Table 2.
Genetic association between ISA subunits and disease/disorders.
| Subunit | Phenotype | Subject | Conclusion and analysis method | Reference |
|---|---|---|---|---|
| Kv4.2 | Temporal lobe epilepsy | Human-Japanese | Yes: electrophysiology | Singh et al. (2006) |
| KChIP | Ventricular tachycardia | Mouse | Yes: KChIP2 knockout | Kuo et al. (2001) |
| Pain | Mouse | Yes: KChIP3 knockout | Cheng et al. (2002) | |
| DPP6 | Amyotrophic lateral sclerosis | Human-multi-ethnic | Inconsistent: GWAS analysis SNP analysis CNV association | Cronin et al. (2008), van Es et al. (2008), Chio et al. (2009), Li et al. (2009), Blauw et al. (2010), Fogh et al. (2011) |
| Progressive multiple sclerosis | Human-Italian | Yes: SNP analysis | Brambilla et al. (2012) | |
| Tardive dyskinesia schizophrenia | Human-Japanese | Yes: GWAS analysis | Tanaka et al. (2013) | |
| Autism spectrum disorder | Human-multi-ethnic | Yes: ID mutations CNV association | Marshall et al. (2008), Noor et al. (2010) | |
| Microcephaly | Human-Chinese | Yes: CNV association | Liao et al. (2013) | |
| DPP10 | Asthma | Human-multi-ethnic | Yes: SNP association GWAS analysis Positional cloning | Allen et al. (2003), Zhou et al. (2009), Wu et al. (2010), Torgerson et al. (2012) |
| Autism spectrum disorder | Human-mixed | Yes: CNV analysis | Girirajan et al. (2013) | |
| Bipolar disorder schizophrenia | Human-Norwegian | Yes: GWAS analysis | Djurovic et al. (2010) |
GWAS, genome-wide association studies; CNV, copy-number variants; SNP, single-nucleotide polymorphism.