Table 1 Related phenotype definitions in ALSPAC and other genome-wide association study data
From: An exploration of the genetic epidemiology of non-suicidal self-harm and suicide attempt
Phenotype | GWAS details (for calculating PRS) | ALSPAC details (derivation of phenotypes) | |||||
|---|---|---|---|---|---|---|---|
Author, year | Total n | N cases | N controls | Original definition | Definition | Prevalence/mean (SD) | |
Depression | Howard (2019) [28] | 807,553 | 246,363 | 561,190 | Major depression- diagnostic interview/medical records/self-reported diagnosis or treatment for clinical depression | SMFQ > = 11, DAWBA depression at 7, 13 or 15, 17 years, self-report of ever being diagnosed with depression at 22 | 30% |
Schizophrenia | Pardinas (2018) [4] | 105,318 | 40,675 | 64,643 | cases diagnosed | Self-reported “ever diagnosed with schizophrenia” asked at age 22 | N = < 5 |
ADHD | Demontis (2019) [3] | 40,366 | 20,183 | 20,183 | cases diagnosed | DAWBA diagnosis at 7, 10, 13 or 15 | 3.31% |
Autism Spectrum Disorders (ASC) | Grove (2017) [5] | 46,351 | 18,382 | 27,969 | registry-based cases | Mother report of Autism Spectrum Disorder diagnosis at age 7, in 2.5th percentile on autism traits at 9 years old, report of additional education or work support for autism or Asperger’s | 2.46% |
Suicide attempt | Erlangsen (2018) [9] | 50,264 | 6024 | 44,240 | Clinically-registered suicide attempts in psychiatric cases | suicide attempt ever by age 26- derived as for suicide attempt above plus self-reported “attempted suicide in past 12 months” at age 26 in Life Events questionnaire | 10.31% (an additional 131 individuals over the age 24 variable) |
Anxiety | Otowa (2016) [29] | 21,761 | 7016 | 14,745 | Standardised assessment instruments were used to generate DSM-based Anxiety disorder diagnoses, with some exceptions | Any anxiety disorder by DAWBA, age 7, 10, 13, 15 17, 24. Age 21 GAD7 > =10 | 14.30% |
Problematic cannabis use | Demontis (2019) [30] | 51,372 | 2387 | 48,985 | Clinical records of ICD-10 codes for cannabis dependence | 4+ score on CAST age 17 and 21 | 1.70% |
Alcohol consumption | Clarke (2017) [31] | 112,117 | Self-reported average intake of alcohol consumption in units per week. | Average number of units per week based on frequency and number of drinks self-reported age 22 and 24 | mean 2.83, SD 3.19 | ||
Openness | Lo (2016) [32] | 76,551 | Big-5, NEO Five-factor inventory and other validated personality measures | Big-5 questionnaire age 13 | mean 35.8, SD 5.65 | ||
Conscientiousness | Lo (2016) [32] | 59,225 | Big-5, NEO Five-factor inventory and other validated personality measures | Big-5 questionnaire age 13 | mean 31.9, SD 5.82 | ||
Extraversion | Lo (2016) meta-analysed with GPC-1 (as GPC-2 contains ALSPAC) [32] | 76,600 | Big-5, NEO Five-factor inventory and other validated personality measures | Big-5 questionnaire age 13 | mean 35.3, SD 6.87 | ||
Agreeableness | Lo (2016) [32] | 76,551 | Big-5, NEO Five-factor inventory and other validated personality measures | Big-5 questionnaire age 13 | mean 37.9, SD 5.19 | ||
Neuroticism | Nagel (2018) [33] | 508,690 | Big-5, NEO Five-factor inventory and other validated personality measures | Big-5 questionnaire age 13 | mean 28.4, SD 6.58 | ||
Anorexia | Watson et al. (2019) [34] | 72,517 | 16,992 | 55,525 | Case definitions established a lifetime diagnosis of anorexia nervosa via hospital or register records, structured clinical interviews, or online questionnaires based on standardised criteria. In the UK Biobank, cases self-reported a diagnosis of anorexia nervosa | age 14, 16, 18, 24 range of questions regarding BMI, fasting, excessive exercise as in [35] | 0.87% |
IQ | Savage (2018) [36] | 269,867 | Different measures of intelligence were assessed in each cohort but were all operationalized to index a common latent g factor underlying multiple dimensions of cognitive functioning | WISC at age 8 and WASI at age 15 | mean 96.31, SD 14.45 | ||
Educational attainment | Davies (2016) [37] | 111,114 | Binary education variable indexing whether or not each participant had self-reported attaining a college or university-level degree. | Binary- whether report graduating from University between age 21 and 24 | 47% | ||
Household income | Hill (2016) [38] | 112,151 | Self-reported using a 5 point scale corresponding to the total household income before tax, 1 being less than £18,000, 2 being £18,000 - £29,999, 3 being £30,000 - £51,999, 4 being £52,000 – £100,000, and 5 being greater than £100,000 | Average take-home income at age 22 and/or 23, split into 5 bands | mean 2.91, SD 1.00 | ||