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| Status |
Public on Oct 07, 2022 |
| Title |
KCNJ6 variants associated with alcohol use disorder (AUD) in human induced neurons |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
Noncoding SNP variants in KCNJ6 have been linked with increased risk of alcohol use disorder (AUD) and the endophenotype EEG frontal theta event related oscillation (ERO) power. We prepared iPSC from subjects with contrasting diagnosis of AUD and KCNJ6 variants (AF, affected) or unaffected with reference KCNJ6 (UN). Induced neurons cultures were prepared from each iPSC line and harvested for RNAseq analysis. In these bulk RNAseq analyses, we do not identify meaningful differences by KCNJ6 haplotype, we we can validate expression of the long (18kb) 3'UTR from the KCNJ6 gene, and identify several additional SNPs linked with the original three. Additional studies used single cell RNAseq to isolate differentiated neurons from iN cultures and analysis of these samples found differences in neuron process formation and synaptic function, which were validated with morphometrics, immunocytochemistry, and electrophysiology.
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| Overall design |
Unbiased RNA sequencing was performed on iPSC-derived human induced neurons (iN) from two groups: AF having a variant KCNJ6 haplotype associated with alcohol use disorder (AUD) and diagnosed with AUD, and UN having reference allele KCNJ6 haplotype and diagnosed with no AUD.
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| Contributor(s) |
Popova DR, Swerdel MR, Zalamea P, Hart RP |
| Citation(s) |
36207584 |
| NIH grant(s) |
| Grant ID |
Grant title |
Affiliation |
Name |
| U10 AA008401 |
Collaborative Study on the Genetics of Alcoholism (COGA) |
SUNY DOWNSTATE MEDICAL CENTER |
BERNICE PORJESZ |
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| Submission date |
Feb 10, 2022 |
| Last update date |
Oct 10, 2022 |
| Contact name |
Ronald P. Hart |
| E-mail(s) |
rhart@rutgers.edu
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| Phone |
848-445-1783
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| Organization name |
Rutgers University
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| Department |
Cell Biology & Neuroscience
|
| Street address |
604 Allison Rd Rm B430
|
| City |
Piscataway |
| State/province |
NJ |
| ZIP/Postal code |
08854 |
| Country |
USA |
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| Platforms (1) |
| GPL18573 |
Illumina NextSeq 500 (Homo sapiens) |
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| Samples (7)
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| Relations |
| BioProject |
PRJNA805190 |
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