Genes To Mental Health (G2MH): A Framework to Map the Combined Effects of Rare and Common Variants on Dimensions of Cognition and Psychopathology
Abstract
Chromosome Coordinates (Genes) | Start and Stop (Mb) (from hg19) | Effect Size for IQb | Frequency of Intellectual Disability (%) | Odds Ratio for Autism Spectrum Disorderc | Odds Ratio for Schizophreniac |
---|---|---|---|---|---|
1q21.1 deletion (CHD1L) | 146.53–147.39 | –15.15d | 16.1 | 3.2e | 6.4f |
1q21.1 duplication (CHD1L) | 146.53–147.39 | –25.35d | 37.8 | 5.3e | 2.9g |
NRXN1 deletion | 50.14–51.26 | –9.0 | 8.1 | 7.9e | 4.7h |
3q29 deletion (DLG1) | 195.73–197.34 | –31.5 | 54.0 | 19.0e | 23.0h |
7q11.23 duplication (ELN) | 72.7–74.1 | –13.95 | 14.2 | 32.0e | 16.1h |
15q11.2 deletion (CYFIP1) | 22.81–23.09 | –5.7 | 5.3 | 1.3i | 1.9i |
15q13.3, BP4-BP5 deletion (CHRNA7) | 30.92–32.51 | –21.9 | 29.5 | 15.0e | 18.0h |
16p13.11 deletion (MYH11) | 15.51–16.29 | –7.35 | 6.5 | 2.5e | 2.2f |
16p13.11 duplication (MYH11) | 15.51–16.29 | –8.7 | 7.8 | — | 1.5g |
16p11.2 distal deletion (SH2B1) | 28.82–29.05 | –9.15 | 8.2 | 3.6e | 4.4h |
16p11.2 distal duplication (SH2B1) | 28.82–29.05 | –3.0 | 3.6 | — | 1.3f |
16p11.2 deletion (MAPK3) | 29.65–30.2 | –26.0j | 39.4 | 14.3e | 1.1f |
16p11.2 duplication (MAPK3) | 29.65–30.2 | –11.0j | 10.2 | 10.5e | 11.7h |
17p11.2 duplication (RAI1) | 17–21.4 | –49.2 | 90.0 | 32.0e | 11.3f |
17q12 deletion (HNF1B) | 34.81–36.22 | –11.55 | 11.0 | 3.5k | 6.6g |
17q12 duplication (HNF1B) | 34.81–36.22 | –6.6 | 6.0 | — | 1.9f |
22q11.2 deletion (TBX1) | 19.04–21.47 | –28.5 | 46.0 | 32.3e | 23.0l |
22q11.2 duplication (TBX1) | 19.04–21.47 | –13.65 | 13.8 | 2.0e | 0.2h |
DO RARE VARIANTS EXERT SPECIFIC OR SHARED EFFECTS ON PSYCHOPATHOLOGY?
PHENOTYPIC VARIABILITY
KNOWLEDGE GAPS
An Elusive Phenome: Closing the Gap Between the Tidal Wave of Gene Discovery and Phenotypes
Biases and Challenges in the Field
Ascertainment methods.
Cultural biases.
Subjective methods of assessments—diagnostic criteria.
PRECISION PSYCHIATRY: TRANSLATING KNOWLEDGE INTO THE CLINICAL SETTING
Predictive Testing
Preventive Care and Interventions
Lack of Routine Genetic Testing in Psychiatric Clinics
G2MH ROADMAP
New Data Collection
Leveraging Archival Data
Phenotypic Harmonization Strategy
New Satellite Projects
Data Sharing
CONCLUSIONS
Footnotes
Supplementary Material
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