SLDB

Speech/Language Disorders Database

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Gene / phenotype associations for CACNA1C

  • Click column headers to sort. Click to expand any row to see more details about the particular assertion of an association between variants of CACNA1C and a particular phenotypic variable.
  • Click the Pubmed IDs in the last column to link out to the primary research article. Click the links in the last column to download the full Genotype-Phenotype record as JSON or XML formatted text.
Entrez Id Symbol Location Disorder Brief Phenotype Reference Year Download
775 CACNA1C 12p13.3 Semantic verbal fluency and BOLD brain activation in a semantic verbal fluency task Krug et al 2010 JSON | XML

Basic Study Type:  - fMRI - Genotyped 1 SNP

Study Cohort: 
"The 63 subjects were male native German speakers of Western or Middle European descent (95.2% German) and were all right handed (as tested with the Edinburgh Laterality Scale (Oldfield, 1971)). This sample is a subsample of the subjects described in Krug et al. (2008b)."

Genotyping Methods: 
"The single nucleotide polymorphism rs1006737 was genotyped on an Applied Biosystems 7900HT Fast Real-Time PCR System, using a TaqMan 5' nuclease assay (TaqMan® SNP Genotyping Assay ID C_2584015_10; Applied Biosystems). Genotyping accuracy was assessed by running 15% of the sample in duplicates. Concordance was 100%. The obtained allele frequencies did not deviate from Hardy-Weinberg equilibrium (HWE; p=0.757)."

Analysis Methods: 
Independent samples t-test of the contrast "semantic verbal fluency" > "reading aloud"

Associated Markers:
rs1006737 


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