SNPMiner Trials by Shray Alag


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Report for SNP rs2307227

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Carboxylesterase 1 Genetic Variation and Methylphenidate in ADHD

The study team will determine the association between d,l-methylphenidate (MPH) therapeutic outcomes in ADHD patients and genetic variants of CES1 and reveal key associations between CES1 genotypes and the PK and PD of MPH.

NCT03781752 ADHD Attention Deficit Hyperactivity Disorder Drug: Methylphenidate
MeSH: Attention Deficit Disorder with Hyperactivity
HPO: Attention deficit hyperactivity disorder

In addition, the study team's in vitro studies have revealed that another common CES1 variant D203E (rs2307227) exhibited significantly impaired activity on MPH metabolism, although the effects on D203E on clinical response are in need of further elucidation.

Primary Outcomes

Description: The maximum plasma concentration achieved after dosing.

Measure: Maximum methylphenidate plasma concentration (Cmax),

Time: up to 8 Hours

Secondary Outcomes

Description: The time after administration of a drug when the maximum plasma concentration is reached; when the rate of absorption equals the rate of elimination.

Measure: Time to maximum concentration (Tmax)

Time: up 8 hours

Description: Area under the plasma concentration-time curve from time zero to the last measurable concentration.

Measure: Area under the plasma concentration curve (AUClast)

Time: up to 8 hours

Description: Area under the plasma concentration-time curve from time zero to infinity.

Measure: Area under the plasma concentration curve (AUCinf)

Time: up to 8 hours


HPO Nodes


Attention deficit hyperactivity disorder
Genes 271
TIMM8A ALG13 SNORD116-1 IL1RAPL1 DHDDS CSNK2A1 BAZ1B ALKBH8 GRIN2A UPF3B SCN8A ZNF41 BCORL1 KCNA2 FGFR3 MED12 RAI1 PARS2 GLUD1 ND4 CLTC IQSEC2 RFC2 TKT OPHN1 PRKCG HDC CPLX1 GABRA1 MKRN3 GABRA2 DLG3 PCNT YWHAG FAN1 HOXA2 TRNQ TBX1 DPP6 GTF2IRD1 UBA5 NECAP1 MECP2 USP9X TLK2 IGF1 ARX TRIO SMC3 PHIP SCN3A SATB2 AUTS2 AGTR2 TBC1D24 PWRN1 IFNG GABRG2 SCN8A SPG7 SOX5 ARF1 SETD5 PPM1D TBX1 GRIA4 CYFIP2 GRIN2D HIRA MAP11 STAG2 DNM1 MLXIPL DEAF1 MCTP2 CLIP2 PANK2 GNB5 JRK TRNF KIF11 PAH POLA1 TMCO1 UBE3A UPF3B ELN SH2B1 PAK3 GABRG2 SMPD1 DYM NDP IQSEC2 RSRC1 TSC1 YWHAG SLC1A2 TBL2 PTCHD1 SH3KBP1 BMPR1A LIG4 SNORD115-1 RAI1 STXBP1 HDAC8 ELN ARVCF SEC24C MLH3 DYNC1I2 ARID2 ND6 CLCN4 SLC9A7 SH2B1 FLI1 MED12 JMJD1C GNE ARHGEF6 ND5 USP27X MED12 FMR1 COMT UFD1 ZNF81 PMS1 HERC2 PRNP NBN SNRPN PTCHD1 TSC2 GTF2I SLC13A5 MID2 SPRED1 SRPX2 DHTKD1 AARS1 SIM1 MLH1 TRNH PMS2 C12ORF4 PIEZO2 IPW GDI1 AP3B2 NPAP1 GNAQ TRNL1 SYP TAF1 GATA4 MSH6 ABCD1 HDAC4 ARV1 STS CRKL KMT2A CACNA1H GRIN2A GP1BB VPS13A CACNA1B DMD ZDHHC9 KRAS NSUN2 TRNS2 MSH2 ASPM SLC2A1 KIF14 PIK3CA FTSJ1 STS CHRNA7 TRNS1 SIN3A DNAJC12 LIMK1 RAI1 TRAK1 RPS20 SLITRK1 SYNGAP1 HCN1 CACNA1A DHCR7 NIPBL LHCGR ADNP SMC1A TRIO WAC PAH WWOX MED12 HSPG2 NDN COX1 GABRB2 MAGEL2 KCNA2 MKRN3-AS1 RERE PCGF2 RAD21 ND1 TBX1 ZNF711 MAPK1 PWAR1 GABRA5 PPP3CA SETBP1 OCRL TRNW COX3 RREB1 EPCAM GABRG2 SIN3A CNKSR2 SLC6A8 DRD5 NUS1 SZT2 FGF12 TGFBR2 SEMA4A COX2 FLII FGD1 EEF1A2 NOP56 FRMPD4 ACTL6B SEMA3E CNKSR2 NTRK2 BCR CXORF56 CHD7 CRBN SETD5 TSPAN7 DRD4 KCNB1 ATP6V1A RAB39B RPS6KA3 CLTC GABRB3 ACSL4 TBX1 CIC TUBB2B GNE THRB IKBKG FGD1 SYNJ1 CNKSR2 HCFC1