCB11 DYNC2LI1 NDUFAF1 GALT SLC2A1 CCDC28B GALT ANK1 SC5D SLC35A2 TRNL1 PEX12 WDR19 DHCR7 AKR1D1 PGM1 IL2RA TMEM231 ND1 BLVRA NDUFS8 ACOX1 ATM FDX2 MRPL44 IKZF1 PRKCD ATRX CASP8 HFE MYH9 SH2D1A PEX16 PCK2 PEX19 H19 ADA2 RHAG HNF4A NAB2 XIAP CDKN1B CHD7 LPL FH ALAS2 C15ORF41 TRAF3IP1 HADH RNASEH2C EPCAM SLC25A19 PEX16 PEX6 NHP2 CD40LG ZMPSTE24 PHKA2 RAB27A SRP54 DKC1 TPI1 TUFM CD28 ND3 GLB1 DGUOK MMUT GPIHBP1 PEX19 HADHB NCF4 NRAS PALB2 BRIP1 AUH PHKA2 TCIRG1 YARS2 BBS4 ABCA1 GFM1 SLCO1B3 KCNAB2 PCCA MAN2B1 IRF5 APOA1 KRT8 CP TBX1 GNE CPT2 NDUFS4 GCDH TERT SAMHD1 IARS1
Decreased liver function
Genes 225
UBR1 ND5 MPV17 POLG TRNW CCDC115 COA8 F13A1 ND6 SLC25A15 ACAD9 AGPAT2 PORCN TRNV POU2AF1 STT3B NDUFAF3 TRNT HADHB NOP10 LIPA GBA HLA-B TACO1 NHP2 PCK1 COQ2 CEP164 SLC25A20 TMEM199 TRNN RPGRIP1L PEX19 ADK PEX16 NHLRC1 NBAS IFT172 ALG8 MARS1 CACNA1S TRMT10C GPC1 PARN PEX6 BSCL2 LARS1 COX6B1 TNFSF15 PEX3 COG2 HSD3B7 CPT2 USB1 ND2 ITCH IL21R LARS2 DDOST TRMU GPR35 ENG CYP7B1 SURF1 COX8A NHLRC1 MPI ALG8 SLC7A7 ALDOB CCDC47 GBE1 JAG1 NPC1 FARSB PARS2 SERPINA1 COX14 CAVIN1 SMPD1 ABCD3 NDUFS2 PEX26 TALDO1 PET100 NPM1 PEX5 MEFV MICOS13 COG4 COX20 CYP7B1 COG7 FAH SPIB UQCRC2 PHKG2 MST1 MRPS7 SCYL1 AMACR IL12RB1 HADH ACADM MMEL1 EIF2AK3 PEX2 CC2D2A TJP2 TNPO3 TMEM67 GDF2 ATP7B IFT122 DLD F5 PTPN22 FECH RYR1 PEX14 COA8 TTC37 PEX2 JAK2 PEX10 ND3 FADD ACVRL1 MTM1 TERC PEX1 FOS SLC30A10 OCLN PEX13 BCS1L CTC1 ND4 SLC25A15 CAV1 INPP5E PEX12 CPT1A CYC1 FECH SCYL1 RMND1 LIPA VPS13A USP18 SMAD4 XIAP ACAD9 TFAM RTEL1 FASTKD2 ALMS1 LIPT1 NDUFB8 GANAB ATP7B FADD PEX11B GALT TRNS1 GALT PEX10 SC5D TRNL1 AKR1D1 F13B AKR1D1 MPI ND1 BLVRA HLA-DRB1 NR1H4 RNU12 SP110 PEX26 IKZF1 ATRX EPM2A ALG6 DAXX SH2D1A PCK2 PEX19 PEX16 COG4 SCO2 PEX10 FH FAH HADH POLG2 TCF4 TRNK WRAP53 OTC IL12A PEX6 ALG1 ALG9 TINF2 SCO1 DKC1 OSTM1 DGUOK BTNL2 COX10 HADHA PHKA2 GFM1 MOGS IRF5 ATP6 PEX13 PPARG CPT2 NDUFS4 TERT EPM2A DLD IARS1
Elevated hepatic transaminase
Genes 272
IER3IP1 SBDS MPV17 CLPB POLG HNF1B CCDC115 MS4A1 BSCL2 HNF1A ACAD9 TFR2 AGPAT2 NFKB2 DPM3 PALLD STOX1 TYMP TREX1 ACADM SLC25A13 HLA-B CPT1A SLC37A4 FBP1 HNF1B IFT172 TWNK ATP8B1 SDHD SLC25A20 RBCK1 TMEM199 HMGCL RPGRIP1L ADK NBAS NGLY1 PMM2 RPGRIP1L POLD1 MARS1 DCDC2 VIPAS39 TRMT10C C1QBP GPC1 BSCL2 LARS1 ALG11 HELLPAR PMM2 HSD3B7 CPT2 TREX1 ICOS TNFSF12 GLRX5 CFH PYGL TRMU GPR35 TMEM67 CYP7B1 NSMCE2 SLC7A7 DPM1 JAG1 FAN1 RNASEH2C COG5 TNFRSF13B COG8 MRPS16 NRXN1 BMP2 HAMP BRCA2 FBXL4 DMD DPM3 CC2D2A FARSB RNASEH2A SLC22A5 ABCB4 CAVIN1 GDF2 ABCD3 PNPLA2 CFI LHX1 PRSS1 SRD5A3 MICOS13 SRP54 IFIH1 COG4 SLC25A4 CD46 ALMS1 HJV HAMP CYP7B1 HNF1B TP53 PNPLA2 COG7 SLC22A5 FAH UQCRC2 RAG2 PHKG2 TNFRSF13C MST1 COG8 COG6 ABCB4 TRAPPC11 CR2 STEAP3 AMACR TMEM165 ACADM HNF4A SAR1B CAVIN1 HSD17B4 EIF2AK3 CDKN2A SLC25A20 CC2D2A POLG TWNK TMEM67 AHCY ATP7B CD19 HADHA ACADVL DLD F5 KIAA0586 GNMT DHDDS ABCB4 TREX1 JAK2 GPD1 PSMB9 CORIN WDR35 POLG2 ALAS2 VPS33B RAG1 FOS OFD1 SLC30A10 OCLN FOXP3 BCS1L MPV17 NGLY1 GNAS SLC25A15 POLG CAV1 INPP5E CPT1A ERCC4 CYC1 KRAS COG2 ALG6 VPS13A USP18 MRPL3 NOS3 ACAD9 TFAM SC5D DDOST G6PC TRAPPC11 SERPINA1 LIPT1 BRCA1 RNASEH2B ALDOB SRD5A3 SLC35A2 AKR1D1 POLG2 AKR1D1 PGM1 PSMB8 PSMB4 CPT2 DPAGT1 ACOX1 ATM NR1H4 MRPL44 SP110 AGL HSD3B7 IKZF1 PRKCD ATRX HFE CBS ASL MYH9 DAXX PEX16 MVK PEX19 CFTR DNAJC19 ADA2 HNF4A COG4 C8ORF37 LBR ADAR ALAS2 HADH RNASEH2C TANGO2 DOLK POLG2 TCF4 RNASEH2A PHKA2 DNAJC21 PHKG2 CD81 RRM2B SMAD4 DPM2 AGPAT2 ACSF3 DGUOK HBB NFKB1 ATP6AP1 HADHB ABHD5 PALB2 CNTNAP2 PHKA2 YARS2 GYS2 TNFSF12 FLT1 SLC30A10 SLC25A13 CTRC PEX13 DPM2 PPARG SLC25A13 GNE CPT2 CSPP1 SPINK1 RRM2B KIF23 SAMHD1 DLD IARS1
Hepatic steatosis
Genes 137
ATP7B LDLRAP1 MPV17 CLPB APOE APOB SLC40A1 POLG HNF1B COA8 ABCG8 BSCL2 HFE GPD1 BCS1L CIDEC ACAD9 LYRM4 AGPAT2 LMNA LMNB2 PRDM16 CAV1 FOS LMNA TYMP LIPE RERE BCS1L MPV17 BSCL2 CIDEC MCCC1 ACADM PLIN1 SLC25A13 HADHB ETFA CAV1 XRCC4 CPT1A FBP1 PCK1 PTRH2 CEP19 RMND1 LMNA GABRD POLR3A TMEM199 NSMCE2 PPARG ADK ACAD9 LIPA TFAM NGLY1 PMM2 HNRNPA1 VPS33A AKT2 POLD1 MARS1 DDOST TRAPPC11 ETFB ACADVL BSCL2 ALMS1 LMNA LARS1 CPT2 CBS CARS2 COX15 NDUFAF1 LRPPRC ALDOB PCSK9 HNRNPA2B1 TRMU PGM1 NSMCE2 CPT2 LIPE ACOX1 LDLR CYP7A1 MRPL44 PCK2 DNAJC19 LMNA FARSB ABHD5 CAVIN1 PNPLA2 HADH ZMPSTE24 ETFDH ALMS1 PNPLA2 SLC22A5 PHKG2 AGPAT2 DGUOK ATP6AP1 COG6 ABHD5 HADHA PHKA2 SLC40A1 TARS2 LMNA TRAPPC11 PPARG MRPS7 KCNAB2 ACADL HADH SLC25A13 ACADM VCP HNF4A PLIN1 PPARG EARS2 SAR1B CAVIN1 SLC25A13 HSD17B4 DNAJC19 RRM2B SKI CYP19A1 IARS1 POLG ABCG5
Polycystic ovaries
Genes 81
SRY LIPE CYB5A NR0B1 INSR GTF2I ATM DMRT1 AKT1 BAZ1B HNF1A CLIP2 BSCL2 SRY LMNB2 SDHC MAP3K1 HSD3B2 CORIN LMNA AGPAT2 NR0B1 MMP2 ELN CBX2 FSHR FOS NR5A1 STOX1 RFC2 CAVIN1 ANTXR2 CYP11B1 CIDEC CYP17A1 STK11 PLIN1 GNAS SOX3 MMP14 KLLN CAV1 SDHD WT1 SEC23B PTEN PIK3CA POR TBL2 LMNA NR5A1 GTF2IRD1 SOX9 SOX9 LMNA PPARG ESR1 PTEN AGPAT2 MSX1 SOX9 AKT2 NR5A1 CYP17A1 LMNA BSCL2 ALMS1 PPARG LMNA FLT1 SDHB SRY LIMK1 POR PTEN PRKAR1A PPARG DHH SETD2 CYP19A1 AKT1