TIPPS MindMaps Project Psychiatry : IMPORTANT GENES IN

PSYCHIATRY

Dr Uppal , MD ,DPM ,MRCPsych

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ILLUSTRATIONS BY DR G UPPAL MD,MRCPSYCH

ILLUSTRATIONS BY DR G UPPAL MD MRCPSYCH

ILLUSTRATIONS BY DR G UPPAL MD MRCPSYCH

KEY GENES

Gene

Primary Associated Disorders

Biological Role/Notes nih+3

CACNA1C

Schizophrenia, bipolar, depression, autism, ADHD

Calcium channel gene; regulates neuronal calcium flow, linked to emotion and memory circuits. nih+1

CACNB2

Schizophrenia, bipolar, depression, autism, ADHD

Calcium channel subunit; shared risk across five disorders. nih

DISC1

Schizophrenia, bipolar disorder

Disrupted in schizophrenia 1; neuronal development and migration. dnalc.cshl+1

NRG1

Schizophrenia, bipolar disorder

Neuregulin 1; synaptic plasticity and myelination. dnalc.cshl+1

MIR137

Schizophrenia

MicroRNA regulating neurogenesis and synaptic genes. pmc.ncbi.nlm.nih

DRD2

Multiple (schizophrenia, addiction, bipolar)

Dopamine D2 receptor; pleiotropic hotspot in NCAM1-DRD2 cluster. nature

RBFOX1

Multiple (7-8 disorders including anxiety, OCD)

Splicing regulator; involved in broad psychiatric risk. frontlinegenomics

GRIN2A

Schizophrenia

NMDA receptor subunit; high GWAS score. frontiersin

BDNF

Bipolar, depression

Brain-derived neurotrophic factor; neuroplasticity. dnalc.cshl

SHANK3

Autism, schizophrenia

Synaptic scaffolding; rare mutations in ASD. pmc.ncbi.nlm.nih

GUIDANCE :TIPPS ADMINS , PREPARED BY DR G UPPAL , MD, MRCPSYCH

GENETIC TESTS AVAILABLE IN INDIA ( SPECIFIC LOCATIONS )

Test Name/Type

Genes Tested (Key Examples)

Purpose in Psychiatry

Labs/Providers in India

Pharmacogenomics Panel (Psychiatry)

CYP2D6, CYP2C19, CYP1A2, CYP3A4/5, SLCO1B1Av,ailAableBTeCstBs Ta1bl,e HTR2A

Optimize antidepressants (SSRIs, TCAs), antipsychotics, mood stabilizers; predict side effects/adherence

Agilus Diagnostics (nationwide), MGMCRI (Pondicherry), MapmyGenome (online via Amazon/Flipkart), GeneTech (Hyderabad), MedGenome (Bangalore)

CYP2D6 Metabolism Test

CYP2D6 (*3,*4,*5,*6 etc.)

Response to risperidone, haloperidol, TCAs

RGCB (Trivandrum), DNA Labs India (multiple cities), Genetrack India

CYP2C19 Metabolism Test

CYP2C19 (*2,*3,*17)

SSRI (escitalopram, sertraline) efficacy/dosing

RGCB, Agilus Diagnostics, MapmyGenome

5-HTTLPR (Serotonin Transporter)

SLC6A4 (5-HTTLPR variant)

Risk for anxiety, depression; SSRI response

Genetrack India, GenePowerX

HLA-B*1502 Screening

HLA-B*1502

Prevent carbamazepine SJS/TEN in mood disorders

MedGenome, Manipal Hospitals, NIMHANS (Bangalore)

VKORC1 & CYP2C9

VKORC1, CYP2C9

Warfarin dosing (relevant for comorbid conditions)

GeneTech, DNA Labs India

GUIDANCE :TIPPS ADMINS , PREPARED BY DR G UPPAL , MD, MRCPSYCH