Precision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its “Epidemic Rates”
Abstract
:1. Introduction
2. Materials and Methods
- CATEGORY 1
- CATEGORY 2
- CATEGORY 3
- SYNDROMIC (former category 4)
Methods to Obtain Pairwise Comparisons of Genes’ Expression in Autism and Various Disorders
3. Results
3.1. Neuropsychiatric Disorders and Autism Share Common Genes Expressed in Brain Tissues for Motor, Emotional and Self-Regulatory Control
3.3. Examination of the Maximal Gene Expression on the Tissues for Genes Common to Autism and These Disorders Revealed a Compact Gene Pool
3.4. Genomic Stratification of Neurological and Neuropsychiatric Diseases Making Up Autism Today
4. Discussion
4.1. The Genetically Informed Autism Subtypes
4.2. The Genes Common to Autism and Each Subtype
4.3. The Genes Common to Autism and All Subtypes
4.4. Implications of This Genomic Categorization for Treatment Selection in Autism
4.5. The Importance of Reframing Autism under the Precision Medicine Paradigm
Supplementary Materials
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Neuropsychiatric Condition | Number of Genes in DISGENET | Number of Genes Shared with SFARI ASD-Linked Genes | % (Relative to DisGeNET, Relative to 906 SFARI Genes) |
---|---|---|---|
Schizophrenia | 2697 | 336 | (24.58, 37.08) |
ADHD | 795 | 188 | (23.64, 20.75) |
Depression | 1407 | 158 | (11.22, 17.43) |
PTSD | 395 | 55 | (13.92, 6.07) |
Bipolar Depression | 116 | 33 | (28.34, 3.6) |
Neurological Disorder | Number of Genes Reported in DISGENET | Number of Genes Shared with SFARI ASD-Linked Genes | % (Relative to DisGeNET, Relative to 906 SFARI Genes) |
---|---|---|---|
Parkinson’s | 1975 | 164 | (8.3, 18.10) |
Ataxia Autosomal Dominant | 812 | 98 | (12.06, 10.81) |
FX | 72 | 72 | (100.0, 7.94) |
Dystonia | 419 | 65 | (15.51, 7.17) |
Ataxia Autosomal Recessive | 420 | 61 | (14.52, 6.73) |
OCD | 167 | 39 | (23.35, 4.30) |
Tourette’s | 171 | 35 | (20.46, 3.86) |
CP | 227 | 34 | (14.97, 3.75) |
X-Ataxia | 158 | 22 | (13.92, 2.42) |
FXTAS | 63 | 22 | (34.9, 2.42) |
Progressive Cerebellar Ataxia | 134 | 13 | (9.70, 1.43) |
Genes Common to ASD and Neuro-Disorders | Tissue with Max Expression |
---|---|
ACTB | Liver |
AFF2 | Adipose Subcutaneous, Adipose Visceral Omentum, AdrenalGland, Artery Aorta, Artery Coronary, Artery Tibial, Bladder, Breast Mammary Tissue, Cervix Ectocervix, Cervix Endocervix, Colon Sigmoid, Colon Transverse, Esophagus Gastro esophageal Junction, Esophagus Muscularis, Fallopian Tube, Heart AtrialAppendage, Kidney Cortex, Kidney Medulla, Lung, Minor Salivary Gland, Nerve Tibial, Pituitary, Prostate, Small Int ileum, Spleen, Stomach, Thyroid, Uterus, Vagina |
AKAP9 | Whole Blood |
ALDH5A1 | Esophagus Mucosa |
ATP2B2 | Heart Left, Ventricle, Ovary, Cerebellar Hemi, Cerebellum |
AVPR1A | Skeletal Muscle |
CACNA1E | Ant Cingulate Cortex |
CHD7 | Pancreas, Skin not Sun Exposed Suprapubic, Skin Sun Exposed Lower Leg |
CREBBP | Cortex, Frontal Cortex, Fibroblasts, Cell-Lymphocytes |
FOXP1 | Nucleus Accumbens of the Basal Ganglia (BG) |
MECP2 | Amygdala, Caudate-BG, Hippocampus, Hypothalamus, Putamen-BG, Spinal Cord-Cervical, Substantia Nigra |
SMAD4 | Testis |
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Torres, E.B. Precision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its “Epidemic Rates”. J. Pers. Med. 2021, 11, 1119. https://doi.org/10.3390/jpm11111119
Torres EB. Precision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its “Epidemic Rates”. Journal of Personalized Medicine. 2021; 11(11):1119. https://doi.org/10.3390/jpm11111119
Chicago/Turabian StyleTorres, Elizabeth B. 2021. "Precision Autism: Genomic Stratification of Disorders Making Up the Broad Spectrum May Demystify Its “Epidemic Rates”" Journal of Personalized Medicine 11, no. 11: 1119. https://doi.org/10.3390/jpm11111119