TABLE 3.
Overlap With Copy Number Variants (CNVs) Identified in ADHD and Loci Implicated in Autism and Schizophreniaa
All CNVs >100 kb |
|||||
---|---|---|---|---|---|
Gene/Locus and Measure | Chromosome | Start (bp) | End (bp) | ADHD Subjects | Comparison Subjects |
Implicated in autism | |||||
NRXN1 | 2 | 50000991 | 51113178 | 0 | 0 |
SLC9A9 | 3 | 144466753 | 145049979 | 0 | 0 |
c3orf58 | 3 | 145173602 | 145193895 | 0 | 0 |
NIPBL | 5 | 36912617 | 37101678 | 0 | 0 |
NSD1 | 5 | 176492685 | 176659820 | 0 | 0 |
AHI1 | 6 | 135646816 | 135860576 | 0 | 0 |
CNTNAP2 | 7 | 145444385 | 147749019 | 0 | 0 |
CHD7 | 8 | 61753892 | 61942021 | 0 | 0 |
VPS13B | 8 | 100094669 | 100958984 | 0 | 0 |
TSC1 | 9 | 134756556 | 134809841 | 0 | 0 |
PTEN | 10 | 89613174 | 89718512 | 0 | 0 |
DHCR7 | 11 | 70823104 | 70837125 | 0 | 0 |
CACNA1C | 12 | 2032676 | 2677376 | 0 | 0 |
PTPN11 | 12 | 111340918 | 111432100 | 0 | 0 |
UBE3A | 15 | 23133488 | 23235221 | 0 | 0 |
TSC2 | 16 | 2037990 | 2078714 | 0 | 0 |
CREBBP | 16 | 3715056 | 3870122 | 0 | 0 |
RAI1 | 17 | 17525511 | 17655490 | 0 | 0 |
NF1 | 17 | 26446120 | 26728821 | 0 | 0 |
DMPK | 19 | 50964815 | 50977655 | 0 | 0 |
ADSL | 22 | 39072449 | 39092521 | 0 | 0 |
SHANK3 | 22 | 49459935 | 49518507 | 0 | 0 |
1p36 | 1 | 1 | 5308621 | 2 | 0 |
1q21.1 | 1 | 144979000 | 146204000 | 1 | 3 |
2q37 | 2 | 239619630 | 242951149 | 0 | 1 |
4p16 | 4 | 1 | 2043468 | 0 | 0 |
7q11.23 | 7 | 71970679 | 74254837 | 0 | 0 |
15q11.2–q13.1 | 15 | 21309483 | 26230781 | 2 | 1 |
15q13.3 | 15 | 28557287 | 30488774 | 9 | 7 |
15q24 | 15 | 72164227 | 73949332 | 0 | 0 |
16p11.2 | 16 | 29550000 | 30200000 | 1 | 4 |
22q11 | 22 | 17015754 | 20000000 | 3 | 4 |
CNVs overlapping | 18 | 20 | |||
CNVs not overlapping | 442 | 1,082 | |||
p | 0.009 | ||||
Frequency of CNV hits | 0.039 | 0.018 | |||
Ratio (case/control) | 2.156 | ||||
Implicated in schizoprenia | |||||
CNTNAP2 | 7 | 145444385 | 147749019 | 0 | 0 |
NRXN1 | 2 | 50000991 | 51113178 | 0 | 0 |
1q21.1 | 1 | 144940000 | 146290000 | 1 | 3 |
15q11.2 | 15 | 20310000 | 20780000 | 8 | 13 |
15q13.3 | 15 | 28720000 | 30300000 | 9 | 7 |
16p13.11 | 16 | 14890000 | 16390000 | 3 | 9 |
16p11.2 | 16 | 29554844 | 30085308 | 1 | 4 |
22q11 | 22 | 17500000 | 20000000 | 3 | 4 |
CNVs overlapping | 25 | 40 | |||
CNVs not overlapping | 435 | 1,062 | |||
p | 0.03 | ||||
Frequency of CNV hits | 0.054 | 0.036 | |||
Ratio (case/control) | 1.497 |
a All p values calculated using logistic regression correcting for CNV size.