SNPMiner Trials by Shray Alag


SNPMiner SNPMiner Trials (Home Page)


Report for SNP rs3813929

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There are 2 clinical trials

Clinical Trials


1 Prospective Pharmacogenetic Testing and Clinical Outcomes in Patients With Early-Phase Psychosis

This study evaluates whether prospective pharmacogenetic testing is cost-effective in affecting clinical treatment outcomes in patients with early-phase psychosis.

NCT02566057 Schizophrenia Schizoaffective Disorder Schizophreniform Disorder Psychotic Disorders Bipolar Disorder Biological: PGx testing guided treatment (PGT)
MeSH: Disease Schizophrenia Bipolar Disorder Psychotic Disorders Mental Disorders
HPO: Bipolar affective disorder Mania Psychosis Schizophrenia

For example, the serotonin 2C receptor gene (HTR2C) has variants that protect patients from antipsychotic drug induced weight gain (-759C/T, rs3813929); a deletion variant of the dopamine D2 receptor gene (DRD2) suggests poor efficacy with antipsychotic drug treatment (-141C Ins/Del, rs1799732); the short allele of the serotonin transporter gene (SLC6A4) is associated with antidepressant side effects.

Primary Outcomes

Description: Due to lack of efficacy or intolerability

Measure: Time to Discontinuation of First Medication

Time: 12 months

Secondary Outcomes

Description: The clinician is asked to fill out a questionnaire elaborating the medication decision-making process for each patient, including whether or not acting on the genetic information provided clinically relevant information.

Measure: Prescribing Behavior Change Based on the Results of the Pharmacogenetic Testing

Time: 12 months

Other Outcomes

Description: Assessed by Brief Psychiatric Rating Scale (BPRS)

Measure: Treatment Efficacy

Time: 12 months

Description: Assessed by measures including Hillside Adverse Events Rating Scale (HAERS), Simpson-Angus Rating Scale for Extrapyramidal Symptoms (SARSES), Barnes Rating Scale for Drug-Induced Akathisia (BRSDIA), Abnormal Involuntary Movement Scale (AIMS)

Measure: Adverse Drug Response

Time: 12 months

Description: Examine overall medical costs (including outpatient visits, procedures, hospitalizations, other professional charges, laboratory charges, and medication costs), as well as costs specifically associated with treatment of psychiatric symptoms based upon ICD9 code (for procedures and visits) and medication category. This information will be provided by insurance company for patients with ValueOptions insurance coverage.

Measure: Treatment Services Utilized

Time: 12 months

2 Clozapine Induced Weight Gain: A Pharmacogenetic Study

Clozapine is prescribed to patients with psychosis in whom other treatments have not worked. Research has shown, however, that clozapine may be associated with weight gain and abnormal blood sugar levels in some patients. There is strong evidence to suggest that genetic variation between individuals plays an important role in the development of these side effects in response to the medication. Our research aims to evaluate the effects of two genes and the blood level of clozapine on side-effects such as weight changes and blood sugar levels in patients receiving clozapine treatment. From out-patient clinics in Cwm Taf UHB, the investigators aim to recruit 160 patients who are taking clozapine; collect information/ measurements from recruits relating to size/ weight/ BMI, risk of diabetes and blood samples to measure markers of blood sugar, fat/lipids, clozapine and its breakdown products, blood cells and variants of two specific genes. From this information the investigators will be particularly interested to understand if there is any association between the variation in these two genes with weight gain or changes in blood sugar, in patients taking clozapine.

NCT03996356 Weight Gain Antipsychotic Agents Pharmacogenetics Other: No study intervention - observational study
MeSH: Body Weight Weight Gain
HPO: Increased body weight

SNPs will be determined by polymerase chain reaction followed by restriction fragment length polymorphism analysis to determine (c.-2548G or c.-2548A) .. Serotonin 5-HT 2C receptor gene single nucleotide polymorphisms (SNPs) (rs3813929).

Primary Outcomes

Description: BMI will be calculated by weight (kg)/ height^2 (m^2).

Measure: Body-mass index (BMI)

Time: 12 months

Description: SNPs will be determined by polymerase chain reaction followed by restriction fragment length polymorphism analysis to determine (c.-2548G or c.-2548A) .

Measure: Leptin gene promoter region single nucleotide polymorphisms (SNPs) (rs7799039)

Time: 12 months

Description: SNPs will be determined by polymerase chain reaction followed by restriction fragment length polymorphism analysis to determine (c.-759C or c.-759T) .

Measure: Serotonin 5-HT 2C receptor gene single nucleotide polymorphisms (SNPs) (rs3813929)

Time: 12 months

Secondary Outcomes

Description: Haemoglobin A1c concentrations will be determined by ion-exchange HPLC (G8, Tosoh, Amsterdam, Netherlands)

Measure: Blood haemoglobin A1c concentration

Time: 6 months

Description: Waist:hip ratio will be calculated by waist circumference (cm)/hips circumference (cm)

Measure: Waist:hip ratio

Time: 12 months

Description: Serum lipid profiles will include total cholesterol, HDL cholesterol, LDL cholesterol and triglyceride. These will be measured by enzymatic colorimetric methods on cobas-Roche analysers (Roche, Burges Hill, UK) except LDL cholesterol, which will be calculated using the Friedewald equation ([LDL cholesterol] = [Total cholesterol] - ([Triglyceride] / 2.2) - [HDL cholesterol]

Measure: Lipid profile

Time: 12 months

Description: Clinical Global Impression (CGI) scale is a validated tool to assess clozapine side effects (Ref: Guy W, editor. ECDEU Assessment Manual for Psychopharmacology. 1976. Rockville,MD, U.S. Department of Health, Education, and Welfare)

Measure: Clozapine side effects assessment by Clinical Global Impression (CGI) scale

Time: 12 months

Description: Clozapine:nor clozapine ratio is calculated by clozapine (ug/L)/ nor clozapine (ug/L) both measured by high-performance liquid chromatography with diode-array detection.

Measure: Clozapine:nor clozapine ratio

Time: 12 months


HPO Nodes


Schizophrenia
Genes 71
USH1C RTN4R USH1G HIRA UPF3B GJA5 DNAJC13 DNMT3A KRT86 HTR2A APOL4 CLRN1 DRD3 CEP78 ARSG MSTO1 TRNE PRODH RREB1 GIGYF2 PDZD7 MTHFR RBM12 ADGRV1 NKX2-1 TRNS2 KRT83 SNCA MYO7A COMT CIB2 PCDH15 WHRN TBX1 GP1BB DSG4 ZDHHC9 ARSA ARVCF WFS1 PRODH PSAP APOL2 SEC24C KRT81 LRRK2 CHI3L1 MYO7A ATP2A2 SHANK3 SYN2 EIF4G1 CHRNA7 GBA FLI1 MED12 VPS35 JMJD1C MSTO1 USH2A AKT1 GJA8 TBX1 COMT UFD1 PRODH DISC2 TBX1 HARS1 CDH23 DAOA
Increased body weight
Genes 513
MTMR14 PDE6A IDH3A ALG13 CANT1 PRKAR1A WDR34 PCARE EIF2S3 RP1 CTSH RAI1 PIGL LZTFL1 MTFMT TTC8 PPARG ANOS1 IQSEC2 IQSEC2 C8ORF37 TMEM67 RNPC3 MKRN3 FLRT3 MYT1L SNRNP200 BBS4 IFT172 CEP19 PROKR2 EMD EYS SLC25A4 LEPR KIDINS220 THOC2 PCSK1 PRPF4 ARL6 USP9X RDH12 IGF1 IFT172 ARL3 SOX10 PDE11A FGFR3 NR2E3 CUL4B RAB23 PAX6 ARL2BP DYRK1B GNAS GLI3 PRPF31 PNPLA6 SUFU PRCD RLBP1 FTO KLF11 TBX1 BLK INPP5E HIRA CYP7A1 TMEM43 DHDDS MEN1 BBS5 KCNJ11 MLXIPL LEP CLIP2 WNT4 IFT140 RP2 REEP6 TRIP4 EP300 FHL1 PDE4D SH2B1 CNGA1 CNNM2 PAK3 BRAF TNFSF4 IQSEC2 SDCCAG8 MOG TRAPPC9 SDC3 HLA-DQB1 TBL2 POMC ALMS1 PTCHD1 PRPH2 PSMD12 SH3KBP1 SNORD115-1 HSD11B1 ARVCF PRPF8 POMC GUCA1B ATRX SEC24C POMGNT1 ZNF365 SUFU ARMC5 CLCN4 HACE1 RBMX AP4E1 KIAA1549 SLC9A7 SH2B1 IFT27 GNAS EIF2S3 JMJD1C FGF17 COMT MKS1 ZNF81 HERC2 SKI CYP19A1 MKKS SOX2 ATP7B SLC7A7 GTF2I AKT2 MID2 SIM1 SMARCB1 DNMT3A ENPP1 PRPF6 ZNF408 PRDM16 FGFR1 PROM1 ERMARD BBS10 AIP HNF4A NPAP1 BEST1 GATA4 BBS1 ABCC8 TUB THOC2 P4HTM TBX3 KMT2A BBS7 GABRD GP1BB WDR11 RP9 AP4M1 GNAS XRCC4 IGSF1 PAX6 SDCCAG8 RBP3 ADRB3 GNAS PAX4 NSMF NPHP1 RAI1 ATP6AP2 GNAS-AS1 MTOR USP8 MAK KCNJ18 CCDC141 IMPDH1 PDSS1 NIPBL ADNP DPYD SETD2 NR0B2 MED12 NDN FAM161A HESX1 NRL BBS10 GHRL DUSP6 LAS1L PRKACA MKKS P2RY11 BBS5 MEGF8 ZNF711 RREB1 H6PD PIGA HESX1 SIN3A CNKSR2 KIDINS220 BBS12 FRMPD4 IFT74 TRIM32 BLK AFF4 POGZ ALB GABRA3 TSPAN7 SLC10A7 SYNE2 CREBBP GNAS RPS6KA3 ANK3 OFD1 IFT172 APC2 PRKAR1A RPGR BBS9 SNORD116-1 IL1RAPL1 OTX2 NSD1 HACE1 PCSK1 FGFR1 SETD2 BAZ1B EHMT1 UBE2A ZNF41 HNF1A EDNRB INS PROK2 POU3F4 IFT88 PDE6B GNAS ABCC8 RGR ARL13B KMT2D GHR GNAS NEK2 RFC2 CA4 LIPE RERE MAPK8IP3 RHO SCAPER THRA BPTF RAP1A DLG3 BBS9 PCNT LEP IGFALS CRB1 RPS6KA3 TBX1 NEUROD1 CEP164 GTF2IRD1 RAI1 SIM1 MECP2 FIBP ARX SMC3 PHIP TRIP12 DNM2 CARTPT NTRK2 HELLPAR HDAC8 AGTR2 SEMA3A BRAF AHR PWRN1 CFH OFD1 SETD5 ADNP LZTFL1 PROK2 ABCC8 KISS1R CEP290 MTOR HS6ST1 CDHR1 AP4B1 DEAF1 MAN1B1 RAP1B CTNNB1 TMCO1 USP8 BBS2 GCK UPF3B ELN MAN1B1 PTEN TRIM32 CFI MKS1 ROM1 AP4S1 BBS2 LEPR KCNJ11 MRAP2 PRPF3 CD46 PDGFB LRAT TRAF3IP1 HDAC8 SPRY4 ELN SRY FEZF1 VPS13B TACR3 KIF7 TAF1 RAB23 FOXP1 HDAC8 CERKL CLRN1 AGRP BBS2 MOG TOPORS ARNT2 ARHGEF6 FMR1 USP27X SHANK3 PIGN XYLT1 TP53 VPS13B SMAD4 UFD1 EGF UCP3 BBS12 IFT172 ABCC9 SNRPN CACNA1S USH2A HNF1A ACADVL ADRB2 MEGF8 C8ORF37 APOE WDPCP IGF1R CCDC141 NIN IPW MAGEL2 GDI1 NF2 HGSNAT ARL6 UCP2 HUWE1 PIGT RYR1 SEMA4A EHMT1 SYP IDH3B PRMT7 CEP290 PCNT SH2B1 HDAC4 ADCY3 TTC8 CHD7 AKT2 ABCA4 LMNA HCRT MC4R DMD ZNF513 BIN1 CRX SYNE1 XYLT1 BDNF TBX3 MC3R KLHL7 DCC SPG11 RNF135 TTC8 POMC ALMS1 FTSJ1 PDX1 KDM6A LIMK1 BBIP1 BBS7 RPE65 CCDC28B EXOC6B BBIP1 PTCH1 AHI1 ARMC5 AGBL5 PDE4D TULP1 SMC1A DHX38 CEL ARL6 MAGEL2 PROKR2 HLA-DRB1 MKRN3-AS1 SHOX RAD21 IMPG2 HNF4A ZNF711 C8ORF37 IFT27 PWAR1 MYF6 PNKP FGF8 DIS3L2 HNF4A CDH23 BBS1 WT1 GNAS MTTP ZBTB20 KIZ APPL1 FLII IL17RD SPATA7 MERTK KCNJ11 TCF20 MECP2 CXORF56 LMNA BBS4 SLC7A14 SOX3 MC4R LAS1L KCNAB2 CUL4B PDE6G ARHGEF18 SAG RAB39B STX16 UBE3A ACSL4 TBX1 MCM3AP TUB ATRX FSCN2 PHF6 TRAPPC9 PHF6 WT1 CNGB1 HCFC1
Mania
Genes 29
TWNK RPS6KA3 TBX1 GP1BB HIRA RRM2B ARVCF FA2H SEC24C DNMT3A ATP2A2 MECP2 POLG2 CLCN4 CHRNA7 FLI1 JMJD1C SMPD1 RREB1 USP8 CDH23 SLC25A13 CLCN4 TBX1 COMT POLG UFD1 TBX1 SLC25A4
Psychosis
Genes 116
TWNK SNRPN GRN NAGS SNORD116-1 SLC7A7 PRKAR1A UPF3B TREX1 TREM2 TRNH WFS1 IPW CLN8 ALDH5A1 SPART PCDH19 ND4 AIP NPAP1 LMBRD1 TRNL1 MKRN3 SLC25A13 PSEN1 ABCD1 MECP2 C1R TRNQ NDP RPS6KA3 PTPN22 ZDHHC9 STAT4 ATXN7 TRNS2 PRDM8 VCP HMBS GSS DCAF17 PARK7 FCGR2B PDE11A ITM2B TBC1D7 ZFYVE26 SPP1 TRNS1 PANK2 SQSTM1 CTLA4 PDGFB PWRN1 USP8 MED12 SLC20A2 HFE NPC2 NHLRC1 SLC12A6 C9ORF72 NDN COX1 CHMP2B MAGEL2 CBS MKRN3-AS1 EPM2A TRNF VPS13A PAH ALDH18A1 PAK3 NPC1 ND1 USP8 TMEM106B PWAR1 MAPT PDGFB KCNT1 TRNW COX3 NDP ALAD GCLC CDH23 PCDH19 C1QA C9ORF72 PRNP CLN3 MYORG COX2 DNASE1 PPOX SLC6A19 SOBP DCAF17 SNORD115-1 WFS1 IRAK1 FCGR2A ND6 TTC19 SH2B1 MED12 GNAS DNMT1 ND5 CACNA1A ACADS HERC2 PDGFRB ATP13A2