No Evidence for GADL1 Variation as a Bipolar Disorder Susceptibility Factor in a Caucasian Lithium-Responsive Cohort
Lithium Response Status of Family | Chromosome | Position | Reference Allele | Mutant Allele | Gene | Variant Type | Total Wild-Type | Total Affected With Variant | Total Controls With Variant | Family Affected Wild-Type | Family Affected With Variant | Single-Nucleotide Polymorphism Database Identification | 1,000 Genomes | Exome Variant Server |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Familial whole genome sequencingb | ||||||||||||||
Responder | 3 | 30769819 | C | T | GADL1 | Missense | 56 | 1 | 1 | 0 | 1 | rs62636628 | 0.01 | 0.017 |
Responder | 3 | 30875361 | A | G | GADL1 | Missense | 57 | 1 | 0 | 0 | 1 | n.a. | n.a. | n.a. |
Validation: familial whole exome sequencingc | ||||||||||||||
Eight families (responders, N=4; nonresponders, N=4) | 3 | 30769819 | C | T | GADL1 | Missense | 862 | 17 | 33 | 19 | 11 (responders, N=5; nonresponders, N=6) | rs62636628 | 0.01 | 0.017 |
Responder | 3 | 30769819 | C | T | GADL1 | Missense | 785 | 1 | 10 | 6 | 1 | n.a. | 0.0018 | 0.005 |
Responder | 3 | 30936097 | C | G | GADL1 | Missense | 103 | 1 | 0 | 3 | 1 | n.a. | n.a. | n.a. |
Validation: familial whole exome sequencingd | ||||||||||||||
3 | 30885653 | GC | G | GADL1 | Intronic | 456 | 1 | 32 | n.a. | n.a. | n.a. | 0.06 | 0.003 |
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