LRP1 burden analysis of ultra-rare variants in autism-spectrum disorder and schizophrenia*
| Group | Individuals | Pathogenic ultra-rare variants | p value |
|---|---|---|---|
| Controls | 7875 | 64 | — |
| Schizophrenia† | 6135 | 44 | 0.52 |
| Autism-spectrum disorder‡ | 1778 | 35 | 1.2 × E−05 |
↵* Total individuals used across different sequencing data sets and number of ultra-rare variants predicted to be pathogenic. The selection of variants includes missense, truncating variants and splice-site variants (full list of ultra-rare variants in Appendix 1, Table S11, available at jpn.ca).
↵† Whole-exon sequencing from the Sweden Schizophrenia Population-Based Case–Control data set (dbGAP accession: phs000473.v2.p2).
↵‡ ARRA Autism Sequencing Collaboration (dbGAP accession: phs000298.v3.p2).