Table 1 Summary of nominally significant burden results

From: 708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits

Case–control

Trait

SNP subset

Test

Average excess of variants in cases

Optimised MAF threshold (N. SNP)

P-value

 

rMDD

RegPot

BURDEN

1.39

0.044

 

rMDD

PhastCon

VTTEST

1.20

0.0018 (31)

0.022

Quantitative traits

Trait

SNP subset

Test

Effect size (beta)

Optimised MAF threshold (N. SNP)

P-value

 

Symptoms of depressiona

TFBS

BURDEN

0.062

0.032

 

Moray House Test at age 70b

PhastCon

VTTEST

−0.074

0.0013 (21)

0.030

 

Moray House Test at age 70 adjusted for the Moray House Test score at age 11b

CpG

VTTEST

−0.064

0.00060 (2)

0.047

 

Moray House Test at age 11b

Coding

VTTEST

−0.101

0.00070 (12)

0.028

 

Moray House Test at age 11b

CpG

VTTEST

−0.097

0.31(3)

0.040

  1. Abbreviations: MAF, minor allele frequency; rMDD, recurrent major depressive disorder; SNPs, single-nucleotide polymorphisms.
  2. See main text for trait descriptions and Supplementary Table S8 for results on all diagnoses and traits. Quantitative trait analysis was one-tailed under the hypothesis that an increased burden of minor alleles would reduce scores for cognitive traits and increase scores for anxiety, depression and neuroticism.
  3. References for all quantitative traits are available in the open-access Lothian Birth Cohort protocol paper (Deary et al.60). Coding: SNPs in protein-coding regions of exons including both synonymous and non-synonymous SNPs. PCon, SNPs within regions of conservation in placental mammals (PhastCon, UCSC). RegPot: SNPs with putative regulatory potential (UCSC, 7 x regulatory potential). CpG: SNPs in CpG islands commonly associated with promoter regions.
  4. aTested using the Hospital Anxiety Depression Scales.
  5. bThe Moray House Test is the general cognitive test—mostly a verbal reasoning, IQ-type test—that was used in the Scottish Mental Survey 1947.