4 RNA sequencing

Author: Lucas Toshio Ito
lucas.toshio.ito@gmail.com
Universidade Federal de São Paulo (UNIFESP)

Last updated: March 16, 2026

Counts represent raw availability before modality-specific quality control. Cumulative cases are participants who met the phenotype definition at any observed timepoint; missing assessments are skipped.

Psychiatric Disorders (DAWBA):

Attention-Deficit/Hyperactivity Disorder (ADHD): dcanyhk
Anxiety Disorder: dcpanic; dcagor; dcgena; dcsoph; dcspph
Bipolar Disorder / Mania: dcmania
Eating Disorder: dceat
Major Depressive Disorder (MDD): dcmadep
Obsessive–Compulsive Disorder (OCD): dcocd
Psychosis: dcpsych
Post-Traumatic Stress Disorder (PTSD): dcptsd
Any Psychiatric Disorder: dcany

Suicidality variables (C-SSRS):

Suicidal Ideation (SI): p_colbi1_lt, p_colbi2_lt
Suicide Attempt (SA): p_colbsb1a_lt, p_colbsb2a_lt, p_colbsb3a_lt

4.1 Demographic Characteristics

Demographic Characteristics of the Study Sample
Variable	Wave0 N = 586¹	Wave1 N = 440¹	Overall N = 746²
Sex at birth
Male	335 (57.2%)	257 (58.4%)	426 (57.1%)
Female	251 (42.8%)	183 (41.6%)	320 (42.9%)
Age
Mean (SD)	10.7 (1.9)	14.4 (1.9)	22.8 (2.8)
Median (Q1-Q3)	10.6 (9.2-12.0)	14.2 (13.0-15.7)	23.1 (21.4-24.8)
State
RS	256 (43.7%)	219 (49.8%)	344 (46.1%)
SP	330 (56.3%)	221 (50.2%)	402 (53.9%)
Selection
Random	275 (46.9%)	206 (46.8%)	340 (45.6%)
High Risk	311 (53.1%)	234 (53.2%)	406 (54.4%)
Skin color
White	313 (53.4%)	239 (54.3%)	410 (55.0%)
Black	78 (13.3%)	65 (14.8%)	101 (13.5%)
Between white and black (brown)	191 (32.6%)	133 (30.2%)	230 (30.8%)
Indigenous	2 (0.3%)	1 (0.2%)	2 (0.3%)
Asian	2 (0.3%)	2 (0.5%)	3 (0.4%)
¹ n (%)
² Overall N includes participants with RNA-seq data at any timepoint and reflects data from their most recent assessment.

4.2 Wave-Specific Psychiatric Phenotypes

Wave-Specific Psychiatric Phenotypes Prevalence Among Probands with RNA-seq Data (BHRC)
Psychiatric Phenotype	Wave 0 (N=586)	Wave 1 (N=440)	Lifetime (N=746)¹
ADHD	70 (11.9%)	41 (9.3%)	168 (22.5%)
Anxiety Disorders	39 (6.7%)	54 (12.3%)	240 (32.2%)
Bipolar Disorder or Mania	1 (0.2%)	0 (0.0%)	10 (1.3%)
Eating Disorders	4 (0.7%)	7 (1.6%)	31 (4.2%)
Major Depressive Disorder	23 (3.9%)	42 (9.5%)	199 (26.7%)
OCD	2 (0.3%)	9 (2.0%)	26 (3.5%)
Psychosis	0 (0.0%)	1 (0.2%)	4 (0.5%)
PTSD	8 (1.4%)	6 (1.4%)	56 (7.5%)
Any Psychiatric Disorder	175 (29.9%)	159 (36.1%)	477 (63.9%)
Suicidal Ideation²	0 (0.0%)	0 (0.0%)	241 (32.3%)
Suicide Attempt²	0 (0.0%)	0 (0.0%)	137 (18.4%)
¹ Lifetime N represents the phenotype at any assessment among participants with RNA-seq data.
² Suicidality phenotypes were only evaluated in the last follow-up (Wave 3).
Diagnoses were assessed using the Development and Well-Being Assessment (DAWBA) following DSM-IV criteria. The table summarizes psychiatric disorders identified among probands at each assessment wave.

4.3 Cumulative Psychiatric Phenotypes

Cumulative Psychiatric Phenotypes Prevalence Across Waves Among Probands with RNA-seq Data (BHRC)
Psychiatric Phenotype	Wave 0 (N=586)	Wave 1 (N=440)	Lifetime (N=746)¹
ADHD	70 (11.9%)	91 (20.7%)	168 (22.5%)
Anxiety Disorders	39 (6.7%)	86 (19.5%)	240 (32.2%)
Bipolar Disorder or Mania	1 (0.2%)	2 (0.5%)	10 (1.3%)
Eating Disorders	4 (0.7%)	11 (2.5%)	31 (4.2%)
Major Depressive Disorder	23 (3.9%)	51 (11.6%)	199 (26.7%)
OCD	2 (0.3%)	10 (2.3%)	26 (3.5%)
Psychosis	0 (0.0%)	1 (0.2%)	4 (0.5%)
PTSD	8 (1.4%)	12 (2.7%)	56 (7.5%)
Any Psychiatric Disorder	175 (29.9%)	229 (52.0%)	477 (63.9%)
Suicidal Ideation²	0 (0.0%)	0 (0.0%)	241 (32.3%)
Suicide Attempt²	0 (0.0%)	0 (0.0%)	137 (18.4%)
¹ Lifetime N represents the phenotype at any assessment among participants with RNA-seq data.
² Suicidality phenotypes were only evaluated in the last follow-up (Wave 3).
Diagnoses were assessed using the Development and Well-Being Assessment (DAWBA) following DSM-IV criteria. The table summarizes lifetime psychiatric disorders identified in probands up to each wave. Phenotypes are counted from the wave of first identification onward.

4.4 Diagnosis Timing Relative to RNA-seq Acquisition

A diagnosis is counted by acquisition when identified in the same or an earlier wave. Age-18+ diagnoses use p1dawbaage or sdawbaage.

Exclusions

Pre-18-only cases and diagnoses first observed after acquisition are excluded from controls. Participants without an age-18+ evaluation fall outside the adult denominator.

Psychiatric Diagnosis Timing Among Probands with RNA-seq Data (BHRC)
Cell format: cases / controls / excluded lifetime cases
Psychiatric Phenotype	Lifetime (N=746)	Diagnosed at 18+ (N=699)	By RNA-seq wave (N=746)	At 18+ by RNA-seq wave (N=5)
ADHD	168 / 578 / 0	45 / 540 / 114	121 / 578 / 47	0 / 5 / 0
Anxiety Disorders	240 / 506 / 0	149 / 463 / 87	101 / 506 / 139	0 / 5 / 0
Bipolar Disorder or Mania	10 / 736 / 0	7 / 689 / 3	2 / 736 / 8	0 / 5 / 0
Eating Disorders	31 / 715 / 0	17 / 668 / 14	12 / 715 / 19	0 / 5 / 0
Major Depressive Disorder	199 / 547 / 0	129 / 507 / 63	64 / 547 / 135	1 / 4 / 0
OCD	26 / 720 / 0	11 / 674 / 14	12 / 720 / 14	0 / 5 / 0
Psychosis	4 / 742 / 0	2 / 695 / 2	1 / 742 / 3	0 / 5 / 0
PTSD	56 / 690 / 0	33 / 644 / 22	15 / 690 / 41	0 / 5 / 0
Any Psychiatric Disorder	477 / 269 / 0	286 / 244 / 169	314 / 269 / 163	2 / 3 / 0
Cells show cases / controls / excluded cases. Controls were assessed and never positive. Pre-18-only cases are excluded from adult controls; 47 participants lacked an age-18+ evaluation. Diagnoses first observed after the relevant RNA-seq wave are excluded from acquisition-aligned controls.