SNPMiner Trials by Shray Alag

rs12979860 (38) rs6971 (31) rs9939609 (11) rs6265 (11) rs738409 (11) rs7903146 (8) rs4680 (8) rs8099917 (8) rs11200638 (6) rs429358 (6) rs10490924 (6) rs7412 (6) rs16969968 (5) rs25531 (5) rs1801133 (5) rs1800497 (5) rs1799971 (4) rs4244285 (4) rs2832407 (4) rs1045642 (4) rs1544410 (4) rs10033464 (3) rs1761667 (3) rs6166 (3) rs1042713 (3) rs2023239 (3) rs1051730 (3) rs174537 (3) rs1006737 (3) rs2230199 (3) rs1128503 (3) rs2231142 (3) rs10455872 (3) rs6313 (3) rs1061170 (3) rs776746 (3) rs4588 (3) rs2069514 (2) rs1799963 (2) rs9332739 (2) rs2032582 (2) rs3745274 (2) rs6295 (2) rs12936231 (2) rs6280 (2) rs7103572 (2) rs35599367 (2) rs13266634 (2) rs1410996 (2) rs6025 (2) rs4129267 (2) rs70991108 (2) rs174547 (2) rs1127354 (2) rs362331 (2) rs53576 (2) rs35705950 (2) rs641153 (2) rs1695 (2) rs2234246 (2) rs10741657 (2) rs1800955 (2) rs2106261 (2) rs4149056 (2) rs2234237 (2) rs362307 (2) rs3808607 (2) rs1828591 (2) rs1800470 (2) rs1024611 (2) rs12785878 (2) rs3751143 (2) rs762551 (2) 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rs1786378374 (1) rs13376333 (1) rs17070145 (1) rs17561 (1) rs34489327 (1) rs7571842 (1) rs11133360 (1) rs2235321 (1) rs678849 (1) rs8069645 (1) rs35059413 (1) rs6454674 (1) rs2853884 (1) rs737865 (1) rs183489969 (1) rs7333181 (1) rs1143623 (1) rs71647871 (1) rs4149032 (1) rs17037122 (1) rs1062613 (1) rs2516513 (1) rs1048661 (1) rs11126727 (1) rs11568821 (1) rs1049524 (1) rs11568820 (1) rs1049522 (1) rs172378 (1) rs10994133 (1) rs924607 (1) rs2488457 (1) rs1143633 (1) rs11039155 (1) rs1143634 (1) rs2464266 (1) rs396991 (1) rs562696473 (1) rs11126731 (1) rs8105790 (1) rs10509681 (1) rs12041331 (1) rs1805010 (1) rs6013897 (1) rs16139 (1) rs2234693 (1) rs35652124 (1) rs4693608 (1) rs961360700 (1) rs2305948 (1) rs4343 (1) rs5743844 (1) rs4883263 (1) rs10033900 (1) rs4883264 (1) rs2243250 (1) rs2241193 (1) rs17614942 (1) rs2383206 (1) rs1800592 (1) rs613872 (1) rs4803217 (1) rs11031006 (1) rs1047768 (1) rs12208357 (1) rs4488809 (1) rs1800588 (1) rs2227902 (1) rs1549339 (1) rs3184504 (1) rs2248949 (1) rs222797 (1) rs1643649 (1) rs4803455 (1) rs2853564 (1) rs780094 (1) rs2231137 (1) rs6434222 (1) rs3825942 (1) rs112735431 (1) rs751402 (1) rs9701796 (1) rs1202167 (1) rs1202168 (1) rs1202169 (1) rs12472215 (1) rs4311 (1) rs2279238 (1) rs3766404 (1) rs7349683 (1) rs3781727 (1) rs1800450 (1) rs7157609 (1) rs529802001 (1) rs2257401 (1) rs3817198 (1) rs1217414 (1) rs1045485 (1) rs2278392 (1) rs2476601 (1) rs7993418 (1) rs13181 (1) rs4673 (1) rs2097432 (1) rs324011 (1) rs1079598 (1) rs1800566 (1) rs1800682 (1) rs603965 (1) rs993607 (1) rs1790349 (1) rs1044396 (1) rs3742376 (1) rs6592052 (1) rs9332377 (1) rs16111115 (1) rs11559024 (1) rs1149222 (1) rs11870474 (1) rs25331 (1) rs2929116 (1) rs2929115 (1) rs7961953 (1) rs2242480 (1) rs4532 (1) rs222747 (1) rs105173 (1) rs2165241 (1) rs1800795 (1) rs2075606 (1) rs11648486 (1) rs35874116rs (1) rs4795541 (1) rs2282679 (1) rs7853758 (1) rs1504982 (1) rs1176713 (1) rs11249433 (1) rs12467815 (1) rs10524523 (1) rs4880 (1) rs12760457 (1) rs2062305 (1) rs3828057 (1) rs3790515 (1) rs11687951 (1) rs1800896 (1) rs254093 (1) rs4994 (1) rs4633 (1) rs1885988 (1) rs11099592 (1) rs6843082 (1) rs17611 (1) rs2228171 (1) rs1042173 (1) rs41432149 (1) rs926198 (1) rs12992677 (1) rs2305619 (1) rs1800888 (1) rs61729512 (1) rs2266782 (1) rs1653624 (1) rs664393 (1) rs2246704 (1) rs11959427 (1) rs4848306 (1) rs3765467 (1) rs2246709 (1) rs2089760 (1) rs2180439 (1) rs2242447 (1) rs2981582 (1) rs12654788 (1) rs5275 (1) rs1053230 (1) rs1906591 (1) rs2010963 (1) rs11102930 (1) rs2601126 (1) rs2854116 (1) rs2854117 (1) rs16944 (1) rs17778257 (1) rs16942 (1) rs1801282 (1) rs5751876 (1) rs762251 (1) rs3803662 (1) rs10264272 (1) rs28399433 (1) rs230561 (1) rs12654778 (1) rs4364254 (1) rs10177833 (1) rs2238071 (1) rs1801275 (1) rs10766197 (1) rs704010 (1) rs10937405 (1) rs2228480 (1) rs9526240 (1) rs17570669 (1) rs10407022 (1) rs4612666 (1) rs6746030 (1) rs889312 (1) rs243866 (1) rs2740565 (1) rs1558902 (1) rs8192620 (1) rs10865801 (1) rs58542926 (1) rs3789604 (1) rs1801260 (1) rs2273773 (1) rs10757274 (1) rs573112 (1) rs2244613 (1) rs10757278 (1) rs6330 (1) rs1056892 (1) rs11931074 (1) rs2075252 (1) rs1297860 (1) rs28459296 (1) rs2380205 (1) rs780094s (1) rs9557195 (1) rs11045585 (1) rs1801253 (1) rs1801132 (1) rs11569562 (1) rs2104772 (1) rs15524 (1) rs2854275 (1) rs2066842 (1) rs12255372 (1) rs6323 (1) rs1057910 (1) rs1051375 (1) rs544684689 (1) rs2234237r25r (1) rs6318 (1) rs9826 (1) rs7120118 (1) rs12356193 (1) rs8111699 (1) rs7270101 (1) rs17042171 (1) rs1062033 (1) rs553668 (1) rs185670819 (1) rs1405655 (1) rs6311 (1) rs518147 (1) rs10401969 (1) rs4516035 (1) rs33996649 (1) rs10276036 (1) rs1465952 (1) rs2232618 (1) rs549927573 (1) rs41308230 (1) rs2293152 (1) rs2237060 (1) rs5215 (1) rs4820059 (1) rs12329760 (1) rs12676 (1) rs11083519 (1) rs16874954 (1) rs35597368 (1) rs1799983 (1) rs5573 (1) rs2229774 (1) rs2731886 (1) rs5574 (1) rs2302616 (1) rs12221497 (1) rs4973768 (1) rs5569 (1) rs2032892 (1) rs13281615 (1) rs4820268 (1) rs10079250 (1) rs1799750 (1) rs9366637 (1) rs4148738 (1) rs10456542 (1) rs25648 (1) rs9984723 (1) rs766996587 (1) rs2398162 (1) rs7291050 (1) rs1011970 (1) rs4253728 (1) rs12143842 (1)

SNPMiner SNPMiner Trials (Home Page)


Report for SNP rs1653624

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 A Randomised, Placebo-controlled, Double-blind Trial of the Antidepressant Efficacy of a Novel CNS-penetrant P2X7 Receptor Antagonist, JNJ-54175446, in People With Major Depressive Disorder, an Incomplete Response to Monoaminergic Antidepressant Drugs, and a Biomarker Profile Predictive of Active P2X7 Signalling

Depression is one of the most important causes of disability in the world today, with major personal, social and economic costs. Although some moderately effective drug treatments are already available, about a third of patients with major depressive disorder (MDD) remain depressed despite current treatment. There is growing evidence that inflammation - the response of the body's immune system to physical and social stresses - can cause depressive symptoms in some patients. It is therefore predicted that anti-inflammatory drugs could have anti-depressant effects and the research team aims to test this using a new drug, JNJ-54175446, which blocks the activity of a receptor called P2X7. P2X7 is present on many immune cells and plays a key role in the release of inflammatory molecules during stress, which may be linked to stress-related depression. The research team will recruit approximately up to 142 participants with MDD to this clinical trial. Patients will have moderate-severe depressive symptoms despite ongoing treatment with a conventional anti-depressant drug, and they will have blood test results at screening that indicate they are likely to have active P2X7 signalling in the brain. Eligible participants will be randomly allocated to receive either 50mg/day JNJ-54175446 or placebo for 8 weeks. Participants will be assessed at weeks 2, 5 and 8 using a standard clinical depression scale and the scores compared between those treated with placebo and those treated with JNJ-54175446. To understand more about the effects of JNJ-54175446 on the immune system and the brain, patients will also complete additional blood tests, questionnaires and magnetic resonance imaging (MRI) brain scans at different visits throughout the trial. The trial will be carried out across 5 centres in the UK.

NCT04116606
Conditions
  1. Depressive Disorder, Major
  2. Inflammation
Interventions
  1. Drug: Active JNJ-54175446
  2. Drug: Placebo
MeSH:Inflammation Depressive Disorder Depression Depressive Disorder, Major
HPO:Depressivity

3. Presence of two copies of the loss-of-function C allele at rs3751143, and/or has one copy of the loss-of-function A allele at rs1653624 in the P2RX7 gene.

Primary Outcomes

Description: The Montgomery Asberg Depression Rating Scale (MADRS), a researcher-rated scale designed to measure depression severity and detects changes due to antidepressant treatment. The test consists of 10 items, each of which is scored from 0 (item not present or normal) to 6 (severe or continuous presence of the symptoms), for a total possible score of 60. Higher scores represent a more severe condition. (Visit 4)

Measure: Change from baseline in total score on the MADRS scale at week 8

Time: At baseline and at 8 weeks of treatment

Secondary Outcomes

Description: The Montgomery Asberg Depression Rating Scale (MADRS), a researcher-rated scale designed to measure depression severity and detects changes due to antidepressant treatment. The test consists of 10 items, each of which is scored from 0 (item not present or normal) to 6 (severe or continuous presence of the symptoms), for a total possible score of 60. Higher scores represent a more severe condition.

Measure: Change from baseline in total score on the MADRS scale

Time: At baseline, 2 and 5 weeks of treatment

Description: Perceived Stress Scale is a questionnaire measure of recent or current social stress. This scale ranges from 0 to 40; scores ranging from 0-13 would be considered low stress; scores ranging from 14-26 would be considered moderate stress; scores ranging from 27-40 would be considered high perceived stress.

Measure: Change in scores on Perceived Stress Scale

Time: At baseline, 2, 5 and 8 weeks of treatment

Description: Snaith-Hamilton Pleasure Scale. SHAPS is an instrument developed for the assessment of hedonic capacity and consists of 14-items. Four major domains are covered in the scale, namely interest/pastimes, social interaction, sensory experience, and food/drink. The score range is 0-14. The higher the score the lower the ability to experience pleasure of the patient.

Measure: Change in scores on SHAPS

Time: At baseline, 2, 5 and 8 weeks of treatment

Description: Chalder Fatigue Questionnaire (CFQ). The Fatigue Scale, sometimes referred to as the Chalder Fatigue Questionnaire, is a self-administered questionnaire for measuring the extent and severity of fatigue within both clinical and non-clinical, epidemiological populations. The respondent's global score can range from 0 to 33. The global score also spans two dimensions-physical fatigue (measured by items 1-7) and psychological fatigue (measured by items 8-11).

Measure: Change in scores on CFQ

Time: At baseline, 2, 5 and 8 weeks of treatment

Description: Quick Inventory of Depressive Symptomatology (QIDS-SR16). The QIDS-SR16 is designed to assess the severity of depressive symptoms and is sensitive to change due to with medications, psychotherapy, or other treatments. Participants will provide responses to each item of this instrument with a 4-point Likert scale, with scores ranging from 0-3 for each item. The total score ranges from 0 to 27. Using a scale of severity of depression of none, mild, moderate, severe, and very severe, corresponding QIDS-SR16 total scores are none 1 to 5, mild 6 to 10, moderate 11 to 15, severe 16 to 20 and very severe 21 to 27.

Measure: Change in scores on QIDS-SR16

Time: At baseline, 2, 5 and 8 weeks of treatment

Description: Generalized Anxiety Disorder 7 (GAD-7). GAD-7 is a self-reported questionnaire for screening and severity measuring of GAD. GAD-7 has seven items, which measure severity of various signs of GAD according to reported response categories with assigned points. Assessment is indicated by the total score, which made up by adding together the scores for all 7 items. The score ranges from 0 to 21. Using a scale of severity of anxiety of none, mild, moderate and severe, corresponding to GAD-7 total scores are none 0 to 4, mild 5 to 9, moderate 10 to 14 and severe 15 to 21.

Measure: Change in scores on GAD-7

Time: At baseline, 2, 5 and 8 weeks of treatment

Description: Participants will be asked to self-assess their depression using the Beck Depression Inventory scale (BDI). BDI is a 21-question multiple-choice self-report inventory, widely used for assessment of depression, including in the NIMA BIODEP study, with a score range of 0-63. Each of the 21 items is rated by the participant on a 4 point scale.

Measure: Change in score on participant self-reported depression scale

Time: At baseline and at 8 weeks of treatment

Description: Revere-D is an application developed by Johnson and Johnson, and consists of a battery of eight validated cognitive tasks that assesses cognitive functions, such as memory and learning, that do not involve cognitive processing of emotionally salient stimuli.

Measure: Change in scores in the cognitive function test ReVeRe-D

Time: At baseline, 2, 5 and 8 weeks of treatment

Description: The continuous performance test is a computerised test of sustained attention which provides a measure of cognitive fatigue.

Measure: Change in scores in Continuous performance test

Time: At baseline, 2, 5 and 8 weeks of treatment

Description: The emotional test battery will consist of 3 validated computerised tasks which are used to assess cognitive functions that involve processing emotionally salient stimuli, such as human faces expressing emotional states.

Measure: Change in scores in Emotional Test battery

Time: At baseline and 2 weeks of treatment

Description: Brain structure and function will be assessed using fMRI/MRI

Measure: Change in Brain structure and function

Time: Baseline and at 8 weeks fo treatment

Description: Heart rate variability will be measured for 15 minutes during rest and whilst completing one of the cognitive tasks.

Measure: Change in heart rate variability

Time: Baseline and at 8 weeks fo treatment

Other Outcomes

Description: Participants will be asked to provide saliva samples before treatment commencement and during the last week of treatment in order for the cortisol levels to be analysed.

Measure: Change in Salivary cortisol levels as a measure of biological stress

Time: Samples collected within 7 days prior to Baseline visit and within 7 days prior to visit 4

Description: Blood samples will be collected for the analysis of cytokine and chemokine levels with a multiplex immunoassay using the MSD Multi-spot assay system with the Cytokine Panel 1, Proinflammatory panel 1 and Chemokine panel 1 kits providing concentration of all analytes of the panel in pg/ml.

Measure: Measurement of peripheral blood peripheral cytokine and chemokine levels

Time: Baseline and at 8 weeks fo treatment

Description: The immune cellular content of the blood samples will be analysed with mass cytometry using the commercial kit Maxpar® Direct™ Immune Profiling Assay.

Measure: Measurement of peripheral blood immunophenotypes

Time: Baseline and at 8 weeks fo treatment


HPO Nodes


HP:0000716: Depressivity
Genes 460
LMAN2L ZIC2 WFS1 TRNL1 PROKR2 COL7A1 NODAL DNAJC13 LINS1 LIMK1 PDE11A POLG FGFR1 COL7A1 WDR11 SIX3 CRADD GP1BB SNCA HTT MAPT SEC24C C19ORF12 ATXN2 CRBN WFS1 C9ORF72 PRKN DISP1 TARDBP GAS1 PER2 ADH1C LRRK2 FOXH1 CDH23 MECP2 ELN DNAJC6 GDAP2 OCRL GPR35 CHCHD10 JMJD1C MAN1B1 UFD1 ARMC5 POLG VCP COX2 DLL1 SIX3 GTF2I MLH3 FGF8 PDGFB C12ORF4 ATXN8 FAN1 PINK1 FLT4 MSH2 FOXH1 TCF4 HTR2A MSTO1 SLC2A1 TWNK CDON CSF1R VCP GAS1 SLC6A4 FIG4 MAN2B1 ARSA TRNH PROK2 PRPH MBOAT7 TET2 PRNP CACNA1H GLA NODAL COASY CLN6 SHH DISP1 DNAJC5 PDGFRB PON1 AIP GLI2 SLC20A2 FMR1 DISP1 HLA-DQB1 TWNK KDM5B IDUA SRPX2 FGF8 MSTO1 KISS1R TDGF1 AMACR TGFBR2 BCR ARSG TRNS2 GLI2 FGF8 TRNS1 PRKACA OPTN NOTCH3 HTT ATXN8OS XPR1 NR4A2 FGFR1 PSAP CACNA1G HARS1 DGUOK C9ORF72 ATXN10 ND4 ND5 TSC1 ATP1A3 GNAS CDON STAG2 TAF15 GNAS PRKAR1A SIX3 COX1 NSUN2 B3GALNT2 MST1 PIK3CA EZR USH1G NEFH ZIC2 BCS1L DCPS PAH TBK1 TWNK AARS2 KRAS ST3GAL3 FGF8 ABCA7 SHH ADGRV1 HMBS MYO7A RRM2B STAG2 DCTN1 KCTD17 HTT NODAL UNC13A PTCH1 ATXN2 ZIC2 USH1C CC2D1A SLC2A3 GAS1 PGAP1 TRAPPC9 FMO3 CEP85L KCNJ2 PPT1 TRNF TECR C9ORF72 CCNF PLA2G6 WHRN CDON NHLRC1 XK UCHL1 CLRN1 ANXA11 DAO SOD1 CDKN1A POLG FGF14 PTCH1 FRRS1L GLI2 CASR ATP1A3 EPHA4 USH2A MYO7A SNCAIP COQ2 GABRB3 TAC3 GABRA1 PARK7 DCTN1 SLC25A4 CRKL HS6ST1 THOC2 HLA-DQB1 SMC1A PRNP MLH1 CIB2 GNAS GRIK2 PRNP TOR1A GIGYF2 AIMP1 GRN NEK1 C9ORF72 ANOS1 CYP27A1 CBS PDGFRB CDKN1B MEN1 PINK1 PPP2R2B TBC1D7 AP2S1 HMBS HNRNPA1 USP8 TBK1 FA2H PRNP GLUD2 TRNS2 RREB1 MED25 BMPR1A CEP78 ARVCF NDST1 PTS PANK2 GCH1 PMS1 PON3 PIGC CLIP2 TBX1 DNMT1 TACR3 FUS EHMT1 POLG SYNJ1 RPS6KA3 MAPT MAN2B1 FBXO31 BAZ1B SNCA RSRC1 PRSS12 GBA FGF17 PDGFRB PDCD1 FUS TTC19 TRNQ RRM2B RFC2 DCTN1 SIX3 TUSC3 TDGF1 PRKCG TBP CDKN2C PODXL ATRX KISS1 PFN1 VCP GNRHR CISD2 PDGFB CDON ASXL1 CLCN4 MED23 EPM2A GNAS JPH3 JRK SGCE HNMT TK2 TRNL2 ZIC2 CDH23 GNAS LRRK2 GLE1 EPCAM VCP TMEM106B COX3 SMPD1 GABRG2 FOXH1 PRNP VPS13C SNCA ND1 VPS35 PON2 PPARGC1A EIF4G1 FGF8 WASHC4 POLG2 PRNP DNA2 FMN2 TGIF1 DNMT1 SLC18A2 SPRY4 TOR1A CHMP2B ARMC5 PTCH1 TDGF1 TSC2 SHH CARS1 THOC2 TWNK GLI2 CLCN4 RPS20 GBA HLA-DRB1 SRSF2 ATXN10 GAS1 RUNX1 GNA11 ESPN COMT AFG3L2 PANK2 TBX1 TGIF1 CHCHD10 KCTD17 TARDBP GTF2IRD1 NSMF IQSEC1 PAH GABRG2 PTCH1 CBL MATR3 SLC45A1 GNRH1 FOXH1 TRNS1 CFAP410 PLA2G6 SQSTM1 TGIF1 SPAST SEMA4A C9ORF72 VPS13A SQSTM1 CLIP1 CTSF POLG MAPT TDGF1 FGF14 TRNN TNIK TRNW DLL1 CHMP2B METTL23 TRNL1 TET3 SHH TGIF1 TBP PER3 MSH6 ND6 GRIN2A FGFR1 GLT8D1 PDZD7 ATXN8OS VAPB STX16 POLG MMP1 CACNA1G FMR1 ATP7B SARS1 EDC3 LMNB1 CPOX ERBB4 UBQLN2 MAPK1 DRD2 TREM2 TREM2 NODAL SGCE TBL2 DLL1 COQ2 CDKN2B ATP13A2 HIRA ZC3H14 CHD7 PSEN1 GSN ANG DMPK PCDH15 GPR101 PMS2 DLL1 DUSP6 KCNT1 HTRA2 GBA DISP1 PTPN22
Protein Mutations 4
A1298C C677T V158M V66M