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


HP:0004324: Increased body weight
Genes 521
MID2 LMNA PDE11A BBS10 HGSNAT ABCC8 GABRA3 RP1 ADRB2 AKT2 CXORF56 OFD1 APPL1 TRIP12 LAS1L CCDC141 ABCC9 CARTPT CHD7 MAK TACR3 FEZF1 IFT172 BEST1 XRCC4 ABCC8 FSCN2 GABRD PWRN1 ADCY3 CRX SETD5 BBS2 CRB1 FGF17 IGF1R PRKACA HESX1 MTTP SLC25A4 CCDC141 UCP2 SOX10 RP9 HCFC1 CTSH PDE4D LMNA USP9X CFI CUL4B ANK3 HDAC8 GNAS PDE4D SUFU TSPAN7 TBX1 BRAF PRPF4 TUB TUB RHO KISS1R MAPK8IP3 KMT2A PRMT7 SETD2 INS MEN1 AIP VPS13B DNMT3A RAP1B SAG TRAPPC9 SIM1 MED12 SDCCAG8 CEP164 USH2A UFD1 PNKP PRPF6 LIPE RNF135 PHIP IL1RAPL1 CNGA1 IFT74 FHL1 MERTK PHF6 PROK2 PDSS1 ARHGEF18 SH2B1 IDH3B HELLPAR FGFR3 PRPF3 SLC7A14 PAX4 JMJD1C DNM2 CD46 DPYD MAN1B1 NR0B2 WT1 SNORD116-1 FMR1 IPW KCNJ18 NSD1 ATP6AP2 ACSL4 P2RY11 MC3R ALMS1 RAB23 PROK2 FGFR1 PCNT NTRK2 CTNNB1 STX16 DYRK1B HDAC8 SCAPER PRCD SEC24C PROKR2 SYNE1 SMC1A PCARE AKT2 TNFSF4 FGF8 HERC1 DHDDS ALB ADRB3 PIGN SYNE2 MYT1L LEPR BBS12 ZNF513 NIN THOC2 ADNP LEP ARMC5 IQSEC2 PPARG GUCA1B POMC BBIP1 THOC2 UPF3B PAK3 HACE1 SNORD115-1 AP4E1 THRA BBS1 MOG SYP FIBP COMT GNAS-AS1 KCNJ11 SUFU MKKS GNAS WNT4 SDCCAG8 ROM1 C8ORF37 PDE6B ZNF41 GHRL IFT172 GATA4 PDE6G ELN RAB23 AGTR2 TBX1 HS6ST1 RGR FGFR1 ACADVL EMD PTEN PROM1 PSMD12 SEMA4A ARL6 MEGF8 RAI1 ABCA4 MAGEL2 DMD ELN TULP1 DCC PAX6 UCP3 CUL4B REEP6 ZNF711 RREB1 SRY IGSF1 MTOR PDGFB DHX38 DEAF1 MTMR14 HDAC8 NPHP1 RP2 RLBP1 HNF1A RNPC3 PIGA C8ORF37 GP1BB AGRP GLI3 SETD2 RFC2 HNF4A DIS3L2 PHF6 MC4R FRMPD4 FIBP IGF1 PIGL USP8 EP300 HLA-DQB1 ARL3 IFT88 CEL ZNF81 OFD1 MKRN3-AS1 LAS1L BBS7 BBS2 USP7 RDH12 PRDM16 MKS1 HACE1 SMC3 IDH3A PIGT SHOX BBS9 IFT172 ARHGEF6 SKI CEP290 PRMT7 PDE4D CYP19A1 POMGNT1 MTOR KCNAB2 SIN3A H6PD KDM6A IFT27 LIMK1 TBL2 LZTFL1 BLK PNPLA6 USP8 ARL6 ARL2BP HLA-DRB1 IMPG2 XYLT1 BDNF ZBTB20 RBP3 POMC KIZ SH3KBP1 ARMC5 PRPF8 TOPORS BBS4 RERE AFF4 RPGR SLC9A7 SOX2 ALG13 HERC2 MRAP2 GNAS HUWE1 EIF2S3 TRAPPC9 BIN1 POU3F4 FAM161A ATP7B LEPR UBE2A TMCO1 RYR1 PTCH1 ARNT2 HIRA BBS9 GNAS DUSP6 TP53 MCM3AP RAI1 AFF4 MECP2 FOXP1 IQSEC2 BBS10 CEP19 SH2B1 SHANK3 RAD21 GDI1 BBS1 SMARCB1 SIM1 TRIM32 RAP1A WDR11 CLIP2 WT1 SPRY4 CACNA1S NIPBL NR2E3 MKKS KIF7 KIAA1549 GHR ANOS1 KLHL7 CNKSR2 CNGB1 HCRT GCK MC4R CEP290 EHMT1 AGBL5 TAF1 ZNF365 PROKR2 AP4S1 CA4 HNF1A BBS12 CLCN4 POMC MTFMT EYS NEK2 TMEM67 PCSK1 RPS6KA3 MAGEL2 CERKL GNAS EHMT1 ADNP RAI1 MKS1 AP4B1 SDC3 FLII TTC8 MKRN3 BRAF NSMF TMEM43 MOG KCNJ11 ENPP1 DLG3 CCDC28B BBS7 SLC10A7 SLC7A7 EXOC6B RBMX CDH23 IFT27 NDN SMAD4 IQSEC2 TRIM32 ZNF408 HESX1 TCF20 ATRX CANT1 GNAS EGF ALMS1 ARL6 GNAS MYF6 FLRT3 BBS2 CDHR1 PRPF31 BBIP1 PRKAR1A IGFALS SEMA3A PAX6 PCNT ARVCF GTF2I FTSJ1 LRAT P4HTM ABCC8 PRKAR1A FTO ARL13B KCNJ11 PRPH2 APC2 IFT172 CLRN1 KMT2D LZTFL1 NRL PDE6A APOE TBX1 HNF4A BBS4 INPP5E PCSK1 KIDINS220 PTCHD1 MLXIPL USP27X HDAC4 PIGT TBX3 MEGF8 TTC8 SNRPN TRAF3IP1 TRIP4 PWAR1 RPE65 ATRX PDX1 AP4M1 TBX3 TTC8 IL17RD POGZ ARX AHI1 MAN1B1 BLK CYP7A1 SPATA7 NPAP1 BBS5 EIF2S3 BAZ1B SNRNP200 AHR NEUROD1 WDPCP XYLT1 VPS13B BBS5 ZNF711 GNAS OTX2 ERMARD KIDINS220 SOX3 HNF4A IMPDH1 EDNRB IFT140 KLF11 RAB39B BPTF HSD11B1 SPG11 CFH FOXP1 RPS6KA3 NF2 MECP2 LEP WDR34 UBE3A CNNM2 C8ORF37 GTF2IRD1 CREBBP SH2B1
Protein Mutations 1
G551D