Functional Characterization of Schizophrenia-Associated Variation in CACNA1C

@inproceedings{Eckart2016FunctionalCO,
  title={Functional Characterization of Schizophrenia-Associated Variation in CACNA1C},
  author={Nicole Eckart and Qifeng Song and Rebecca Yang and Ruihua Wang and H. A. Zhu and Andrew S. McCallion and Dimitrios Avramopoulos},
  booktitle={PloS one},
  year={2016}
}
Calcium channel subunits, including CACNA1C, have been associated with multiple psychiatric disorders. Specifically, genome wide association studies (GWAS) have repeatedly identified the single nucleotide polymorphism (SNP) rs1006737 in intron 3 of CACNA1C to be strongly associated with schizophrenia and bipolar disorder. Here, we show that rs1006737 marks a quantitative trait locus for CACNA1C transcript levels. We test 16 SNPs in high linkage disequilibrium with rs1007637 and find one… CONTINUE READING